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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IGSF10	285313	broad.mit.edu	37	3	151165454	151165454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:151165454C>T	ENST00000282466.3	-	4	2314	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	772					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTATTTTCTCGCTTGTCTGG	0.507000													17	30					0	0	0.004007	0	0
NLRP4	147945	broad.mit.edu	37	19	56369793	56369793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56369793G>A	ENST00000301295.6	+	3	1456	c.1034G>A	c.(1033-1035)tGg>tAg	p.W345*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.W345*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.W270*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	345	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTGCTGGATCCTGTGT	0.478000													19	28					0	0	0.001216	0	0
ACSM1	116285	broad.mit.edu	37	16	20702490	20702490	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:20702490G>A	ENST00000307493.4	-	1	88	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ACSM1_ENST00000520010.1_Silent_p.F7F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	7					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGAGGGTCCGGAACCTCATTA	0.532000													33	74					0	0	0.004289	0	0
UGT2B11	10720	broad.mit.edu	37	4	70074168	70074168	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:70074168T>G	ENST00000446444.1	-	3	911	c.903A>C	c.(901-903)gaA>gaC	p.E301D	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	301					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CAACACCATTTTCTCCAGAGC	0.423000													30	72					0	0	0.003755	0	0
GPR148	344561	broad.mit.edu	37	2	131487345	131487345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:131487345G>A	ENST00000309926.4	+	1	703	c.621G>A	c.(619-621)atG>atA	p.M207I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CACCAAGCATGGGCACCCAGC	0.552000													24	58					0	0	0.003954	0	0
SCAF1	58506	broad.mit.edu	37	19	50150026	50150026	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50150026C>T	ENST00000360565.3	+	6	541	c.417C>T	c.(415-417)ccC>ccT	p.P139P		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	139					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		ACAGAGATCCCATCCCTCTGC	0.667000													8	6					0	0	0.006214	0	0
OR1F1	4992	broad.mit.edu	37	16	3254873	3254873	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:3254873C>T	ENST00000304646.2	+	1	627	c.627C>T	c.(625-627)acC>acT	p.T209T	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TCATGATCACCCCATTTCTTT	0.502000													25	42					0	0	0.004656	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097914	220097914	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:220097914G>A	ENST00000323348.5	+	6	845		c.e6+1		ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATTTCAAGGGTGAGAGGGTG	0.547000													36	71					0	0	0.003755	0	0
BCL2A1	597	broad.mit.edu	37	15	80263402	80263402	+	Silent	SNP	G	G	A	rs147300718		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:80263402G>A	ENST00000267953.3	-	1	386	c.60C>T	c.(58-60)gtC>gtT	p.V20V	BCL2A1_ENST00000335661.6_Silent_p.V20V	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	20					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GTATCTGTAGGACGCACTGCA	0.463000													7	38					0	0	0.001368	0	0
TMEM168	64418	broad.mit.edu	37	7	112423923	112423923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:112423923G>A	ENST00000312814.5	-	2	1518	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	TMEM168_ENST00000454074.1_Missense_Mutation_p.H320Y	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	320						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATTTGGTATGGAATCCCCAA	0.348000													42	93					0	0	0.007835	0	0
PIBF1	10464	broad.mit.edu	37	13	73409470	73409470	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:73409470G>C	ENST00000326291.6	+	9	1525	c.1187G>C	c.(1186-1188)cGa>cCa	p.R396P		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	396						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GATCAACTTCGAAATGCCTCT	0.303000													28	49					0	0	0.006320	0	0
TMC4	147798	broad.mit.edu	37	19	54675684	54675684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:54675684G>A	ENST00000376591.4	-	2	397	c.266C>T	c.(265-267)cCt>cTt	p.P89L	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.P83L	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	89						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCCCGGGAAGGGTGAGGGTC	0.677000													15	42					0	0	0.006122	0	0
QPRT	23475	broad.mit.edu	37	16	29708519	29708519	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:29708519G>A	ENST00000395384.4	+	4	842		c.e4-1		QPRT_ENST00000562473.1_Splice_Site|QPRT_ENST00000219771.7_Splice_Site	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase						protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GTGTCCCGCAGGAGCTGCACC	0.642000													5	7					0	0	0.001168	0	0
VASP	7408	broad.mit.edu	37	19	46027396	46027396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:46027396C>T	ENST00000245932.6	+	10	1308	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	318	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CACAACCTTGCCAAGGTAGGC	0.577000											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					0	0	0.001368	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241517032	241517032	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:241517032C>A	ENST00000270357.3	+	11	1801	c.1208C>A	c.(1207-1209)aCc>aAc	p.T403N	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	403					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CGCATGTACACCATCCCGCTG	0.687000													7	23					1.12685e-05	1.46475e-05	0.004482	1	0
VWF	7450	broad.mit.edu	37	12	6125316	6125316	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:6125316G>A	ENST00000261405.5	-	31	5648	c.5394C>T	c.(5392-5394)atC>atT	p.I1798I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1798	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCGTGACCAGGATGACCACCG	0.552000													13	15					0	0	0.001855	0	0
PTPRD	5789	broad.mit.edu	37	9	8375969	8375969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:8375969G>A	ENST00000381196.4	-	36	5171	c.4628C>T	c.(4627-4629)cCt>cTt	p.P1543L	PTPRD_ENST00000356435.5_Missense_Mutation_p.P1543L|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1530L|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1521L|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1543L|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1133L|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1136L|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1136L|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1136L|PTPRD_ENST00000397611.3_Missense_Mutation_p.P1133L|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1137L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1543	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCATCGGGAGGGTTACAGGT	0.468000										TSP Lung(15;0.13)			22	18					0	0	0.002780	0	0
TNR	7143	broad.mit.edu	37	1	175375790	175375790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175375790G>A	ENST00000367674.1	-	3	769	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	TNR_ENST00000263525.2_Missense_Mutation_p.L21F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	21					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCCCAGAAGGATCAGGTTG	0.552000													26	60					0	0	0.003954	0	0
GRIA3	2892	broad.mit.edu	37	X	122598946	122598946	+	Silent	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:122598946T>A	ENST00000264357.5	+	13	2599	c.2307T>A	c.(2305-2307)ccT>ccA	p.P769P	GRIA3_ENST00000371256.5_Silent_p.P769P|GRIA3_ENST00000371251.1_Silent_p.P769P|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000542149.1_Silent_p.P769P	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	769					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGGCAACCCCTAAAGGCTCAG	0.403000													31	9					0	0	0.003271	0	0
IGSF1	3547	broad.mit.edu	37	X	130415851	130415851	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:130415851G>A	ENST00000370904.1	-	14	2197	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	IGSF1_ENST00000361420.3_Silent_p.T438T|IGSF1_ENST00000370903.3_Silent_p.T438T|IGSF1_ENST00000370910.1_Silent_p.T429T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	438	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCACTGAAGGGTGATGGCCT	0.468000													7	3					0	0	0.001984	0	0
TMEM246	84302	broad.mit.edu	37	9	104238586	104238586	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:104238586C>T	ENST00000374851.1	-	4	1936	c.789G>A	c.(787-789)ctG>ctA	p.L263L	TMEM246_ENST00000374848.3_Silent_p.L263L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Silent_p.L263L|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	263						integral to membrane											CAACCCATTCCAGGATCCGCA	0.537000													29	37					0	0	0.007291	0	0
GAD1	2571	broad.mit.edu	37	2	171678638	171678638	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:171678638A>G	ENST00000358196.3	+	3	674	c.124A>G	c.(124-126)Aaa>Gaa	p.K42E	GAD1_ENST00000344257.5_Missense_Mutation_p.K42E|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.K42E	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	42					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGCACCAGAAAACTGGGGCT	0.647000													6	7					0	0	0.003080	0	0
C15orf39	56905	broad.mit.edu	37	15	75500451	75500451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:75500451C>T	ENST00000360639.2	+	2	2382	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	C15orf39_ENST00000567617.1_Missense_Mutation_p.P688S|C15orf39_ENST00000394987.4_Missense_Mutation_p.P688S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	688										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACATCTGGGCCCATTGGACT	0.667000													6	24					0	0	0.003080	0	0
LST3	0	broad.mit.edu	37	12	21205109	21205109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:21205109G>A	ENST00000381541.3	+	10	1476	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E471K|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E424K|LST3_ENST00000540229.1_Intron																							AAGTCAATGGGAACCCGTCTG	0.373000													53	32					0	0	0.003610	0	0
PSKH2	85481	broad.mit.edu	37	8	87076519	87076519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:87076519G>A	ENST00000276616.2	-	2	601	c.527C>T	c.(526-528)gCg>gTg	p.A176V	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	176	Protein kinase.		A -> S (in dbSNP:rs6998760).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TATCTGCAGCGCATGCAAATA	0.443000													21	34					0	0	0.002299	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974680	21974680	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:21974680G>A	ENST00000304494.5	-	1	417	c.147C>T	c.(145-147)atC>atT	p.I49I	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.I49I|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Silent_p.I49I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Silent_p.I49I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	49			I -> S (in a biliary tract tumor).|I -> T.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(1)|p.0(1)|p.V28_V51del(1)|p.I49M(1)|p.I49I(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TACCCACCTGGATCGGCCTCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			90	80					0	0	0.003610	0	0
ZNF600	162966	broad.mit.edu	37	19	53270581	53270581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53270581G>A	ENST00000338230.3	-	3	695	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGAATTCGGGGAATTATTCCC	0.393000													36	77					0	0	0.003271	0	0
PCDH10	57575	broad.mit.edu	37	4	134071348	134071348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:134071348C>T	ENST00000264360.4	+	1	879	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	18					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGAGTCTTTTCCCAGCTTCAC	0.498000													34	61					0	0	0.004878	0	0
CHD2	1106	broad.mit.edu	37	15	93543789	93543789	+	Silent	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:93543789G>T	ENST00000394196.4	+	32	5124	c.4056G>T	c.(4054-4056)gtG>gtT	p.V1352V	CHD2_ENST00000557381.1_Silent_p.V1352V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1352					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAACAAAGTGCCCAGGCTGA	0.423000													18	28					2.48551e-13	3.25734e-13	0.004990	1	0
HDAC5	10014	broad.mit.edu	37	17	42170121	42170121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:42170121G>A	ENST00000225983.6	-	7	1021	c.698C>T	c.(697-699)cCt>cTt	p.P233L	HDAC5_ENST00000393622.2_Missense_Mutation_p.P232L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P232L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P232L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	232					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647000													12	26					0	0	0.000978	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605776	58605776	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:58605776G>A	ENST00000287275.1	-	3	534	c.144C>T	c.(142-144)gcC>gcT	p.A48A	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.A48A	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	48						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AATCTGGCCAGGCATCTACCA	0.458000													14	35					0	0	0.002450	0	0
MACF1	23499	broad.mit.edu	37	1	39945528	39945528	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:39945528C>T	ENST00000564288.1	+	98	22794	c.22017C>T	c.(22015-22017)tcC>tcT	p.S7339S	MACF1_ENST00000372915.3_Silent_p.S7209S|MACF1_ENST00000539005.1_Silent_p.S5121S|MACF1_ENST00000317713.7_Silent_p.S5251S|MACF1_ENST00000545844.1_Silent_p.S5251S|MACF1_ENST00000361689.2_Silent_p.S5251S|MACF1_ENST00000567887.1_Silent_p.S7376S|MACF1_ENST00000289893.4_Silent_p.S5759S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7209	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGCATCCCAGGGAATGA	0.493000													13	26					0	0	0.002450	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994681	140994681	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:140994681T>G	ENST00000285879.4	+	4	1777	c.1491T>G	c.(1489-1491)agT>agG	p.S497R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	497							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCAGAGTTCCCCTGAGT	0.498000										HNSCC(15;0.026)			58	27					0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844632	147844632	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:147844632G>A	ENST00000361727.3	+	17	3120	c.2604G>A	c.(2602-2604)gaG>gaA	p.E868E	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	868	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.E868D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCAGTAGAGATTGTAGTGA	0.512000										HNSCC(39;0.1)			51	82					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28538093	28538093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:28538093G>A	ENST00000261609.7	-	4	371	c.263C>T	c.(262-264)cCt>cTt	p.P88L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	88					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)		TATAGGTGCAGGAGTTTCTTC	0.383000													14	31					0	0	0.002450	0	0
ZNF14	7561	broad.mit.edu	37	19	19822381	19822381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:19822381G>A	ENST00000344099.3	-	4	1847	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTTACTGGAAGAAATGAAGGC	0.418000													16	16					0	0	0.003163	0	0
SI	6476	broad.mit.edu	37	3	164786619	164786619	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:164786619C>T	ENST00000264382.3	-	5	436	c.373_splice	c.e5-1	p.G125_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	125	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|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)	GGCTTCAACTCCTTAAAGAAT	0.303000										HNSCC(35;0.089)			23	34					0	0	0.003330	0	0
AGMO	392636	broad.mit.edu	37	7	15470631	15470631	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:15470631C>T	ENST00000342526.3	-	4	681	c.513_splice	c.e4+1	p.W171_splice		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	171					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACAACTTACCCAGGAAGTATA	0.338000													10	29					0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9086891	9086891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9086891C>T	ENST00000397910.4	-	1	5127	c.4924G>A	c.(4924-4926)Gga>Aga	p.G1642R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1642	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						AGGGTGACTCCACTACTACTG	0.507000													27	68					0	0	0.004656	0	0
TAF1	6872	broad.mit.edu	37	X	70683687	70683687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70683687G>A	ENST00000449580.1	+	39	5563	c.5512G>A	c.(5512-5514)Gag>Aag	p.E1838K	TAF1_ENST00000373790.4_Missense_Mutation_p.E1804K|TAF1_ENST00000276072.3_Missense_Mutation_p.E1825K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1827K|TAF1_ENST00000461764.1_Intron			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1804	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGGAGCTATGAGGAGCCTGA	0.512000													13	1					0	0	0.002450	0	0
CFH	3075	broad.mit.edu	37	1	196716296	196716296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:196716296G>A	ENST00000367429.4	+	22	3789	c.3549G>A	c.(3547-3549)tgG>tgA	p.W1183*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1183	Sushi 20.		W -> C (in AHUS1).|W -> L (in AHUS1).|W -> R (in AHUS1).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CATTAAGGTGGACAGCCAAAC	0.348000													30	39					0	0	0.002836	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010011	27010011	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:27010011C>T	ENST00000314616.6	+	15	2062	c.1779C>T	c.(1777-1779)gcC>gcT	p.A593A	SUPT6H_ENST00000347486.4_Silent_p.A593A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	593					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACATGGTAGCCCTGCAGATTG	0.557000													7	13					0	0	0.001984	0	0
NEDD4L	23327	broad.mit.edu	37	18	56063468	56063468	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:56063468G>A	ENST00000456986.1	+	31	3132	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	NEDD4L_ENST00000400345.3_Silent_p.V965V|NEDD4L_ENST00000586263.1_Silent_p.V937V|NEDD4L_ENST00000435432.2_Silent_p.V824V|NEDD4L_ENST00000357895.5_Silent_p.V957V|NEDD4L_ENST00000589054.1_Silent_p.V96V|NEDD4L_ENST00000356462.6_Silent_p.V901V|NEDD4L_ENST00000431212.2_Silent_p.V844V|NEDD4L_ENST00000456173.2_Silent_p.V824V|NEDD4L_ENST00000256830.9_Silent_p.V861V|NEDD4L_ENST00000382850.4_Silent_p.V945V|NEDD4L_ENST00000256832.7_Silent_p.V825V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	965	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCATGGCCGTGGAAAATGCTC	0.438000													7	7					0	0	0.001984	0	0
BIRC7	79444	broad.mit.edu	37	20	61870828	61870828	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:61870828G>A	ENST00000217169.3	+	6	982	c.768G>A	c.(766-768)ctG>ctA	p.L256L	BIRC7_ENST00000342412.6_Silent_p.L238L|BIRC7_ENST00000395306.1_Silent_p.L151L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	256					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGGTGTGCCTGGACCGCGCCG	0.697000													15	34					0	0	0.004007	0	0
STAB1	23166	broad.mit.edu	37	3	52539146	52539146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:52539146C>T	ENST00000321725.6	+	13	1581	c.1505C>T	c.(1504-1506)cCt>cTt	p.P502L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	502					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGGACCCCTGGGGATCCC	0.622000													19	52					0	0	0.001882	0	0
PTPRT	11122	broad.mit.edu	37	20	40713343	40713343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:40713343C>T	ENST00000373198.3	-	30	4416	c.4181G>A	c.(4180-4182)gGa>gAa	p.G1394E	PTPRT_ENST00000373190.1_Missense_Mutation_p.G1371E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1375E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1382E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1362E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1372E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1381E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1372	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.G1394E(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACAGTACGTCCCTCCCTCCC	0.612000													6	10					0	0	0.003080	0	0
ETAA1	54465	broad.mit.edu	37	2	67630890	67630890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:67630890C>T	ENST00000272342.5	+	5	1206	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	359						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGTGTGACTTCCTGTACTAAG	0.353000													14	36					0	0	0.003163	0	0
CHN2	1124	broad.mit.edu	37	7	29519972	29519972	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:29519972G>A	ENST00000222792.6	+	7	1184	c.654_splice	c.e7+1	p.K218_splice	CHN2_ENST00000539406.1_Splice_Site_p.K293_splice|CHN2_ENST00000495789.2_Splice_Site_p.K231_splice|CHN2_ENST00000439711.2_Splice_Site_p.K82_splice|CHN2_ENST00000409041.4_Splice_Site_p.K82_splice|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Splice_Site_p.K82_splice|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000546235.1_Splice_Site_p.K203_splice|CHN2_ENST00000539389.1_Splice_Site_p.K74_splice	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ACAACTTTAAGGTAAGCAAGC	0.453000													15	32					0	0	0.004007	0	0
TMEM57	55219	broad.mit.edu	37	1	25812149	25812149	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:25812149C>T	ENST00000374343.4	+	8	1538	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	TMEM57_ENST00000399766.3_Silent_p.I226I|TMEM57_ENST00000399763.3_Silent_p.I95I	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	453						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAATATCAGCCAGTTGG	0.353000													21	50					0	0	0.001882	0	0
ZNF248	57209	broad.mit.edu	37	10	38121310	38121310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:38121310G>A	ENST00000395867.3	-	6	1523	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	ZNF248_ENST00000357328.4_Missense_Mutation_p.R325C|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTATATTCACGGAGAATCTTT	0.358000													20	38					0	0	0.001523	0	0
PTPN1	5770	broad.mit.edu	37	20	49195771	49195771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:49195771C>T	ENST00000371621.3	+	7	943	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	PTPN1_ENST00000541713.1_Missense_Mutation_p.R184W	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	257	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GAGGAAGTTTCGGATGGGGCT	0.512000													47	79					0	0	0.003610	0	0
AOAH	313	broad.mit.edu	37	7	36726344	36726344	+	Silent	SNP	C	C	T	rs145856572	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:36726344C>T	ENST00000431169.1	-	2	483	c.183G>A	c.(181-183)acG>acA	p.T61T	AOAH_ENST00000258749.5_Silent_p.T61T|AOAH_ENST00000535891.1_Intron	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	61	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGGCCTGGACCGTCGAGTTGT	0.512000													13	25					0	0	0.004007	0	0
OR5D18	219438	broad.mit.edu	37	11	55587751	55587751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55587751C>T	ENST00000333976.4	+	1	666	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCATCGTTCTCACATCTTA	0.483000													21	42					0	0	0.003330	0	0
CD36	948	broad.mit.edu	37	7	80276161	80276161	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:80276161G>A	ENST00000435819.1	+	6	789	c.105G>A	c.(103-105)caG>caA	p.Q35Q	CD36_ENST00000441109.2_3'UTR|CD36_ENST00000433696.2_Silent_p.Q35Q|CD36_ENST00000447544.2_Silent_p.Q35Q|CD36_ENST00000544133.1_Silent_p.Q35Q|CD36_ENST00000394788.3_Silent_p.Q35Q|CD36_ENST00000432207.1_Silent_p.Q35Q|CD36_ENST00000309881.7_Silent_p.Q35Q|CD36_ENST00000534394.1_Intron|CD36_ENST00000538969.1_Silent_p.Q35Q			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	35					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGCTTATCCAGAAGACAATTA	0.418000													15	46					0	0	0.003163	0	0
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:134188633C>G	ENST00000368610.3	+	10	1294	c.1294C>G	c.(1294-1296)Cga>Gga	p.R432G	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.R494G|LRRC27_ENST00000368612.1_Missense_Mutation_p.R432G|LRRC27_ENST00000368614.3_Missense_Mutation_p.R494G|LRRC27_ENST00000392638.2_3'UTR			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468000													10	25					0	0	0.000673	0	0
C19orf24	55009	broad.mit.edu	37	19	1278890	1278890	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1278890G>A	ENST00000469144.1	+	3	390	c.81G>A	c.(79-81)cgG>cgA	p.R27R	C19orf24_ENST00000409293.4_3'UTR			Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24	63						cytoplasm|extracellular region part|integral to membrane							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|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)		GCTGGCCCCGGGGCTGGTCTC	0.682000													18	13					0	0	0.007413	0	0
RNF213	57674	broad.mit.edu	37	17	78321753	78321753	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:78321753C>T	ENST00000582970.1	+	29	9761	c.9618C>T	c.(9616-9618)ttC>ttT	p.F3206F	RNF213_ENST00000336301.6_Silent_p.F1279F|RNF213_ENST00000508628.2_Silent_p.F3255F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CACATCATTTCCAGAAGAGGC	0.547000													12	17					0	0	0.000978	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980933	67980933	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67980933G>A	ENST00000422611.2	-	16	2193	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	SLC12A4_ENST00000576616.1_Silent_p.S716S|SLC12A4_ENST00000541864.2_Silent_p.S685S|SLC12A4_ENST00000316341.3_Silent_p.S716S|SLC12A4_ENST00000537830.2_Silent_p.S710S|SLC12A4_ENST00000572037.1_Silent_p.S668S|SLC12A4_ENST00000338335.3_Silent_p.S716S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	716					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTTGAGCTGGGAGGCGAAGG	0.652000													7	13					0	0	0.003080	0	0
KLHL3	26249	broad.mit.edu	37	5	137028034	137028034	+	Missense_Mutation	SNP	G	G	A	rs139384947		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:137028034G>A	ENST00000508657.1	-	5	1084	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	KLHL3_ENST00000309755.4_Missense_Mutation_p.R156C|KLHL3_ENST00000506491.1_Missense_Mutation_p.R74C|KLHL3_ENST00000394937.3_Missense_Mutation_p.R156C|KLHL3_ENST00000541417.1_Silent_p.S37S	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	156						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCAAATGCACGGATGCCCAGG	0.587000													9	5					0	0	0.004482	0	0
KCNH4	23415	broad.mit.edu	37	17	40315253	40315253	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:40315253G>A	ENST00000264661.3	-	14	2909	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	KCNH4_ENST00000607371.1_Silent_p.P859P	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	859					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACCTGTAGGGGGCGCCTGGG	0.597000													25	17					0	0	0.006320	0	0
PZP	5858	broad.mit.edu	37	12	9356430	9356430	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:9356430C>T	ENST00000261336.2	-	2	229	c.201G>A	c.(199-201)agG>agA	p.R67R		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCTGTTTTCCCTGCCAGACT	0.562000													25	13					0	0	0.005443	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329680	88329680	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:88329680C>T	ENST00000325089.6	+	2	2256	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	SLITRK5_ENST00000400028.3_Silent_p.F438F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	679						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTCCGTCTTCGTGGCCGCCG	0.617000													14	14					0	0	0.001855	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665924	8665924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8665924C>T	ENST00000270328.4	-	5	964	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R233Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	233					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCTGACCGATCGCTTCAGGCC	0.647000													21	37					0	0	0.001882	0	0
EPS8L3	79574	broad.mit.edu	37	1	110299788	110299788	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:110299788C>T	ENST00000369805.3	-	12	1202		c.e12-1		EPS8L3_ENST00000361965.4_Splice_Site|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Splice_Site	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3							cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGGCCAGGATCTAGGGGAGAG	0.592000													5	10					0	0	0.000602	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391751	75391751	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75391751C>T	ENST00000359322.4	-	6	1201	c.837G>A	c.(835-837)ggG>ggA	p.G279G		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	279					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTACAGGCTCCCCAGAGCTCA	0.532000													9	23					0	0	0.006214	0	0
CLCN1	1180	broad.mit.edu	37	7	143029876	143029876	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143029876G>A	ENST00000343257.2	+	12	1398	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	437			A -> T (in dbSNP:rs41276054).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGAAACACGCGGGTGATCCTG	0.527000													49	65					0	0	0.003610	0	0
IGFN1	91156	broad.mit.edu	37	1	201196201	201196201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201196201G>A	ENST00000335211.4	+	23	11108	c.10978G>A	c.(10978-10980)Gtg>Atg	p.V3660M	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAACCCCGCGGTGTACAGCAC	0.657000													7	13					0	0	0.004482	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189852	58189852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:58189852G>A	ENST00000318203.5	+	5	1578	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	294					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAATGAGGGAAATTCCACA	0.473000													17	40					0	0	0.004990	0	0
RYR2	6262	broad.mit.edu	37	1	237947468	237947468	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237947468C>T	ENST00000366574.2	+	90	12773	c.12456C>T	c.(12454-12456)atC>atT	p.I4152I	RYR2_ENST00000542537.1_Silent_p.I4136I|RYR2_ENST00000360064.6_Silent_p.I4158I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4152					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)			ATTTTGAAATCAGTGAGTCCA	0.502000													26	39					0	0	0.002445	0	0
MMP11	4320	broad.mit.edu	37	22	24123412	24123412	+	Silent	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:24123412C>A	ENST00000215743.3	+	6	943	c.891C>A	c.(889-891)tcC>tcA	p.S297S		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	297					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GTGAGGCCTCCTTTGACGCGG	0.637000													37	48					4.01765e-15	5.27248e-15	0.002222	1	0
R3HDML	140902	broad.mit.edu	37	20	42969931	42969931	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:42969931G>A	ENST00000217043.2	+	2	529	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	119						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ACGTGGGCCAGAACCTCTCCA	0.572000													13	32					0	0	0.006122	0	0
IL15RA	3601	broad.mit.edu	37	10	6005800	6005800	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:6005800G>A	ENST00000525219.2	-	3	474	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL15RA_ENST00000397255.3_Silent_p.D96D|IL15RA_ENST00000530685.1_Intron|IL15RA_ENST00000397251.3_Silent_p.D31D|IL15RA_ENST00000379977.3_Silent_p.D96D|IL15RA_ENST00000397248.2_Silent_p.D60D|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000528354.1_Intron|IL15RA_ENST00000397250.2_Intron	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	96	Sushi.				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGGCAGGGTCTCCTAGAG	0.537000													11	8					0	0	0.000978	0	0
ZNF221	7638	broad.mit.edu	37	19	44471349	44471349	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44471349G>A	ENST00000251269.5	+	6	2023	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	ZNF221_ENST00000592350.1_Silent_p.K565K|ZNF221_ENST00000587682.1_Silent_p.K565K	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATAATTGTAAGGAATGTGGAA	0.453000													19	36					0	0	0.002299	0	0
EFHB	151651	broad.mit.edu	37	3	19975238	19975238	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:19975238G>A	ENST00000295824.9	-	1	434	c.273C>T	c.(271-273)gtC>gtT	p.V91V	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	91					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGACACTGTCGACTCCTAAAC	0.443000													42	30					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179481736	179481736	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179481736T>C	ENST00000589042.1	-	256	48104	c.47880A>G	c.(47878-47880)gaA>gaG	p.E15960E	TTN_ENST00000342175.6_Silent_p.E7087E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.E13392E|TTN_ENST00000359218.5_Silent_p.E7020E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E6895E|TTN_ENST00000591111.1_Silent_p.E14319E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14319	Fibronectin type-III 16.						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)			CCATTGTTGGTTCAACTACAA	0.393000													37	85					0	0	0.006230	0	0
FER1L6	654463	broad.mit.edu	37	8	125047600	125047600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:125047600G>A	ENST00000522917.1	+	19	2575	c.2369G>A	c.(2368-2370)aGt>aAt	p.S790N	FER1L6_ENST00000399018.1_Missense_Mutation_p.S790N|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	790						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCATGCCAGTGCCATTTTG	0.537000													23	72					0	0	0.004656	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572209	30572209	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:30572209C>T	ENST00000376511.2	-	13	1734	c.1182G>A	c.(1180-1182)agG>agA	p.R394R		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	394	Essential for PPP1CA inhibition (By similarity).|Necessary for interaction with PPP1CA (By similarity).|Necessary for interaction with PPP1CC.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTTTCCTCTTCCTGCCTTTCC	0.483000													56	22					0	0	0.003610	0	0
DAOA	267012	broad.mit.edu	37	13	106124916	106124916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:106124916G>A	ENST00000375936.3	+	3	209	c.163G>A	c.(163-165)Gta>Ata	p.V55I	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	55						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAGAGAGACGGTAACAAGGAA	0.388000													8	10					0	0	0.004482	0	0
SORBS2	8470	broad.mit.edu	37	4	186544450	186544450	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:186544450C>T	ENST00000431808.1	-	14	2684	c.2121G>A	c.(2119-2121)cgG>cgA	p.R707R	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.R807R|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Silent_p.R707R|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.R611R|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	707						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTTTTTTCCTCCGGAAAGGCA	0.468000													46	90					0	0	0.003610	0	0
S1PR3	1903	broad.mit.edu	37	9	91616748	91616748	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:91616748C>T	ENST00000375846.3	+	1	5328	c.633C>T	c.(631-633)atC>atT	p.I211I	S1PR3_ENST00000358157.2_Silent_p.I211I			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	211					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGGTGACCATCGTGATCCTCT	0.572000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	56					0	0	0.007835	0	0
MACF1	23499	broad.mit.edu	37	1	39945529	39945529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:39945529C>T	ENST00000564288.1	+	98	22795	c.22018C>T	c.(22018-22020)Cag>Tag	p.Q7340*	MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q7210*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q5122*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q5252*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q5252*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q5252*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q7377*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q5760*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7210	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGAGCATCCCAGGGAATGAC	0.493000													12	26					0	0	0.001855	0	0
ZNF80	7634	broad.mit.edu	37	3	113955368	113955368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113955368C>T	ENST00000482457.2	-	1	1057	c.554G>A	c.(553-555)gGa>gAa	p.G185E		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGGCTTCTCTCCAGTGTGAAT	0.493000													29	64					0	0	0.002836	0	0
LPIN1	23175	broad.mit.edu	37	2	11923964	11923964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:11923964G>A	ENST00000256720.2	+	8	1259	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	LPIN1_ENST00000396098.1_Missense_Mutation_p.S431N|LPIN1_ENST00000425416.2_Missense_Mutation_p.S395N|LPIN1_ENST00000396099.1_Missense_Mutation_p.S431N|LPIN1_ENST00000396097.1_Missense_Mutation_p.S119N|LPIN1_ENST00000449576.2_Missense_Mutation_p.S474N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	389					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GATAAACGAAGCCGACATCTT	0.428000													67	128					0	0	0.003610	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465794	241465794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:241465794G>A	ENST00000391987.1	-	6	1121	c.755C>T	c.(754-756)cCc>cTc	p.P252L	ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P252L|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P341L|ANKMY1_ENST00000405523.3_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	252							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGCCCACAGGGTGCAAAGCC	0.527000													11	24					0	0	0.000978	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325393	47325393	+	RNA	SNP	C	C	T	rs61741514	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:47325393C>T	ENST00000505841.1	-	0	1136					NR_002788.2																						TGTTTACTACCGGTGCGTAGA	0.473000													13	53					0	0	0.001368	0	0
CACNA1S	779	broad.mit.edu	37	1	201035439	201035439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201035439C>T	ENST00000362061.3	-	21	2889	c.2663G>A	c.(2662-2664)aGt>aAt	p.S888N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S888N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	888					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAGATGGCACTGGACCTGGG	0.657000													11	34					0	0	0.001368	0	0
TEX14	56155	broad.mit.edu	37	17	56693650	56693650	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:56693650G>C	ENST00000389934.3	-	7	770	c.653C>G	c.(652-654)gCg>gGg	p.A218G	TEX14_ENST00000240361.8_Missense_Mutation_p.A224G|TEX14_ENST00000349033.5_Missense_Mutation_p.A218G	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	224						cytoplasm	ATP binding|protein kinase activity	p.A218V(1)|p.A224V(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATCTGTGTCGCCCCAGTAAG	0.468000													17	69					0	0	0.007413	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018925	211018925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:211018925G>A	ENST00000281772.9	-	2	645	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	KANSL1L_ENST00000457374.1_Missense_Mutation_p.H128Y|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000452086.1_Missense_Mutation_p.H128Y|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H128Y	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	128																	TCTTCAGAATGAGAAAGACAG	0.363000													13	28					0	0	0.004007	0	0
SYDE2	84144	broad.mit.edu	37	1	85624759	85624759	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:85624759G>C	ENST00000341460.5	-	7	3308	c.3259C>G	c.(3259-3261)Cgt>Ggt	p.R1087G		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1087					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCTGCATAACGATTGCTAAGT	0.388000													50	89					0	0	0.003610	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255750	140255750	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140255750C>T	ENST00000398631.2	+	1	693	c.693C>T	c.(691-693)acC>acT	p.T231T	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAATAACCGTCCTGGATG	0.423000													19	15					0	0	0.001216	0	0
FN1	2335	broad.mit.edu	37	2	216283967	216283967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:216283967G>A	ENST00000354785.4	-	12	2186	c.1817C>T	c.(1816-1818)cCa>cTa	p.P606L	FN1_ENST00000356005.4_Missense_Mutation_p.P606L|FN1_ENST00000357009.2_Missense_Mutation_p.P606L|FN1_ENST00000346544.3_Missense_Mutation_p.P606L|FN1_ENST00000336916.4_Missense_Mutation_p.P606L|FN1_ENST00000323926.6_Missense_Mutation_p.P606L|FN1_ENST00000426059.1_Missense_Mutation_p.P606L|FN1_ENST00000345488.5_Missense_Mutation_p.P606L|FN1_ENST00000446046.1_Missense_Mutation_p.P606L|FN1_ENST00000443816.1_Missense_Mutation_p.P606L|FN1_ENST00000432072.2_Missense_Mutation_p.P606L|FN1_ENST00000421182.1_Missense_Mutation_p.P606L|FN1_ENST00000359671.1_Missense_Mutation_p.P606L|FN1_ENST00000357867.4_Missense_Mutation_p.P606L			P02751	FINC_HUMAN	fibronectin 1	606	Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTACTTACTTGGATAGGTCTG	0.473000													13	24					0	0	0.003163	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822358	103822358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:103822358C>T	ENST00000296422.7	-	12	1605	c.1464G>A	c.(1462-1464)atG>atA	p.M488I	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	488						integral to membrane	solute:hydrogen antiporter activity										CCAGAATGCCCATAAGTAGAG	0.418000													6	152					0	0	0.003080	0	0
ILKAP	80895	broad.mit.edu	37	2	239079623	239079623	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:239079623G>A	ENST00000254654.3	-	11	1174	c.999C>T	c.(997-999)acC>acT	p.T333T		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	333	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTTCTTCTGGGGTAAAGACCT	0.438000													44	69					0	0	0.003610	0	0
NRK	203447	broad.mit.edu	37	X	105137869	105137869	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105137869G>A	ENST00000428173.2	+	6	726	c.423G>A	c.(421-423)gtG>gtA	p.V141V	NRK_ENST00000243300.9_Silent_p.V141V|NRK_ENST00000536164.1_Silent_p.V141V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	141	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTGATGTAGTGAGAATGACCA	0.383000										HNSCC(51;0.14)			15	5					0	0	0.004990	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520257	62520257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62520257G>A	ENST00000394807.3	-	2	1155	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	344	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						gctggggctggagcctgggat	0.567000													17	28					0	0	0.006122	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207854	21207854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:21207854C>T	ENST00000342679.4	+	8	934	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	MAP2K3_ENST00000361818.5_Missense_Mutation_p.P200S|MAP2K3_ENST00000316920.6_Missense_Mutation_p.P200S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	229	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGGCTGCAAGCCCTACATGGC	0.607000													4	16					0	0	0.000248	0	0
ZNF641	121274	broad.mit.edu	37	12	48738484	48738484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:48738484G>A	ENST00000544117.2	-	5	1168	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	ZNF641_ENST00000448928.3_Missense_Mutation_p.P131S|ZNF641_ENST00000547026.1_Missense_Mutation_p.P140S|ZNF641_ENST00000301042.3_Missense_Mutation_p.P154S			Q96N77	ZN641_HUMAN	zinc finger protein 641	154	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGTTTGGGAATTGGAAAT	0.403000													23	37					0	0	0.004656	0	0
LRP2	4036	broad.mit.edu	37	2	170011105	170011105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:170011105G>A	ENST00000263816.3	-	66	12445	c.12160C>T	c.(12160-12162)Cct>Tct	p.P4054S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4054					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCAACAAAGGAGAGCTACCT	0.368000													11	23					0	0	0.002450	0	0
VIPAS39	63894	broad.mit.edu	37	14	77893965	77893965	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:77893965C>T	ENST00000553888.1	-	20	1986	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	VIPAS39_ENST00000343765.2_Silent_p.K492K|VIPAS39_ENST00000327028.4_Silent_p.K479K|VIPAS39_ENST00000557658.1_Silent_p.K492K|VIPAS39_ENST00000556412.1_Silent_p.K518K|VIPAS39_ENST00000448935.2_Silent_p.K443K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CCACTTAATTCTTCCATCGAA	0.453000													13	10					0	0	0.003163	0	0
TAAR2	9287	broad.mit.edu	37	6	132938531	132938531	+	Silent	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:132938531A>G	ENST00000275191.2	-	1	786	c.679T>C	c.(679-681)Tta>Cta	p.L227L	TAAR2_ENST00000367931.1_Silent_p.L272L|TAAR2_ENST00000537809.1_Silent_p.L227L	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	272						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAACATAATAAGAAAACTCCT	0.343000													8	7					0	0	0.000978	0	0
NXF3	56000	broad.mit.edu	37	X	102338552	102338552	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:102338552G>A	ENST00000395065.3	-	4	521	c.420C>T	c.(418-420)ccC>ccT	p.P140P	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.P51P	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	140	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTGGGACGAAGGGTACACTGC	0.453000													50	22					0	0	0.003610	0	0
LEPREL1	55214	broad.mit.edu	37	3	189712072	189712072	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:189712072C>T	ENST00000319332.5	-	3	831	c.633_splice	c.e3-1	p.E212_splice	LEPREL1_ENST00000427335.2_Splice_Site_p.E31_splice	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	212					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAACTCTCCTGTAATGAA	0.358000													4	20					0	0	0.000602	0	0
GAS6	2621	broad.mit.edu	37	13	114530088	114530088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:114530088C>T	ENST00000357389.3	-	12	1639	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.G399E|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.G154E|GAS6_ENST00000327773.6_Missense_Mutation_p.G453E|GAS6_ENST00000450766.1_Missense_Mutation_p.G180E			Q14393	GAS6_HUMAN	growth arrest-specific 6	496	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGTCTTCTCCGTTCAGCCA	0.577000													22	22					0	0	0.002780	0	0
SPAG17	200162	broad.mit.edu	37	1	118558675	118558675	+	Silent	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:118558675T>A	ENST00000336338.5	-	29	4265	c.4200A>T	c.(4198-4200)ggA>ggT	p.G1400G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1400						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGATCCGATTTCCTTCAGGTG	0.473000													84	36					0	0	0.003610	0	0
MIR542	664617	broad.mit.edu	37	X	133675433	133675433	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:133675433C>T	ENST00000385050.1	-	0	34					NR_030399.1																						ACTGGTATCTCGTGACATGAT	0.418000													45	36					0	0	0.003610	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136321696	136321696	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:136321696C>T	ENST00000371929.3	+	27	4191	c.3747C>T	c.(3745-3747)acC>acT	p.T1249T	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.T45T|ADAMTS13_ENST00000356589.2_Silent_p.T1162T|ADAMTS13_ENST00000355699.2_Silent_p.T1193T|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1249	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCGGCTCACCTGGAGGAAGA	0.642000													6	21					0	0	0.000673	0	0
RERGL	79785	broad.mit.edu	37	12	18234224	18234224	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:18234224C>T	ENST00000229002.2	-	6	725	c.519G>A	c.(517-519)ctG>ctA	p.L173L	RERGL_ENST00000538724.1_Silent_p.L172L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	173	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGAAGTTTATCAGGATGTCCT	0.398000													16	20					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141762467	141762467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:141762467C>T	ENST00000475668.2	+	35	4276	c.4222C>T	c.(4222-4224)Cca>Tca	p.P1408S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1408S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1408	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCACAGAATCCAGAGAGGAG	0.433000													10	16					0	0	0.002450	0	0
WIZ	58525	broad.mit.edu	37	19	15558987	15558987	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15558987G>A	ENST00000389282.4	-	2	345	c.132C>T	c.(130-132)ttC>ttT	p.F44F	WIZ_ENST00000263381.6_Silent_p.F44F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	44						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGGTGGACCGGAAGATGCCAC	0.647000													46	41					0	0	0.003610	0	0
DUXA	503835	broad.mit.edu	37	19	57670564	57670564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:57670564C>T	ENST00000554048.2	-	3	262	c.263G>A	c.(262-264)gGg>gAg	p.G88E		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTGATCTTGCCCCTGGCTCTG	0.458000													25	41					0	0	0.001786	0	0
EVI5L	115704	broad.mit.edu	37	19	7911451	7911451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:7911451C>T	ENST00000270530.4	+	2	219	c.23C>T	c.(22-24)cCc>cTc	p.P8L	EVI5L_ENST00000538904.2_Missense_Mutation_p.P8L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	8						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTCTGAGCCCCGACTCCTCA	0.657000													6	8					0	0	0.001984	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917245	48917245	+	Missense_Mutation	SNP	C	C	T	rs142981915	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48917245C>T	ENST00000311378.4	+	2	1124	c.596C>T	c.(595-597)tCc>tTc	p.S199F	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.S106F	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	199						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACCACAGCCTCCCCAGAGACC	0.617000													16	15					0	0	0.006122	0	0
DNAJC13	23317	broad.mit.edu	37	3	132222072	132222072	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:132222072C>T	ENST00000260818.6	+	41	4979	c.4731C>T	c.(4729-4731)agC>agT	p.S1577S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1577							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGCAAACAGCCTTGCCAAAC	0.373000													8	27					0	0	0.004482	0	0
NCAM2	4685	broad.mit.edu	37	21	22881216	22881216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:22881216G>A	ENST00000400546.1	+	16	2371	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	NCAM2_ENST00000284894.7_Missense_Mutation_p.G566R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	708					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AATTGGCCTGGGAGTTGCTGC	0.378000													18	20					0	0	0.007413	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972974	69972974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:69972974C>T	ENST00000305231.7	+	4	1130	c.1084C>T	c.(1084-1086)Ctt>Ttt	p.L362F	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.L362F	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	362					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGAATGACCTTCTAGGTAA	0.348000													23	47					0	0	0.003330	0	0
SCN4A	6329	broad.mit.edu	37	17	62026854	62026854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:62026854G>A	ENST00000578147.1	-	15	2964	c.2888C>T	c.(2887-2889)tCc>tTc	p.S963F	SCN4A_ENST00000435607.1_Missense_Mutation_p.S963F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	963					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCTGCAGACGGACGAGTTCCC	0.627000													9	26					0	0	0.004482	0	0
COL5A3	50509	broad.mit.edu	37	19	10084245	10084245	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:10084245C>T	ENST00000264828.3	-	50	3752		c.e50+1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGTCACTCACCGGGATGCCT	0.622000													17	24					0	0	0.001216	0	0
FAM83G	644815	broad.mit.edu	37	17	18907103	18907103	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:18907103C>T	ENST00000388995.6	-	2	475	c.252G>A	c.(250-252)acG>acA	p.T84T	FAM83G_ENST00000585154.2_Silent_p.T84T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.T84T|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	84										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGAGGGGCCCGTGCCCCGAG	0.701000													6	4					0	0	0.001168	0	0
OR2L8	391190	broad.mit.edu	37	1	248113064	248113064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:248113064G>A	ENST00000357191.3	+	1	905	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCCTGACACGAGTGAGTCAG	0.473000													14	18					0	0	0.004990	0	0
HECW2	57520	broad.mit.edu	37	2	197184260	197184260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:197184260G>A	ENST00000260983.2	-	9	1536	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	HECW2_ENST00000409111.1_Missense_Mutation_p.P96S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	452					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			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						GTGTCAGTGGGAAAACTACTC	0.507000													5	16					0	0	0.001984	0	0
ZIK1	284307	broad.mit.edu	37	19	58102464	58102464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:58102464C>T	ENST00000597850.1	+	4	1500	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	ZIK1_ENST00000536878.2_Missense_Mutation_p.H416Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.H374Y|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCGGAGAATTCATACTGGAGC	0.463000													4	18					0	0	0.000248	0	0
HKDC1	80201	broad.mit.edu	37	10	71020984	71020984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:71020984G>A	ENST00000354624.5	+	16	2439	c.2306G>A	c.(2305-2307)gGg>gAg	p.G769E	HKDC1_ENST00000395086.2_Missense_Mutation_p.G769E	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	769					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTTCCGAGGGCAGATTTCA	0.527000													13	24					0	0	0.001855	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803578	185803578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:185803578G>A	ENST00000302277.6	+	4	4049	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1152			G -> R (in dbSNP:rs12105159).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACCAGTAGGACCGAGGCTT	0.507000													30	62					0	0	0.002096	0	0
TNR	7143	broad.mit.edu	37	1	175355369	175355369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175355369G>A	ENST00000367674.1	-	8	2284	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	TNR_ENST00000263525.2_Missense_Mutation_p.P526S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	526	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTCGAGGGGGAATCCACTCC	0.542000													5	12					0	0	0.001168	0	0
PCDH8	5100	broad.mit.edu	37	13	53422533	53422533	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:53422533G>A	ENST00000377942.3	-	1	242	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PCDH8_ENST00000338862.4_Silent_p.F13F	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	13					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCTGCAAGGGGAAAAGGCAGG	0.607000													15	25					0	0	0.002450	0	0
SFT2D2	375035	broad.mit.edu	37	1	168211762	168211762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:168211762C>T	ENST00000271375.3	+	8	539	c.467C>T	c.(466-468)gCc>gTc	p.A156V	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	156					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					AAGTGTTTTGCCGTGTGTCTT	0.458000													34	58					0	0	0.004289	0	0
NR4A2	4929	broad.mit.edu	37	2	157186237	157186237	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:157186237C>T	ENST00000339562.4	-	3	824	c.462G>A	c.(460-462)caG>caA	p.Q154Q	NR4A2_ENST00000426264.1_Silent_p.Q91Q|NR4A2_ENST00000539077.1_Silent_p.Q165Q|NR4A2_ENST00000409572.1_Silent_p.Q154Q|NR4A2_ENST00000429376.1_Silent_p.Q91Q|NR4A2_ENST00000409108.2_Silent_p.Q154Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	154	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCACGTAGTTCTGGTGGAAGT	0.632000													48	77					0	0	0.003214	0	0
RP1L1	94137	broad.mit.edu	37	8	10465899	10465899	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:10465899T>C	ENST00000382483.3	-	4	5932	c.5709A>G	c.(5707-5709)tcA>tcG	p.S1903S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1903					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCACCTTCTGACTCTGGCT	0.587000													48	36					0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152193255	152193255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152193255C>T	ENST00000368801.2	-	3	925	c.850G>A	c.(850-852)Ggt>Agt	p.G284S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	284					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCATAGCTGGAA	0.592000													44	105					0	0	0.003610	0	0
HTR5A	3361	broad.mit.edu	37	7	154876129	154876129	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:154876129C>T	ENST00000287907.2	+	2	1582	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	336						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTTAACCCCCTGATCTATAC	0.488000													32	72					0	0	0.003755	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204409	125204409	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:125204409G>A	ENST00000431078.1	+	6	1177	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	271	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGCACTCGGTCCTCATTG	0.612000													11	27					0	0	0.000978	0	0
ZNF407	55628	broad.mit.edu	37	18	72346877	72346877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:72346877C>T	ENST00000299687.5	+	1	3902	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZNF407_ENST00000582337.1_Missense_Mutation_p.P1301L|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1301L|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1301L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGAAGATCCCGTTCTGGGG	0.448000													3	9					0	0	0.004672	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262362	67262362	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:67262362G>A	ENST00000356404.3	-	18	2922	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.F898F|PITPNM1_ENST00000534749.1_Silent_p.F899F	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	899					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTCCCTGGGGAAGGCCGGGC	0.672000													39	54					0	0	0.002522	0	0
MASP1	5648	broad.mit.edu	37	3	186940961	186940961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:186940961C>T	ENST00000337774.5	-	14	2152	c.1763G>A	c.(1762-1764)gGc>gAc	p.G588D		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	588	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTTCCCCCAGCCGCTGACGAT	0.537000													16	41					0	0	0.001216	0	0
TDRKH	11022	broad.mit.edu	37	1	151748675	151748675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:151748675G>A	ENST00000368822.1	-	8	1747	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	TDRKH_ENST00000368823.1_Nonsense_Mutation_p.R368*|TDRKH_ENST00000440583.2_Nonsense_Mutation_p.R148*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.R327*			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	372	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGGGCTCGATACCAGGAA	0.507000													23	41					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179453660	179453660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179453660C>T	ENST00000589042.1	-	304	63016	c.62792G>A	c.(62791-62793)gGa>gAa	p.G20931E	TTN_ENST00000342175.6_Missense_Mutation_p.G12058E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18363E|TTN_ENST00000359218.5_Missense_Mutation_p.G11991E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11866E|TTN_ENST00000591111.1_Missense_Mutation_p.G19290E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19290	Ig-like 112.						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)			ATATTCATTTCCTTCTATGAG	0.378000													6	12					0	0	0.001168	0	0
TJP2	9414	broad.mit.edu	37	9	71861675	71861675	+	Missense_Mutation	SNP	A	A	T	rs75450131	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:71861675A>T	ENST00000377245.4	+	18	2844	c.2636A>T	c.(2635-2637)cAa>cTa	p.Q879L	TJP2_ENST00000539225.1_Missense_Mutation_p.Q910L|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000265384.7_Missense_Mutation_p.Q879L|TJP2_ENST00000348208.4_Missense_Mutation_p.Q879L|TJP2_ENST00000453658.2_Missense_Mutation_p.Q856L|TJP2_ENST00000535702.1_Missense_Mutation_p.Q883L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	879					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAGCATCAGCAAGGAGAAGCG	0.423000													13	54					0	0	0.001855	0	0
MPDZ	8777	broad.mit.edu	37	9	13119586	13119586	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:13119586C>G	ENST00000319217.7	-	39	5541	c.5294G>C	c.(5293-5295)aGa>aCa	p.R1765T	MPDZ_ENST00000381022.2_Missense_Mutation_p.R1765T|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1765T|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1732T|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1732T|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.R1779T|MPDZ_ENST00000538841.1_Missense_Mutation_p.R624T|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1765T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1765	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGCATCAGTCTTCCATCGGC	0.413000													29	26					0	0	0.001786	0	0
KIF26B	55083	broad.mit.edu	37	1	245704184	245704184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:245704184C>T	ENST00000366518.4	+	2	243	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KIF26B_ENST00000407071.2_Missense_Mutation_p.P428S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	428					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCAGACCTCCCCTCCCCCAGC	0.592000													17	32					0	0	0.004007	0	0
GPR115	221393	broad.mit.edu	37	6	47682264	47682264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:47682264C>T	ENST00000283303.2	+	6	1541	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	GPR115_ENST00000327753.3_Missense_Mutation_p.S428F|GPR115_ENST00000371220.1_Missense_Mutation_p.S485F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	428					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACAGTGTGGTCCCGGGTGGTT	0.493000													34	28					0	0	0.003755	0	0
TPCN2	219931	broad.mit.edu	37	11	68854621	68854621	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:68854621C>T	ENST00000294309.3	+	24	2228	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	TPCN2_ENST00000542467.1_Silent_p.P527P|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	709					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTGCAGCCCCTTGCTGGGA	0.637000													5	22					0	0	0.001168	0	0
HERPUD1	9709	broad.mit.edu	37	16	56976092	56976092	+	Silent	SNP	C	C	T	rs34040285		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:56976092C>T	ENST00000439977.2	+	7	1151	c.954C>T	c.(952-954)ttC>ttT	p.F318F	HERPUD1_ENST00000379792.2_Silent_p.F293F|HERPUD1_ENST00000300302.5_Silent_p.F317F|HERPUD1_ENST00000344114.4_Silent_p.F159F|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	318						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCAGAACTTCCCAAATGATG	0.488000			T	ERG	prostate								38	67					0	0	0.002222	0	0
ULK4	54986	broad.mit.edu	37	3	41959954	41959954	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:41959954G>C	ENST00000301831.4	-	7	1184	c.722C>G	c.(721-723)cCg>cGg	p.P241R	ULK4_ENST00000420927.1_Missense_Mutation_p.P241R	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTACCTTTCGGAATAGGTGG	0.318000													18	50					0	0	0.001523	0	0
EPB41L5	57669	broad.mit.edu	37	2	120858317	120858317	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:120858317T>G	ENST00000263713.5	+	16	1478	c.1264T>G	c.(1264-1266)Tcc>Gcc	p.S422A	EPB41L5_ENST00000443902.2_Missense_Mutation_p.S422A|EPB41L5_ENST00000452780.1_Missense_Mutation_p.S422A|EPB41L5_ENST00000443124.1_Missense_Mutation_p.S422A|EPB41L5_ENST00000331393.4_Missense_Mutation_p.S422A	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	422						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TCCTTccatttcctctgctcc	0.413000													8	9					0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79443874	79443874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:79443874G>A	ENST00000264895.6	+	69	11160	c.10720G>A	c.(10720-10722)Gga>Aga	p.G3574R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3569					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACCTAGGAGGAATTGAATT	0.423000													5	12					0	0	0.000602	0	0
GRIA1	2890	broad.mit.edu	37	5	153174180	153174180	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:153174180G>A	ENST00000285900.5	+	14	2613		c.e14-1		GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTTTTTAAAGAAATCCAGTA	0.473000													11	9					0	0	0.000673	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489377	133489377	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:133489377G>A	ENST00000409261.1	-	17	5749	c.5376C>T	c.(5374-5376)tcC>tcT	p.S1792S	NCKAP5_ENST00000409213.1_Silent_p.S473S|NCKAP5_ENST00000405974.3_Silent_p.S473S|NCKAP5_ENST00000317721.6_Silent_p.S1792S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1792							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGATGGGGTCGGATGTGGAAT	0.547000													25	37					0	0	0.005443	0	0
ROBO1	6091	broad.mit.edu	37	3	78667166	78667166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:78667166G>A	ENST00000436010.2	-	25	4781	c.3784C>T	c.(3784-3786)Cca>Tca	p.P1262S	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1201S|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1301S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1256S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1301					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCCGTGGTGGTGGAGGAGGA	0.478000													8	25					0	0	0.006214	0	0
OR10G2	26534	broad.mit.edu	37	14	22102462	22102462	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:22102462C>T	ENST00000542433.1	-	1	634	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAAGTAATCCACCTGATTGG	0.572000													18	37					0	0	0.007413	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926633	22926633	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:22926633T>G	ENST00000261374.3	+	2	1288	c.854T>G	c.(853-855)aTg>aGg	p.M285R		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	285						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCCGGCGAGATGGGGCGAGTC	0.522000													24	87					0	0	0.003330	0	0
CHRD	8646	broad.mit.edu	37	3	184106458	184106458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:184106458C>T	ENST00000204604.1	+	21	2884	c.2638C>T	c.(2638-2640)Cca>Tca	p.P880S	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.P422S|CHRD_ENST00000348986.3_Missense_Mutation_p.P840S|CHRD_ENST00000450923.1_Missense_Mutation_p.P880S	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	880	VWFC 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGTGGTTCCCAGAGAGTCA	0.637000													20	54					0	0	0.002299	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199520	71199520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:71199520C>T	ENST00000554752.2	-	11	2565	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	MAP3K9_ENST00000554146.1_Missense_Mutation_p.E584K|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E589K|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E870K|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E833K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	856					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACGACAATTTCATCGCTGTCG	0.602000													13	9					0	0	0.001855	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11254942	11254942	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11254942C>T	ENST00000376819.3	+	5	1142	c.903C>T	c.(901-903)tcC>tcT	p.S301S	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	301	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCACAGACTCCAACCTCAATG	0.517000													10	24					0	0	0.000673	0	0
XIRP2	129446	broad.mit.edu	37	2	168105004	168105004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:168105004C>T	ENST00000409195.1	+	9	7191	c.7102C>T	c.(7102-7104)Cct>Tct	p.P2368S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2368S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2146S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2193					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCGCCTCCTCCTCCTCCAAC	0.473000													28	63					0	0	0.005443	0	0
OR8B12	219858	broad.mit.edu	37	11	124413323	124413323	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:124413323G>A	ENST00000306842.2	-	1	252	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTGGGAGTGATGGTAGTGG	0.428000													10	14					0	0	0.006214	0	0
FAM57B	83723	broad.mit.edu	37	16	30040777	30040777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30040777G>A	ENST00000380495.4	-	2	916	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM57B_ENST00000564806.1_Missense_Mutation_p.S12F|FAM57B_ENST00000279389.4_Missense_Mutation_p.S12F	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	62	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGCTTGCAGGAGGTGGAGAC	0.607000													9	11					0	0	0.006214	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512492	98512492	+	Silent	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:98512492A>G	ENST00000268042.6	+	5	929	c.765A>G	c.(763-765)cgA>cgG	p.R255R	ARRDC4_ENST00000538249.1_Silent_p.R168R	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	255					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CCAATGTGCGAGGAAACCACA	0.468000													13	20					0	0	0.002450	0	0
DHX37	57647	broad.mit.edu	37	12	125441594	125441594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:125441594G>A	ENST00000308736.2	-	17	2343	c.2245C>T	c.(2245-2247)Ccg>Tcg	p.P749S	DHX37_ENST00000544745.1_Missense_Mutation_p.P536S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	749							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTCTGGGGCGGTTGCAGGGCA	0.627000													24	36					0	0	0.003330	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202914124	202914124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:202914124G>A	ENST00000340990.5	-	5	902	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R202W|ADIPOR1_ENST00000367254.3_Intron	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	202					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.R202R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GAAAAAGTCCGAGAGACTTTC	0.453000													39	75					0	0	0.002222	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768148	77768148	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:77768148C>G	ENST00000521891.2	+	10	9439	c.8991C>G	c.(8989-8991)atC>atG	p.I2997M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.I2971M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2952M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2952M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2952						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTTCATGATCAATCAAGGCG	0.473000										HNSCC(33;0.089)			6	23					0	0	0.003080	0	0
PCSK5	5125	broad.mit.edu	37	9	78842419	78842419	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:78842419G>A	ENST00000545128.1	+	21	3165	c.2626_splice	c.e21-1	p.G876_splice		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	876	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTTCCCCAGGAGAATATGTT	0.527000													3	10					0	0	0.004672	0	0
TPH1	7166	broad.mit.edu	37	11	18047183	18047183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:18047183G>A	ENST00000250018.2	-	7	1431	c.869C>T	c.(868-870)tCc>tTc	p.S290F	TPH1_ENST00000341556.2_Missense_Mutation_p.S290F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	290					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AATTTCTTGGGAGAATTGGGC	0.463000													27	19					0	0	0.006320	0	0
ZNF676	163223	broad.mit.edu	37	19	22363473	22363473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:22363473G>A	ENST00000397121.2	-	3	1363	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGGATTGAGGATCGATTAAA	0.403000													10	17					0	0	0.000673	0	0
KIAA1199	57214	broad.mit.edu	37	15	81171205	81171205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:81171205G>A	ENST00000394685.3	+	4	657	c.238G>A	c.(238-240)Gga>Aga	p.G80R	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G80R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G80R			Q8WUJ3	K1199_HUMAN	KIAA1199	80	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CATCTCAGAGGGAGGTAAGCC	0.547000													21	50					0	0	0.002299	0	0
CHIA	27159	broad.mit.edu	37	1	111854318	111854318	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:111854318C>T	ENST00000369740.1	+	3	136	c.33C>T	c.(31-33)gtC>gtT	p.V11V	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Silent_p.V11V|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	11					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CAGGTCTTGTCCTTATACTGA	0.383000													36	78					0	0	0.007835	0	0
C4BPA	722	broad.mit.edu	37	1	207318012	207318012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:207318012G>A	ENST00000367070.3	+	12	1938	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	582					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGAACAACTGGAACTACAGAG	0.443000													8	19					0	0	0.006214	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209040	65209040	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:65209040C>T	ENST00000247226.7	+	14	2945	c.2637C>T	c.(2635-2637)ctC>ctT	p.L879L	PLEKHG3_ENST00000394691.1_Silent_p.L935L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.L468L|PLEKHG3_ENST00000484731.2_Silent_p.L440L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	935					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGTACAGCCTCCGGATCAAGA	0.622000													4	9					0	0	0.001168	0	0
PADI3	51702	broad.mit.edu	37	1	17597630	17597630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:17597630C>T	ENST00000375460.3	+	9	1044	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	335					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAAGCTGACCATCTGCCCA	0.632000													15	13					0	0	0.004990	0	0
KIF17	57576	broad.mit.edu	37	1	21011439	21011439	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:21011439C>T	ENST00000247986.2	-	10	2404	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	KIF17_ENST00000375044.1_Silent_p.Q598Q|KIF17_ENST00000400463.3_Silent_p.Q698Q|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	698					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACCGGGGCCTGAGCCTCCA	0.647000													3	6					0	0	0.004672	0	0
JPH3	57338	broad.mit.edu	37	16	87723259	87723259	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:87723259G>A	ENST00000284262.2	+	4	1535	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	431					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAGGGCTGGAGTACCAGAGGC	0.667000													5	2					0	0	0.001168	0	0
C19orf53	28974	broad.mit.edu	37	19	13888974	13888974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:13888974G>A	ENST00000588234.1	+	3	572	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	C19orf53_ENST00000593274.1_Missense_Mutation_p.G45R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	88										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CAAGAAGAAAGGGGCAGCTGC	0.597000													14	43					0	0	0.001855	0	0
CTAG2	30848	broad.mit.edu	37	X	153880851	153880851	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153880851G>A	ENST00000247306.4	-	2	387	c.324C>T	c.(322-324)atC>atT	p.I108I	CTAG2_ENST00000369585.3_Silent_p.I108I	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	108						centrosome		p.I108I(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGGACAGGATCCTGCGGA	0.612000													22	7					0	0	0.003330	0	0
MIR7-2	407044	broad.mit.edu	37	15	89155069	89155069	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:89155069G>A	ENST00000384970.1	+	0	14					NR_029606.1|NR_039867.1																						GATACAGAGTGGACCGGCTGG	0.587000													7	7					0	0	0.004482	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401410	77401410	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:77401410A>T	ENST00000282849.5	-	4	1124	c.706T>A	c.(706-708)Tct>Act	p.S236T	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	236					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						CGACTCTGAGATGCATGGGGA	0.483000													18	61					0	0	0.001216	0	0
UNC13D	201294	broad.mit.edu	37	17	73839597	73839597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:73839597G>A	ENST00000207549.4	-	2	500	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Q41*	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	41					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGGAGGCTGGATCTGCAGA	0.642000									Familial Hemophagocytic Lymphohistiocytosis				10	15					0	0	0.000978	0	0
FSHR	2492	broad.mit.edu	37	2	49244644	49244644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:49244644G>A	ENST00000406846.2	-	4	477	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	FSHR_ENST00000346173.3_Missense_Mutation_p.P120S|FSHR_ENST00000304421.4_Missense_Mutation_p.P120S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	120					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGAAGGTTGGGAAGGTTCTGG	0.403000									Gonadal Dysgenesis, 46 XX				9	22					0	0	0.000978	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190432	50190432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:50190432G>A	ENST00000335999.6	-	8	1412	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	400	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTAAGGAAGGGGAGGGGCCC	0.627000													4	19					0	0	0.000602	0	0
ERAL1	26284	broad.mit.edu	37	17	27182104	27182104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:27182104G>A	ENST00000254928.5	+	1	149	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	18				RV -> KI (in Ref. 3; AAG12978).	ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGTGTTAAGAGTCTGGCAGGT	0.637000													13	11					0	0	0.001855	0	0
OR5R1	219479	broad.mit.edu	37	11	56185322	56185322	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56185322G>A	ENST00000312253.1	-	1	386	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAATGCAGGGGACTACAGA	0.468000													25	39					0	0	0.003954	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65862521	65862521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:65862521G>A	ENST00000261875.5	+	8	919	c.753G>A	c.(751-753)tgG>tgA	p.W251*	PTPLAD1_ENST00000442729.2_Nonsense_Mutation_p.W196*|PTPLAD1_ENST00000566074.1_Nonsense_Mutation_p.W134*|PTPLAD1_ENST00000565299.1_Nonsense_Mutation_p.W289*|PTPLAD1_ENST00000562901.1_Nonsense_Mutation_p.W134*|PTPLAD1_ENST00000569894.1_Nonsense_Mutation_p.W134*|PTPLAD1_ENST00000568793.1_Nonsense_Mutation_p.W226*|PTPLAD1_ENST00000566511.1_Nonsense_Mutation_p.W134*	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	251					activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTATTTGTGGAGTGCAATTG	0.383000													16	36					0	0	0.007413	0	0
CD22	933	broad.mit.edu	37	19	35829139	35829139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35829139C>T	ENST00000085219.5	+	6	1120	c.1054C>T	c.(1054-1056)Ctt>Ttt	p.L352F	CD22_ENST00000419549.2_Missense_Mutation_p.L180F|CD22_ENST00000536635.2_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.L352F|CD22_ENST00000270311.6_Missense_Mutation_p.L232F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	352	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGTCGAGTTTCTTTGCATGTC	0.537000													21	30					0	0	0.003954	0	0
C8orf4	56892	broad.mit.edu	37	8	40011065	40011065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:40011065G>A	ENST00000315792.3	+	1	77	c.14G>A	c.(13-15)cGa>cAa	p.R5Q		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	5					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AAAGCAAAGCGAAGCCACCAA	0.517000													13	8					0	0	0.002450	0	0
ABCA10	10349	broad.mit.edu	37	17	67212047	67212047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:67212047C>T	ENST00000269081.4	-	9	1676	c.767G>A	c.(766-768)gGa>gAa	p.G256E	ABCA10_ENST00000416101.2_Missense_Mutation_p.G256E|ABCA10_ENST00000432313.2_Missense_Mutation_p.G256E	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	256					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACAGTGAATCCCAGACATCC	0.423000													20	57					0	0	0.001523	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794925	124794925	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:124794925C>T	ENST00000298251.4	-	2	531	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	42	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGCCATGGATCAGGCGCACGG	0.617000													11	9					0	0	0.000978	0	0
TNR	7143	broad.mit.edu	37	1	175328855	175328855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175328855G>A	ENST00000367674.1	-	15	3575	c.2867C>T	c.(2866-2868)cCt>cTt	p.P956L	TNR_ENST00000263525.2_Missense_Mutation_p.P956L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	956	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P956H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGATCCACAGGGTTGTCCAT	0.473000													12	26					0	0	0.001368	0	0
ZFPM1	161882	broad.mit.edu	37	16	88599317	88599317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:88599317G>A	ENST00000319555.3	+	9	1485	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	388					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCAGGGGCCGGACACCCAGCA	0.647000													11	24					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179614760	179614760	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179614760C>A	ENST00000360870.5	-	46	12589	c.12367G>T	c.(12367-12369)Gtg>Ttg	p.V4123L	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3477							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)			GTTTGAAACACTTCTTTAGAC	0.393000													18	25					1.55795e-14	2.04314e-14	0.001882	1	0
FAM74A3	728495	broad.mit.edu	37	9	40716266	40716266	+	RNA	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:40716266A>T	ENST00000604146.1	+	0	605					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATCAATTTTAGTAATTCAGG	0.428000													7	45					0	0	0.004482	0	0
TLE6	79816	broad.mit.edu	37	19	2987014	2987014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:2987014C>T	ENST00000246112.4	+	7	520	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_5'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	0					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCCTGGGACGCCCCAGCAGGT	0.637000													9	6					0	0	0.004482	0	0
TTLL5	23093	broad.mit.edu	37	14	76245981	76245981	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:76245981C>T	ENST00000298832.9	+	24	2656	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000556893.1_Silent_p.F368F|TTLL5_ENST00000554510.1_Silent_p.F326F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	817					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTAGTGTCTTCCTGGGGACTC	0.393000													10	15					0	0	0.001368	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694134	129694134	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:129694134C>T	ENST00000422113.2	-	5	1700	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	458						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGCCGTCGTCCTCCACGGAGA	0.567000													9	11					0	0	0.000673	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515945	101515945	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:101515945G>A	ENST00000553692.1	+	0	28				MIR655_ENST00000362159.2_RNA																							CATTCATCATGAATAATACAT	0.483000													22	19					0	0	0.002299	0	0
USP40	55230	broad.mit.edu	37	2	234460057	234460057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234460057G>A	ENST00000251722.6	-	7	919	c.802C>T	c.(802-804)Cct>Tct	p.P268S	USP40_ENST00000427112.2_Missense_Mutation_p.P268S|USP40_ENST00000450966.1_Missense_Mutation_p.P280S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	268					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ATCCGGAGAGGGAATGTATAA	0.338000													7	13					0	0	0.004482	0	0
LRRN2	10446	broad.mit.edu	37	1	204587896	204587896	+	Missense_Mutation	SNP	G	G	A	rs141763834		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:204587896G>A	ENST00000367175.1	-	1	3437	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	LRRN2_ENST00000367176.3_Missense_Mutation_p.R409C|LRRN2_ENST00000367177.3_Missense_Mutation_p.R409C			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	409	LRRCT.				cell adhesion	integral to membrane	receptor activity	p.R409C(1)		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)			GGCACCTCACGGACCGGGAGG	0.657000													13	24					0	0	0.001855	0	0
LCA5	167691	broad.mit.edu	37	6	80223458	80223458	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:80223458G>A	ENST00000392959.1	-	4	802	c.190_splice	c.e4-1	p.A64_splice	LCA5_ENST00000467898.2_Splice_Site_p.A64_splice|LCA5_ENST00000369846.4_Splice_Site_p.A64_splice	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	64					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTCCGAGGGGCTAAAAAAGA	0.433000													49	43					0	0	0.003610	0	0
ACRC	93953	broad.mit.edu	37	X	70817802	70817802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70817802C>T	ENST00000373695.1	+	6	761	c.224C>T	c.(223-225)tCc>tTc	p.S75F	ACRC_ENST00000373696.3_Missense_Mutation_p.S75F			Q96QF7	ACRC_HUMAN	acidic repeat containing	75						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCACTCAGCTCCGTGGTAGTG	0.398000													4	10					0	0	0.000602	0	0
ANTXR2	118429	broad.mit.edu	37	4	80952847	80952847	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:80952847C>T	ENST00000403729.2	-	10	1322		c.e10-1		ANTXR2_ENST00000307333.7_Splice_Site|ANTXR2_ENST00000404191.1_Splice_Site|ANTXR2_ENST00000295465.4_Splice_Site|ANTXR2_ENST00000346652.6_Intron	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2							endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTTTTACACCTAGAAAATAA	0.323000									Juvenile Hyaline Fibromatosis				3	6					0	0	0.000248	0	0
DDX50	79009	broad.mit.edu	37	10	70670979	70670979	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70670979A>G	ENST00000373585.3	+	4	723	c.616A>G	c.(616-618)Att>Gtt	p.I206V		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TCAAGAAACAATTAAAAAAAG	0.373000													27	56					0	0	0.001512	0	0
TRPM5	29850	broad.mit.edu	37	11	2436352	2436352	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:2436352G>A	ENST00000452833.1	-	9	1492	c.1485_splice	c.e9+1	p.A495_splice	TRPM5_ENST00000533060.1_Splice_Site_p.A493_splice|TRPM5_ENST00000528453.1_Splice_Site_p.A493_splice|TRPM5_ENST00000155858.6_Splice_Site_p.A493_splice			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	493						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCGCTCACCGCCCTCCTGCG	0.731000													10	10					0	0	0.006214	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032847	16032847	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:16032847C>T	ENST00000326742.7	-	8	1116	c.1115_splice	c.e8+1	p.W372_splice	CYP4F11_ENST00000248041.7_Splice_Site_p.W372_splice|CYP4F11_ENST00000402119.3_Splice_Site_p.W372_splice			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	372					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGCACTCACCATTCAATCTC	0.498000													8	35					0	0	0.004482	0	0
ANXA5	308	broad.mit.edu	37	4	122593728	122593728	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:122593728G>A	ENST00000296511.5	-	9	870	c.585C>T	c.(583-585)atC>atT	p.I195I	ANXA5_ENST00000501272.2_Silent_p.I135I|ANXA5_ENST00000515017.1_Silent_p.I95I	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	195					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CAAAGATGGTGATAAACTTTT	0.373000													9	33					0	0	0.006214	0	0
MYH10	4628	broad.mit.edu	37	17	8455375	8455375	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:8455375T>A	ENST00000360416.3	-	9	1046	c.908A>T	c.(907-909)gAa>gTa	p.E303V	MYH10_ENST00000269243.4_Missense_Mutation_p.E293V|MYH10_ENST00000379980.4_Missense_Mutation_p.E309V|MYH10_ENST00000396239.1_Missense_Mutation_p.E293V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	293	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTTTAGGTGTTCTCCTGCTCC	0.328000													18	6					0	0	0.002299	0	0
TCTE1	202500	broad.mit.edu	37	6	44255329	44255329	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:44255329G>A	ENST00000371505.4	-	2	356	c.234C>T	c.(232-234)ctC>ctT	p.L78L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	78										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTCTGTGAGGAGGGGCACGA	0.582000													6	12					0	0	0.001168	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004596	18004596	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:18004596C>T	ENST00000222248.3	+	15	2189	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	614					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTCTGTTTTTCTTGGGGCAGA	0.577000													7	2					0	0	0.003080	0	0
PLCB4	5332	broad.mit.edu	37	20	9351883	9351883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:9351883G>A	ENST00000378501.2	+	7	541	c.526G>A	c.(526-528)Gga>Aga	p.G176R	PLCB4_ENST00000278655.4_Missense_Mutation_p.G176R|PLCB4_ENST00000414679.2_Missense_Mutation_p.G176R|PLCB4_ENST00000334005.3_Missense_Mutation_p.G176R|PLCB4_ENST00000378493.1_Missense_Mutation_p.G176R|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G176R	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	176					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTGCATCGGGAAAAACAGA	0.358000													18	54					0	0	0.001216	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300793	103300793	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:103300793C>T	ENST00000233969.2	+	5	1565	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	475						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTCTTCATTCTGGTAAGTAG	0.388000													18	51					0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82579779	82579779	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82579779G>A	ENST00000423517.2	-	6	10462	c.10125C>T	c.(10123-10125)acC>acT	p.T3375T	PCLO_ENST00000437081.1_Silent_p.T95T|PCLO_ENST00000333891.8_Silent_p.T3375T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3306					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGACTGAACGGTGTACCATC	0.458000													10	16					0	0	0.006214	0	0
OLFM3	118427	broad.mit.edu	37	1	102312501	102312501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:102312501G>A	ENST00000338858.5	-	1	28	c.29C>T	c.(28-30)gCt>gTt	p.A10V	OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.A10V|OLFM3_ENST00000462354.1_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3	10						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACTAAGCACAGCGCCAAGCTT	0.537000													18	33					0	0	0.007413	0	0
KLB	152831	broad.mit.edu	37	4	39439414	39439414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:39439414G>A	ENST00000257408.4	+	3	1501	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	468	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCTTTGAATGGCAGGATGCTT	0.418000													27	49					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179422840	179422840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179422840C>T	ENST00000589042.1	-	328	87465	c.87241G>A	c.(87241-87243)Gat>Aat	p.D29081N	TTN_ENST00000342175.6_Missense_Mutation_p.D20208N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26513N|TTN_ENST00000359218.5_Missense_Mutation_p.D20141N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20016N|TTN_ENST00000591111.1_Missense_Mutation_p.D27440N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27440	Fibronectin type-III 112.						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)			GGGACACCATCTCTTGATAAG	0.423000													29	49					0	0	0.006320	0	0
ACACB	32	broad.mit.edu	37	12	109673144	109673144	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109673144C>T	ENST00000338432.7	+	32	4493	c.4374C>T	c.(4372-4374)ctC>ctT	p.L1458L	ACACB_ENST00000377848.3_Silent_p.L1458L|ACACB_ENST00000543201.1_Silent_p.L124L|ACACB_ENST00000377854.5_Silent_p.L1388L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1458					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATTATGGACTCCGACGAATCA	0.388000													14	40					0	0	0.004007	0	0
OR2B11	127623	broad.mit.edu	37	1	247615041	247615041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:247615041C>T	ENST00000318749.6	-	1	267	c.244G>A	c.(244-246)Gtc>Atc	p.V82I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATCTGAGGGACTGTCGTGGTG	0.562000													24	44					0	0	0.003330	0	0
SCG3	29106	broad.mit.edu	37	15	51993421	51993421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:51993421G>A	ENST00000220478.3	+	10	1590	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	SCG3_ENST00000542355.2_Missense_Mutation_p.G164E	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	396					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)		AACCCAGGAGGAAAGACAGAT	0.433000													9	23					0	0	0.006214	0	0
FLNC	2318	broad.mit.edu	37	7	128490508	128490508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:128490508C>T	ENST00000325888.8	+	32	5630	c.5369C>T	c.(5368-5370)cCc>cTc	p.P1790L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1757L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1790					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						CTGGTCATCCCCTTCGCGGTG	0.612000													41	58					0	0	0.002852	0	0
OR1S2	219958	broad.mit.edu	37	11	57971029	57971029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:57971029C>T	ENST00000302592.6	-	1	624	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AACACAAGCTCATTGATCATT	0.443000													23	46					0	0	0.002780	0	0
PPM1A	5494	broad.mit.edu	37	14	60750007	60750007	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:60750007G>T	ENST00000395076.4	+	2	1016	c.586G>T	c.(586-588)Gcc>Tcc	p.A196S	PPM1A_ENST00000325642.3_Missense_Mutation_p.A269S|PPM1A_ENST00000325658.3_Missense_Mutation_p.A196S|PPM1A_ENST00000529574.1_Missense_Mutation_p.A196S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	196					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGTATCGAGGGCCCTTGGGGA	0.458000													31	46					5.45727e-16	7.17155e-16	0.001512	1	0
PEG3	5178	broad.mit.edu	37	19	57335922	57335922	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:57335922G>A	ENST00000326441.9	-	4	465	c.102C>T	c.(100-102)atC>atT	p.I34I	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.I34I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000593695.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	34					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTCCTATGATGACATCCG	0.483000													22	39					0	0	0.002299	0	0
ACOXL	55289	broad.mit.edu	37	2	111556243	111556243	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:111556243C>T	ENST00000389811.4	+	6	626	c.402C>T	c.(400-402)gcC>gcT	p.A134A	ACOXL_ENST00000340561.4_Silent_p.A134A|ACOXL_ENST00000439055.1_Silent_p.A134A			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	134					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTGGAAATGCCATGTACGGGA	0.413000													22	38					0	0	0.002780	0	0
SCN10A	6336	broad.mit.edu	37	3	38743502	38743502	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:38743502C>T	ENST00000449082.2	-	26	4484	c.4485G>A	c.(4483-4485)gtG>gtA	p.V1495V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1495					sensory perception	voltage-gated sodium channel complex		p.V1495V(1)		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)	CATCAGTCTCCACCATCATGG	0.448000													18	33					0	0	0.001216	0	0
PAQR8	85315	broad.mit.edu	37	6	52268165	52268165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:52268165C>T	ENST00000442253.2	+	2	328	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	PAQR8_ENST00000360726.3_Missense_Mutation_p.R52C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	52					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GCCTTACATCCGCACCGGCTA	0.607000													13	17					0	0	0.003163	0	0
RP1	6101	broad.mit.edu	37	8	55540583	55540583	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:55540583A>C	ENST00000220676.1	+	4	4289	c.4141A>C	c.(4141-4143)Aaa>Caa	p.K1381Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1381					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCTGAATATAAAAATGGATT	0.328000													25	48					0	0	0.003330	0	0
EDAR	10913	broad.mit.edu	37	2	109522810	109522810	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:109522810C>T	ENST00000409271.1	-	11	1517	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	EDAR_ENST00000376651.1_Silent_p.R358R|EDAR_ENST00000258443.2_Silent_p.R326R			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	326	Death.		R -> Q (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGATCTTTTTCCTCCGGCTTT	0.507000													7	41					0	0	0.003080	0	0
OR9G1	390174	broad.mit.edu	37	11	56468463	56468463	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56468463C>T	ENST00000312153.1	+	1	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGATGTACTTCCTGCTGGCCT	0.512000													14	83					0	0	0.002450	0	0
CDCA5	113130	broad.mit.edu	37	11	64847068	64847068	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:64847068G>A	ENST00000275517.3	-	5	607	c.435C>T	c.(433-435)tcC>tcT	p.S145S	CDCA5_ENST00000404147.3_Silent_p.S145S	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	145					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCGGCTGTAGGAACGCCTGA	0.632000													5	15					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9061528	9061528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9061528G>A	ENST00000397910.4	-	3	26121	c.25918C>T	c.(25918-25920)Cat>Tat	p.H8640Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8642	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						GAGGAGGGATGAATTTTCTCT	0.433000													29	31					0	0	0.001512	0	0
ATP1A3	478	broad.mit.edu	37	19	42482796	42482796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:42482796G>A	ENST00000545399.1	-	12	1784	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A542V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A531V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A501V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	531					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCAAGGTAGGCATTCTGGAA	0.667000													24	39					0	0	0.003330	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298344	67298344	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67298344G>A	ENST00000299798.11	+	13	1997	c.1932G>A	c.(1930-1932)cgG>cgA	p.R644R		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	644					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGAAGCGGCGGCTGGAGTCCT	0.577000													9	17					0	0	0.004482	0	0
HHLA2	11148	broad.mit.edu	37	3	108072514	108072514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:108072514G>A	ENST00000357759.5	+	4	719	c.305G>A	c.(304-306)gGg>gAg	p.G102E	HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Missense_Mutation_p.G102E|HHLA2_ENST00000467761.1_Missense_Mutation_p.G102E|HHLA2_ENST00000489514.2_Missense_Mutation_p.G102E	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTCAAAATGGGAATGCGTCG	0.398000													12	23					0	0	0.001368	0	0
SLIT2	9353	broad.mit.edu	37	4	20599938	20599938	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:20599938C>T	ENST00000504154.1	+	33	3864	c.3612C>T	c.(3610-3612)gaC>gaT	p.D1204D	SLIT2_ENST00000503823.1_Silent_p.D1196D|SLIT2_ENST00000273739.5_Silent_p.D1217D|SLIT2_ENST00000503837.1_Silent_p.D1200D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1204	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGACAAAGACCATATCGCGG	0.493000													38	70					0	0	0.004289	0	0
POU6F1	5463	broad.mit.edu	37	12	51584284	51584284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:51584284C>T	ENST00000389243.4	-	11	1591	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	POU6F1_ENST00000550824.1_Missense_Mutation_p.E218K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E218K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	218					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGCTGGCCTTCCTGGTTCCGC	0.572000													49	91					0	0	0.003610	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377779	125377779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:125377779C>T	ENST00000297913.2	+	1	832	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTATGGCACCCTCAGTTGGGT	0.557000													25	42					0	0	0.001786	0	0
CACNA1C	775	broad.mit.edu	37	12	2224674	2224674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:2224674C>T	ENST00000399655.1	+	2	599	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	CACNA1C_ENST00000399595.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P112S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P112S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P112S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P112S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P112S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P112S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P112S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	112					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTGAAGAACCCCATCCGGAG	0.637000													8	31					0	0	0.006214	0	0
COL4A1	1282	broad.mit.edu	37	13	110838746	110838746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:110838746G>A	ENST00000375820.4	-	26	2004	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	628	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)			CAGGCCTGGGGATCCAGGGCC	0.622000													44	90					0	0	0.003610	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786753	19786753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:19786753G>A	ENST00000341998.2	-	1	173	c.112C>T	c.(112-114)Cga>Tga	p.R38*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R38*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	38					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTAAGACTCGAATTAACTTC	0.443000													33	35					0	0	0.002445	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526076	176526076	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:176526076G>A	ENST00000367662.3	+	2	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_ENST00000367661.3_Silent_p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	206					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGGCGGGCGGAAGATGGGC	0.567000													31	60					0	0	0.002445	0	0
MS4A2	2206	broad.mit.edu	37	11	59861437	59861437	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59861437G>A	ENST00000278888.3	+	6	640	c.537_splice	c.e6-1	p.E180_splice		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	180					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTTCAATAGGAAATTGTAGT	0.413000													7	23					0	0	0.004482	0	0
NMS	129521	broad.mit.edu	37	2	101086967	101086967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:101086967C>T	ENST00000376865.1	+	1	24	c.17C>T	c.(16-18)cCc>cTc	p.P6L		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	6			P -> S (in dbSNP:rs13411940).		neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CATCTTCGTCCCCAGTTCCCT	0.547000													30	74					0	0	0.001786	0	0
KLK9	284366	broad.mit.edu	37	19	51512788	51512788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:51512788G>A	ENST00000376832.4	-	1	49	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	KLK9_ENST00000594211.1_Missense_Mutation_p.L6F|KLK9_ENST00000250366.6_Missense_Mutation_p.L6F|CTB-147C22.9_ENST00000594512.1_RNA	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	6					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AGAGCACAGAGGAGTCCCAGC	0.607000													14	14					0	0	0.002450	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948008	119948008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:119948008C>T	ENST00000307142.4	+	3	680	c.484C>T	c.(484-486)Ccg>Tcg	p.P162S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P162S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P162S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	162						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGAAACAGGCCCGAGCTACCA	0.552000													8	16					0	0	0.003080	0	0
HOXB2	3212	broad.mit.edu	37	17	46620505	46620505	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:46620505G>A	ENST00000330070.4	-	2	2163	c.996C>T	c.(994-996)agC>agT	p.S332S	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	332					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						AAGGGACCGGGCTGTCGAGAG	0.567000													36	83					0	0	0.006230	0	0
KCNG4	93107	broad.mit.edu	37	16	84270723	84270723	+	Silent	SNP	G	G	A	rs144555438		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:84270723G>A	ENST00000568181.1	-	2	489	c.369C>T	c.(367-369)atC>atT	p.I123I	KCNG4_ENST00000308251.4_Silent_p.I123I			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	123						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGAAGCTCACGATCACCCCGA	0.632000													8	28					0	0	0.006214	0	0
FRY	10129	broad.mit.edu	37	13	32776495	32776495	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:32776495C>T	ENST00000380250.3	+	31	4345	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTTATAGATCCTTGAAGCAA	0.388000													14	39					0	0	0.001855	0	0
TPO	7173	broad.mit.edu	37	2	1418268	1418268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:1418268C>T	ENST00000345913.4	+	2	179	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	TPO_ENST00000382269.3_Missense_Mutation_p.L30F|TPO_ENST00000349624.3_Missense_Mutation_p.L30F|TPO_ENST00000346956.3_Missense_Mutation_p.L30F|TPO_ENST00000382201.3_Missense_Mutation_p.L30F|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.L30F|TPO_ENST00000382198.1_Missense_Mutation_p.L30F|TPO_ENST00000329066.4_Missense_Mutation_p.L30F|TPO_ENST00000539820.1_Missense_Mutation_p.L30F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	30					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)	GAAAGAACTCCTTTGGGGTAA	0.458000													10	13					0	0	0.001855	0	0
LOC440040	440040	broad.mit.edu	37	11	49831499	49831499	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:49831499C>T	ENST00000527477.1	+	0	1724																											ATTGGGCTTTCGGTGTTTGTA	0.448000													10	7					0	0	0.000673	0	0
EPB41	2035	broad.mit.edu	37	1	29314203	29314203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:29314203C>T	ENST00000343067.4	+	2	381	c.254C>T	c.(253-255)tCg>tTg	p.S85L	EPB41_ENST00000398863.2_Missense_Mutation_p.S85L|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S85L|EPB41_ENST00000373797.1_Missense_Mutation_p.S85L|EPB41_ENST00000356093.2_Missense_Mutation_p.S85L|EPB41_ENST00000373798.1_Missense_Mutation_p.S85L|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	85					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CTATTCTCCTCGTTTCTCAAA	0.433000													34	58					0	0	0.003755	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453655	84453655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:84453655G>A	ENST00000377084.2	-	1	2873	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	663						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTGTAGGGAATTAATCTC	0.557000													13	18					0	0	0.001855	0	0
DOCK3	1795	broad.mit.edu	37	3	51418527	51418527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:51418527G>A	ENST00000266037.9	+	53	5653	c.5630G>A	c.(5629-5631)gGt>gAt	p.G1877D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1877						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCCAGTCAGGTCTGGACGGC	0.617000													19	30					0	0	0.003330	0	0
NPAP1	23742	broad.mit.edu	37	15	24921244	24921244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:24921244C>T	ENST00000329468.2	+	1	704	c.230C>T	c.(229-231)gCt>gTt	p.A77V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCCCTCGGGCTGCGGCCGCC	0.706000													12	21					0	0	0.001368	0	0
ECM2	1842	broad.mit.edu	37	9	95285032	95285032	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:95285032C>T	ENST00000344604.5	-	2	266	c.117G>A	c.(115-117)agG>agA	p.R39R	ECM2_ENST00000375540.1_Silent_p.R39R|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R39R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	39					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTGAACTTTTCCTCAACCTTC	0.363000													37	50					0	0	0.006999	0	0
SENP1	29843	broad.mit.edu	37	12	48483073	48483073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:48483073G>A	ENST00000339976.6	-	5	702	c.320C>T	c.(319-321)cCa>cTa	p.P107L	SENP1_ENST00000004980.5_Intron|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	0	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TCCCAGGCCTGGGCCTGAAAG	0.473000													6	15					0	0	0.001168	0	0
SAMD12	401474	broad.mit.edu	37	8	119391936	119391936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:119391936C>T	ENST00000409003.4	-	4	454	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	SAMD12_ENST00000314727.4_Missense_Mutation_p.R109Q|AC023590.1_ENST00000430457.1_Intron	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	109	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CAGCAGGGCTCGCCCTGCAGG	0.478000													23	43					0	0	0.006320	0	0
CRB1	23418	broad.mit.edu	37	1	197390611	197390611	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197390611G>A	ENST00000367400.3	+	6	1788	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	CRB1_ENST00000543483.1_Silent_p.Q250Q|CRB1_ENST00000538660.1_Silent_p.Q551Q|CRB1_ENST00000544212.1_Silent_p.Q32Q|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.Q482Q|CRB1_ENST00000367399.2_Silent_p.Q439Q	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	551	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCAATAATCAGTCAAAGGTGC	0.458000													29	63					0	0	0.001786	0	0
POU2F3	25833	broad.mit.edu	37	11	120187960	120187960	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:120187960G>A	ENST00000260264.4	+	12	1198	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	POU2F3_ENST00000543440.2_Silent_p.G386G	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	386	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCCCCTGGGAACAACAGCA	0.547000													16	27					0	0	0.006122	0	0
PTX4	390667	broad.mit.edu	37	16	1537417	1537417	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:1537417C>T	ENST00000447419.2	-	2	721	c.696G>A	c.(694-696)ggG>ggA	p.G232G	PTX4_ENST00000293922.1_Silent_p.G227G|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	232						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCTCCCGCCTCCCTTGGAGAG	0.682000													11	18					0	0	0.001855	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150620962	150620962	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:150620962G>A	ENST00000271732.3	-	5	737	c.693C>T	c.(691-693)tcC>tcT	p.S231S	GOLPH3L_ENST00000540514.1_Silent_p.S187S	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	231						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCACATCAGAGGAGTGGGCTA	0.478000													28	56					0	0	0.002836	0	0
TKTL2	84076	broad.mit.edu	37	4	164393683	164393683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:164393683C>T	ENST00000280605.3	-	1	1364	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	402						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGAGCTGATCGAATGCTCTA	0.488000													12	21					0	0	0.000978	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378972	204378972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:204378972G>A	ENST00000367188.4	-	1	1947	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	523					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AGACTGGGAGGAATTCTCTAG	0.478000													13	23					0	0	0.004007	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921316	12921316	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:12921316C>T	ENST00000240189.2	+	4	1194	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	369										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)		TCAGTGCCATCCTGCCTGGCC	0.562000													38	64					0	0	0.003755	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879294	3879294	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:3879294A>C	ENST00000315677.3	-	4	1370	c.775T>G	c.(775-777)Tgc>Ggc	p.C259G	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.C259G|DLGAP1_ENST00000584874.1_Missense_Mutation_p.C259G|DLGAP1_ENST00000581527.1_Missense_Mutation_p.C259G	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	259					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGTGGAGCACTTGACGTCG	0.662000													13	35					0	0	0.002450	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482336	140482336	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140482336C>T	ENST00000231130.2	+	1	2103	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		701					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)			CTTCGCTCTTCCTCTTTTCGG	0.697000													56	36					0	0	0.003610	0	0
FAM115C	285966	broad.mit.edu	37	7	143421595	143421595	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143421595C>T	ENST00000441159.2	+	7	2376	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	FAM115C_ENST00000444908.2_Silent_p.F770F|FAM115C_ENST00000357344.4_Silent_p.F770F|FAM115C_ENST00000411497.2_Silent_p.F489F|FAM115C_ENST00000409703.3_Silent_p.F666F|FAM115C_ENST00000425618.2_Silent_p.F489F|FAM115C_ENST00000411935.1_Silent_p.F666F			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	770										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GATGGGAGTTCCCCCCACACA	0.592000													5	16					0	0	0.001984	0	0
GIPC1	10755	broad.mit.edu	37	19	14591154	14591154	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:14591154G>A	ENST00000393033.4	-	6	887	c.618C>T	c.(616-618)acC>acT	p.T206T	GIPC1_ENST00000586027.1_Silent_p.T206T|GIPC1_ENST00000393028.1_Silent_p.T109T|GIPC1_ENST00000393029.3_Silent_p.T109T|GIPC1_ENST00000345425.2_Silent_p.T206T|GIPC1_ENST00000591349.1_Silent_p.T109T	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	206	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCAGCGTGAAGGTACGGCCTC	0.701000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	43					0	0	0.002450	0	0
TTLL5	23093	broad.mit.edu	37	14	76156614	76156614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:76156614C>T	ENST00000298832.9	+	6	656	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	TTLL5_ENST00000557636.1_Missense_Mutation_p.H151Y|TTLL5_ENST00000286650.5_Missense_Mutation_p.H151Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	151	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAGGCTTTTCACATCCTCCC	0.463000													8	15					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179395008	179395008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179395008C>T	ENST00000589042.1	-	358	106558	c.106334G>A	c.(106333-106335)gGa>gAa	p.G35445E	TTN_ENST00000342175.6_Missense_Mutation_p.G26572E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32877E|TTN_ENST00000359218.5_Missense_Mutation_p.G26505E|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26380E|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33804E|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33804							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)			CCGGGGTTCTCCAGTAGCCTT	0.383000													32	84					0	0	0.003755	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881509	111881509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:111881509C>T	ENST00000393256.3	+	2	460	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P63S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	63					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCCTCAGGGCCCGCTGGCCCC	0.612000													11	23					0	0	0.000673	0	0
C5AR2	27202	broad.mit.edu	37	19	47844877	47844877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47844877C>T	ENST00000595464.1	+	2	1039	c.821C>T	c.(820-822)cCc>cTc	p.P274L	C5AR2_ENST00000257267.2_Missense_Mutation_p.P274L|C5AR2_ENST00000600626.1_Missense_Mutation_p.P274L	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		CGGGCTGAACCCCTCATCGTG	0.647000													13	29					0	0	0.001855	0	0
POLR3A	11128	broad.mit.edu	37	10	79785850	79785850	+	Splice_Site	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:79785850A>C	ENST00000372371.3	-	2	318		c.e2+1			NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa						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)			AGGGGGCCTTACCATCCTATG	0.537000													17	40					0	0	0.001882	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678478	3678478	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:3678478T>G	ENST00000344754.4	-	8	2088	c.2089A>C	c.(2089-2091)Aac>Cac	p.N697H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.N697H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	697	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGGAGGCGTTGCCCAGGGCA	0.617000													10	24					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179416693	179416693	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179416693C>A	ENST00000589042.1	-	335	91158	c.90934G>T	c.(90934-90936)Gtc>Ttc	p.V30312F	TTN_ENST00000342175.6_Missense_Mutation_p.V21439F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V27744F|TTN_ENST00000359218.5_Missense_Mutation_p.V21372F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21247F|TTN_ENST00000591111.1_Missense_Mutation_p.V28671F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28671	Fibronectin type-III 121.						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)			ATGCTTGAGACAAGTGGTTGG	0.438000													33	62					4.65686e-17	6.12392e-17	0.003755	1	0
CUEDC2	79004	broad.mit.edu	37	10	104183554	104183554	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104183554C>T	ENST00000369937.4	-	7	802		c.e7+1		CUEDC2_ENST00000465409.1_Splice_Site	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2							cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		cccagACTCACTTCTGCAGGA	0.612000													17	21					0	0	0.004007	0	0
SCN7A	6332	broad.mit.edu	37	2	167328867	167328867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:167328867C>T	ENST00000409855.1	-	5	658	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	178					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTCCATGGATCACCGAGGAAG	0.353000													8	12					0	0	0.003080	0	0
SPATA18	132671	broad.mit.edu	37	4	52946055	52946055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:52946055G>A	ENST00000295213.4	+	9	1699	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	SPATA18_ENST00000419395.2_Missense_Mutation_p.G410E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	442					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTGCATATGGAGCAGATGGA	0.418000													48	88					0	0	0.003610	0	0
TGM3	7053	broad.mit.edu	37	20	2312718	2312718	+	Silent	SNP	G	G	A	rs45594433	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:2312718G>A	ENST00000381458.5	+	10	1467	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	468		Cleavage; by CTSL.			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|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)	CATTTGCCGCGACGTCTTCAA	0.522000													13	23					0	0	0.001855	0	0
AFP	174	broad.mit.edu	37	4	74310740	74310740	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:74310740C>T	ENST00000395792.2	+	7	844	c.744C>T	c.(742-744)acC>acT	p.T248T	AFP_ENST00000226359.2_Silent_p.T248T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	248	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAGTTTACCAAAGTTAATT	0.358000									Alpha-Fetoprotein, Hereditary Persistence of				11	14					0	0	0.000978	0	0
FBN3	84467	broad.mit.edu	37	19	8175966	8175966	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8175966T>G	ENST00000600128.1	-	33	4600	c.4186A>C	c.(4186-4188)Acc>Ccc	p.T1396P	FBN3_ENST00000601739.1_Missense_Mutation_p.T1396P|FBN3_ENST00000270509.2_Missense_Mutation_p.T1396P			Q75N90	FBN3_HUMAN	fibrillin 3	1396	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTCCTCGGTGGGGTCAAAG	0.657000													5	7					0	0	0.000602	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789427	117789427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:117789427G>A	ENST00000528626.1	-	2	221	c.148C>T	c.(148-150)Cct>Tct	p.P50S	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P50S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P50S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P50S|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P50S	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	50	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CGGCCCGGAGGTGTCCCAGCT	0.682000													11	14					0	0	0.000673	0	0
HECW2	57520	broad.mit.edu	37	2	197297971	197297971	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:197297971G>A	ENST00000260983.2	-	2	359	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	59					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			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						CAGTTAAGCTGGAGCGGCTCT	0.572000													15	38					0	0	0.006122	0	0
MYO1H	283446	broad.mit.edu	37	12	109862586	109862586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109862586G>A	ENST00000310903.5	+	17	1736	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	MYO1H_ENST00000431443.2_Missense_Mutation_p.E554K			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TATCCTGAGGGAATGCTTCCT	0.502000													9	23					0	0	0.000978	0	0
RFT1	91869	broad.mit.edu	37	3	53133502	53133502	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:53133502C>T	ENST00000296292.3	-	11	1164	c.1102_splice	c.e11-1	p.G368_splice	RFT1_ENST00000394738.3_Splice_Site_p.G329_splice	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	368					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAAAACAGGACCTACAAGGAA	0.498000													7	18					0	0	0.001984	0	0
NIN	51199	broad.mit.edu	37	14	51224663	51224663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:51224663G>A	ENST00000245441.5	-	18	3275	c.3085C>T	c.(3085-3087)Ctc>Ttc	p.L1029F	NIN_ENST00000324330.9_Missense_Mutation_p.L1029F|NIN_ENST00000453196.1_Missense_Mutation_p.L1029F|NIN_ENST00000382041.3_Missense_Mutation_p.L1029F|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.L1029F	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1029					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCATTGAGAGAGGAGATGTT	0.517000			T	PDGFRB	MPD								89	61					0	0	0.003610	0	0
KDM2A	22992	broad.mit.edu	37	11	67012770	67012770	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:67012770C>T	ENST00000529006.2	+	14	2120	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	KDM2A_ENST00000398645.2_Silent_p.S558S|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.S16S|KDM2A_ENST00000530342.1_Silent_p.S119S	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTGCTGCCTCCCCGATTGTGT	0.557000													31	45					0	0	0.001786	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564765	100564765	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:100564765C>T	ENST00000397112.4	-	0	548					NR_036632.1															large_intestine(1)|lung(3)	4						TCTTTCTTTTCCTATAGGAAG	0.512000													26	39					0	0	0.001512	0	0
TTC3	7267	broad.mit.edu	37	21	38516888	38516888	+	Silent	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:38516888G>C	ENST00000399017.2	+	21	4583	c.1836G>C	c.(1834-1836)gtG>gtC	p.V612V	TTC3_ENST00000355666.1_Silent_p.V612V|TTC3_ENST00000354749.2_Silent_p.V612V|TTC3_ENST00000540756.1_Silent_p.V302V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	612					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCCTGGAGTGTTAACTTGGC	0.343000													19	43					0	0	0.007413	0	0
HACL1	26061	broad.mit.edu	37	3	15604946	15604946	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:15604946G>A	ENST00000321169.5	-	16	1990	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	HACL1_ENST00000435217.2_Silent_p.S300S|HACL1_ENST00000451445.2_Silent_p.S459S|HACL1_ENST00000456194.2_Silent_p.S514S|HACL1_ENST00000457447.2_Silent_p.S481S	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	541					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCTGCCTCAGGGATTTTTGGA	0.443000													13	12					0	0	0.001855	0	0
F13B	2165	broad.mit.edu	37	1	197032154	197032154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197032154C>T	ENST00000367412.1	-	2	141	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	33	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGCAATTCTTCCATTTTCCAC	0.318000													61	106					0	0	0.003610	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346122	11346122	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11346122C>T	ENST00000376810.5	+	2	1277	c.951C>T	c.(949-951)ctC>ctT	p.L317L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	317					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTCAACCTCCTGCTGGGAC	0.547000													18	34					0	0	0.006122	0	0
PALD1	27143	broad.mit.edu	37	10	72298880	72298880	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:72298880C>T	ENST00000263563.6	+	14	1870	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		ACCTGACGGACGCCAAGAGGA	0.697000													9	11					0	0	0.004482	0	0
MROH9	80133	broad.mit.edu	37	1	170955851	170955851	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:170955851G>A	ENST00000367759.4	+	10	1033	c.879_splice	c.e10+1	p.M293_splice	MROH9_ENST00000367758.3_Splice_Site_p.M293_splice	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		AGGTCACCATGGTAAGATACT	0.393000													16	31					0	0	0.007413	0	0
PTX4	390667	broad.mit.edu	37	16	1537418	1537418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:1537418C>T	ENST00000447419.2	-	2	720	c.695G>A	c.(694-696)gGg>gAg	p.G232E	PTX4_ENST00000293922.1_Missense_Mutation_p.G227E|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	232						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCCCGCCTCCCTTGGAGAGG	0.687000													11	18					0	0	0.001855	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337352	13337352	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:13337352T>C	ENST00000380622.2	-	1	1166	c.702A>G	c.(700-702)gaA>gaG	p.E234E	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	234					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGCGGCTTAGTTCAAGGGCCC	0.423000													123	51					0	0	0.003610	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751234	19751234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:19751234C>T	ENST00000400113.3	-	4	993	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	297					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTGGCTGGCTCGAAGCAGGCA	0.607000													32	63					0	0	0.004289	0	0
TENM3	55714	broad.mit.edu	37	4	183694726	183694726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:183694726C>T	ENST00000511685.1	+	23	5117	c.4994C>T	c.(4993-4995)tCa>tTa	p.S1665L	TENM3_ENST00000406950.2_Missense_Mutation_p.S1665L|RP11-18D7.2_ENST00000513255.1_RNA					teneurin transmembrane protein 3																		GACATTGAGTCATCTAGCCGA	0.438000													27	64					0	0	0.006320	0	0
ABCA8	10351	broad.mit.edu	37	17	66871529	66871529	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:66871529G>A	ENST00000269080.2	-	35	4520	c.4383C>T	c.(4381-4383)tcC>tcT	p.S1461S	ABCA8_ENST00000586539.1_Silent_p.S1501S|ABCA8_ENST00000430352.2_Silent_p.S1501S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1461	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTGTTGGATGGAACCGATAC	0.443000													11	36					0	0	0.000978	0	0
PRNP	5621	broad.mit.edu	37	20	4680141	4680141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:4680141G>A	ENST00000379440.4	+	2	562	c.275G>A	c.(274-276)gGa>gAa	p.G92E	PRNP_ENST00000430350.2_Missense_Mutation_p.G92E	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	92	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGGGTCAAGGAGGTGGCACC	0.642000													13	18					0	0	0.001368	0	0
SCN4A	6329	broad.mit.edu	37	17	62050038	62050038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:62050038C>T	ENST00000578147.1	-	1	240	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	SCN4A_ENST00000435607.1_Missense_Mutation_p.R55Q			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	55					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAAGTCACTTCGTGGCTTCCG	0.627000													11	10					0	0	0.001368	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754002	140754002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140754002C>T	ENST00000517434.1	+	1	352	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCTTTATCCCGTGGAAGT	0.483000													22	17					0	0	0.002299	0	0
NLRP11	204801	broad.mit.edu	37	19	56321022	56321022	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56321022C>T	ENST00000443188.1	-	5	1664	c.954G>A	c.(952-954)agG>agA	p.R318R	NLRP11_ENST00000589824.2_Silent_p.R318R|NLRP11_ENST00000589093.1_Silent_p.R318R|NLRP11_ENST00000592953.1_Silent_p.R219R|NLRP11_ENST00000360133.3_Silent_p.R318R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	318	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGCCGACGCCCTCTGGCGGT	0.498000													9	13					0	0	0.004482	0	0
TENM3	55714	broad.mit.edu	37	4	183601743	183601743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:183601743C>T	ENST00000511685.1	+	10	1810	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	TENM3_ENST00000406950.2_Missense_Mutation_p.R563C|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CTCCAAGGGCCGCTGCCTGTG	0.557000													17	42					0	0	0.001523	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	C	T	rs150927973		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:120337285C>T	ENST00000354219.1	-	7	872	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_ENST00000256585.5_Missense_Mutation_p.E145K|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	145	C-type lectin.					extracellular region	sugar binding	p.E145K(2)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000													566	269					0	0	0.003610	0	0
KCNA2	3737	broad.mit.edu	37	1	111147292	111147292	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:111147292T>C	ENST00000485317.1	-	3	786	c.113A>G	c.(112-114)aAc>aGc	p.N38S	KCNA2_ENST00000369770.3_Missense_Mutation_p.N38S|KCNA2_ENST00000316361.4_Missense_Mutation_p.N38S|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.N38S			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	38						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCCTGAGATGTTGATCACCAC	0.582000													103	68					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13807809	13807809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:13807809C>T	ENST00000265104.4	-	47	7882	c.7778G>A	c.(7777-7779)gGa>gAa	p.G2593E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2593	AAA 3 (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)					TTTGGCTGTTCCTTGTTCACC	0.348000									Kartagener syndrome				5	5					0	0	0.003080	0	0
DRGX	644168	broad.mit.edu	37	10	50574372	50574372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:50574372G>A	ENST00000374139.2	-	6	591	c.581C>T	c.(580-582)cCc>cTc	p.P194L	DRGX_ENST00000434016.1_Missense_Mutation_p.P199L			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	199					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCCATAGGTGGGAAGGAAGGA	0.607000													25	35					0	0	0.004656	0	0
DENND1A	57706	broad.mit.edu	37	9	126554907	126554907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:126554907G>A	ENST00000373624.2	-	3	292	c.91C>T	c.(91-93)Cct>Tct	p.P31S	DENND1A_ENST00000394215.2_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.P31S|DENND1A_ENST00000373618.1_Silent_p.I15I|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	31	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCACCTCAGGATCTGTAAAT	0.378000													9	30					0	0	0.000673	0	0
BPTF	2186	broad.mit.edu	37	17	65972017	65972017	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:65972017G>T	ENST00000321892.4	+	29	9108	c.9047G>T	c.(9046-9048)tGt>tTt	p.C3016F	BPTF_ENST00000424123.3_Missense_Mutation_p.C2734F|BPTF_ENST00000335221.5_Missense_Mutation_p.C2873F|BPTF_ENST00000306378.6_Missense_Mutation_p.C2890F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3016					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTACCAGTGTGCAGAAGTT	0.383000													37	36					4.67007e-22	6.14972e-22	0.001951	1	0
MUC16	94025	broad.mit.edu	37	19	9090179	9090179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9090179C>T	ENST00000397910.4	-	1	1839	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	546	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						GGGGGTCTCTCTGTTTTCATG	0.527000													13	22					0	0	0.001855	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221261	118221261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:118221261G>A	ENST00000402510.2	-	11	3931	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1311										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGAAACAGGGGAGACTTTTTG	0.493000													59	34					0	0	0.003610	0	0
CHN1	1123	broad.mit.edu	37	2	175779842	175779842	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:175779842C>T	ENST00000409900.3	-	5	517	c.204G>A	c.(202-204)ggG>ggA	p.G68G	CHN1_ENST00000409156.3_Silent_p.G68G|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	68	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGAGGTAGCTCCCCTCAGCCA	0.473000			T	TAF15	extraskeletal myxoid chondrosarcoma								8	14					0	0	0.000978	0	0
EPN2	22905	broad.mit.edu	37	17	19237303	19237303	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:19237303C>T	ENST00000314728.5	+	11	2146	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	EPN2_ENST00000575595.1_Silent_p.F262F|EPN2_ENST00000395620.2_Silent_p.F497F|EPN2_ENST00000571254.1_Silent_p.F490F|EPN2_ENST00000395618.3_Silent_p.F269F|EPN2_ENST00000347697.2_Silent_p.F497F|EPN2_ENST00000395626.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	554	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				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)					TTAACCCTTTCCAGGTGAACC	0.652000													8	9					0	0	0.003080	0	0
ELL	8178	broad.mit.edu	37	19	18556038	18556038	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:18556038T>C	ENST00000262809.4	-	11	1816	c.1745A>G	c.(1744-1746)aAa>aGa	p.K582R		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	582					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		ACTCACCTTTTTGATTTTTCG	0.517000			T	MLL	AL								76	53					0	0	0.003610	0	0
MICALL1	85377	broad.mit.edu	37	22	38313756	38313756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:38313756C>T	ENST00000215957.6	+	4	506	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	127						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCCTGTTCCCCGCCGTCTGTA	0.617000													10	39					0	0	0.000978	0	0
MYO3A	53904	broad.mit.edu	37	10	26482238	26482238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:26482238C>T	ENST00000265944.5	+	32	4709	c.4543C>T	c.(4543-4545)Cat>Tat	p.H1515Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1515					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|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						TTATCTACTTCATGTAAGTGG	0.443000													5	8					0	0	0.000602	0	0
MACC1	346389	broad.mit.edu	37	7	20199458	20199458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:20199458C>T	ENST00000400331.5	-	5	834	c.526G>A	c.(526-528)Gag>Aag	p.E176K	MACC1_ENST00000332878.4_Missense_Mutation_p.E176K|MACC1_ENST00000589011.1_Missense_Mutation_p.E176K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	176					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTATAAGCCTCCCGATCATTT	0.468000													18	41					0	0	0.007413	0	0
PRDM16	63976	broad.mit.edu	37	1	3334520	3334520	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:3334520C>T	ENST00000378398.3	+	12	2902	c.2820C>T	c.(2818-2820)tcC>tcT	p.S940S	PRDM16_ENST00000378391.2_Silent_p.S940S|PRDM16_ENST00000511072.1_Silent_p.S941S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.S939S|PRDM16_ENST00000441472.2_Silent_p.S939S|PRDM16_ENST00000514189.1_Silent_p.S940S|PRDM16_ENST00000270722.5_Silent_p.S940S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	940	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAACGCTCTCCGACCCCATCC	0.667000			T	EVI1	"""MDS, AML"""								9	15					0	0	0.004482	0	0
GJB1	2705	broad.mit.edu	37	X	70443915	70443915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70443915G>A	ENST00000374022.3	+	2	453	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	GJB1_ENST00000374029.1_Missense_Mutation_p.V120M|GJB1_ENST00000361726.6_Missense_Mutation_p.V120M	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	120			Missing (in CMTX1).|V -> E (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CCTGGAGGAGGTGAAGAGGCA	0.562000													6	1					0	0	0.001984	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342971	16342971	+	RNA	SNP	A	A	G	rs11540320		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:16342971A>G	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA	NR_027667.1																						CTCCCTCTTTAAGATTGCGTA	0.502000													40	44					0	0	0.003610	0	0
PHC3	80012	broad.mit.edu	37	3	169846497	169846497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:169846497G>A	ENST00000494943.1	-	8	1795	c.1727C>T	c.(1726-1728)cCa>cTa	p.P576L	PHC3_ENST00000467570.1_Missense_Mutation_p.P535L|PHC3_ENST00000495893.1_Missense_Mutation_p.P588L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	576	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGTGCTGGTGGTTGCACTTG	0.453000													13	20					0	0	0.001368	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428624	128428624	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:128428624G>A	ENST00000465342.2	+	2	1670	c.513G>A	c.(511-513)ctG>ctA	p.L171L	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.L171L|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	171	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGCTCATCCTGGGGGTTCTAT	0.522000													6	10					0	0	0.001168	0	0
DTNBP1	84062	broad.mit.edu	37	6	15615601	15615601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:15615601C>T	ENST00000338950.5	-	6	490	c.385G>A	c.(385-387)Gag>Aag	p.E129K	DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129K|DTNBP1_ENST00000344537.5_Missense_Mutation_p.E129K	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	129					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGGTTGTTCTCTACCTCCTCA	0.368000									Hermansky-Pudlak syndrome				17	57					0	0	0.007413	0	0
EPHB4	2050	broad.mit.edu	37	7	100416162	100416162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100416162C>T	ENST00000358173.3	-	7	1870	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	EPHB4_ENST00000360620.3_Missense_Mutation_p.E468K|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	468	Fibronectin type-III 2.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TATTTGACCTCGTAGTCCAGC	0.642000													5	15					0	0	0.001168	0	0
KCNK1	3775	broad.mit.edu	37	1	233802523	233802523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:233802523G>A	ENST00000366621.3	+	2	706	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A64T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	180						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)	GCAGGTGGTGGCCATCGTCCA	0.607000													19	16					0	0	0.001882	0	0
RBBP6	5930	broad.mit.edu	37	16	24580361	24580361	+	Missense_Mutation	SNP	C	C	T	rs146591085	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:24580361C>T	ENST00000319715.4	+	17	2782	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.R750C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCCTAATAAACGTAATGTACC	0.413000													9	17					0	0	0.000978	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654159	8654159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8654159C>T	ENST00000270328.4	-	17	2391	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E709K|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E196K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	709	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AAGACGCCCTCGATGGTCTCG	0.672000													13	15					0	0	0.002450	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073628	73073628	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73073628G>A	ENST00000263674.3	+	14	5195	c.4845G>A	c.(4843-4845)tcG>tcA	p.S1615S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTGCAGGCTCGGGCTTGGAGA	0.706000													7	18					0	0	0.003080	0	0
WDR93	56964	broad.mit.edu	37	15	90246397	90246397	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:90246397T>C	ENST00000558000.1	+	3	574	c.520T>C	c.(520-522)Tag>Cag	p.*174Q	WDR93_ENST00000268130.7_Intron|WDR93_ENST00000560294.1_Intron			Q6P2C0	WDR93_HUMAN	WD repeat domain 93	0					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTTCCTTTTTAGCCTCATTT	0.428000													33	53					0	0	0.001786	0	0
MCTP1	79772	broad.mit.edu	37	5	94230531	94230531	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:94230531G>A	ENST00000515393.1	-	11	1661	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	MCTP1_ENST00000429576.2_Silent_p.V287V|MCTP1_ENST00000505208.1_Silent_p.V333V|MCTP1_ENST00000505078.1_Silent_p.V70V|MCTP1_ENST00000312216.8_Silent_p.V333V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	554					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTGACAGGTCGACCTGGCACC	0.468000													12	5					0	0	0.001368	0	0
SPAG17	200162	broad.mit.edu	37	1	118558676	118558676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:118558676C>T	ENST00000336338.5	-	29	4264	c.4199G>A	c.(4198-4200)gGa>gAa	p.G1400E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1400						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCCGATTTCCTTCAGGTGT	0.478000													85	37					0	0	0.003610	0	0
ANAPC4	29945	broad.mit.edu	37	4	25398357	25398357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:25398357C>T	ENST00000315368.3	+	15	1275	c.1133C>T	c.(1132-1134)cCt>cTt	p.P378L	ANAPC4_ENST00000510092.1_Missense_Mutation_p.P378L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	378					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AAATATGAACCTCTTGGACTA	0.333000													14	34					0	0	0.001855	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360946	64360946	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:64360946C>T	ENST00000377574.1	+	3	1323	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	192					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.F192F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CAGCTGCCTTCGCCCCTGCCT	0.612000													20	26					0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9070177	9070177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9070177C>T	ENST00000397910.4	-	3	17472	c.17269G>A	c.(17269-17271)Gat>Aat	p.D5757N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5759	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						ACACTTGTATCCCCCATGGCG	0.468000													34	55					0	0	0.001951	0	0
SYNJ1	8867	broad.mit.edu	37	21	34030093	34030093	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:34030093C>G	ENST00000382499.2	-	19	2510	c.2511G>C	c.(2509-2511)aaG>aaC	p.K837N	SYNJ1_ENST00000357345.3_Missense_Mutation_p.K798N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.K837N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.K798N|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.K793N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	798	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGTGCGGCACTTTTCACTGG	0.413000													9	39					0	0	0.004482	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250862	140250862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140250862C>T	ENST00000398640.2	+	1	2174	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGCAACGCCCACTGAG	0.667000													10	8					0	0	0.006214	0	0
MEFV	4210	broad.mit.edu	37	16	3304686	3304686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:3304686C>T	ENST00000219596.1	-	2	421	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	128					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCGTTCCCCTCGTTCCCCTCG	0.677000													12	18					0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82545811	82545811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82545811G>A	ENST00000423517.2	-	7	11828	c.11491C>T	c.(11491-11493)Cgt>Tgt	p.R3831C	PCLO_ENST00000437081.1_Missense_Mutation_p.R551C|PCLO_ENST00000333891.8_Missense_Mutation_p.R3831C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3831C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTAATCACGATCCTCAGCT	0.473000													24	39					0	0	0.003954	0	0
TDRD6	221400	broad.mit.edu	37	6	46660898	46660898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:46660898C>T	ENST00000544460.1	+	1	5287	c.5033C>T	c.(5032-5034)cCt>cTt	p.P1678L	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1678L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1678					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTGATATCCCTTTAGCAATT	0.303000													11	9					0	0	0.001368	0	0
STEAP1	26872	broad.mit.edu	37	7	89791250	89791250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:89791250C>T	ENST00000297205.2	+	4	820	c.620C>T	c.(619-621)gCc>gTc	p.A207V	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	207	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AAAGAAGATGCCTGGATTGAG	0.393000													10	33					0	0	0.003954	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	51					0	0	0.001168	0	0
SETD1A	9739	broad.mit.edu	37	16	30976009	30976009	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30976009G>T	ENST00000262519.8	+	7	1632	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	316	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACTTCTCTGCATCTTCAGC	0.607000													23	42					5.49717e-05	7.14073e-05	0.003330	1	0
ANGPTL7	10218	broad.mit.edu	37	1	11254941	11254941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11254941C>T	ENST00000376819.3	+	5	1141	c.902C>T	c.(901-903)tCc>tTc	p.S301F	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	301	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		TGCACAGACTCCAACCTCAAT	0.512000													10	24					0	0	0.000673	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50169132C>T	ENST00000246785.3	+	1	310	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000													27	47					0	0	0.004656	0	0
ZNF180	7733	broad.mit.edu	37	19	44983505	44983505	+	Missense_Mutation	SNP	G	G	A	rs138817761		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44983505G>A	ENST00000221327.4	-	4	610	c.329C>T	c.(328-330)tCt>tTt	p.S110F	ZNF180_ENST00000391956.4_Missense_Mutation_p.S85F|ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Silent_p.L119L|ZNF180_ENST00000592529.1_Missense_Mutation_p.S83F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	110	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTACCCCAAGAGACTAGGTC	0.463000													20	48					0	0	0.002780	0	0
KIF26B	55083	broad.mit.edu	37	1	245530263	245530263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:245530263C>T	ENST00000407071.2	+	3	1033	c.593C>T	c.(592-594)gCc>gTc	p.A198V	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	198					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGCAGGAGGCCATCCAGATG	0.627000													7	15					0	0	0.006214	0	0
PLCL1	5334	broad.mit.edu	37	2	198948626	198948626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:198948626C>T	ENST00000428675.1	+	2	783	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R31C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	129	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCAAATTCTCGCATTTACAA	0.453000													8	21					0	0	0.004482	0	0
ACSL1	2180	broad.mit.edu	37	4	185687120	185687120	+	Silent	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:185687120G>T	ENST00000515030.1	-	14	1609	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V	ACSL1_ENST00000513317.1_Silent_p.V428V|ACSL1_ENST00000454703.2_Silent_p.V257V|ACSL1_ENST00000281455.2_Silent_p.V428V|ACSL1_ENST00000504342.1_Silent_p.V428V|ACSL1_ENST00000437665.3_Silent_p.V257V|ACSL1_ENST00000507295.1_Silent_p.V394V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	428					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATCAGCCGGACTCTTCCGC	0.652000													13	31					2.32078e-09	3.02903e-09	0.003163	1	0
MAP3K15	389840	broad.mit.edu	37	X	19380929	19380929	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:19380929C>T	ENST00000338883.4	-	26	3605	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	MAP3K15_ENST00000359173.3_Silent_p.Q637Q|MAP3K15_ENST00000469203.2_Silent_p.Q1034Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1202							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAGAAGATTCTGGTACTCTC	0.328000													26	21					0	0	0.005443	0	0
NLRP8	126205	broad.mit.edu	37	19	56473470	56473470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56473470G>A	ENST00000291971.3	+	4	2151	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D694N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	694						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGTGGCAAGACTTATGCTC	0.483000													29	62					0	0	0.003755	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518910	113518910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:113518910G>A	ENST00000284601.3	-	4	2305	c.2237C>T	c.(2236-2238)gCt>gTt	p.A746V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	746					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTTCTCTAGCAGACATGCT	0.433000													17	48					0	0	0.004007	0	0
GABPB2	126626	broad.mit.edu	37	1	151090593	151090593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:151090593C>T	ENST00000368918.3	+	9	1539	c.1208C>T	c.(1207-1209)aCc>aTc	p.T403I	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.T365I|GABPB2_ENST00000368917.1_Missense_Mutation_p.T365I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	403					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTTGATTTCACCATGGTTGAA	0.522000													21	21					0	0	0.001882	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050284	110050284	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:110050284G>A	ENST00000369864.4	-	2	1600	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	AMIGO1_ENST00000369862.1_Silent_p.S417S			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	417					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TACTAAGCATGGAAGAGCTGA	0.572000													13	20					0	0	0.001368	0	0
NSD1	64324	broad.mit.edu	37	5	176562207	176562207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:176562207G>A	ENST00000439151.2	+	2	148	c.103G>A	c.(103-105)Ggt>Agt	p.G35S	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G35S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	35					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTCGGTAATGGTCAATCCAA	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			32	24					0	0	0.002836	0	0
KALRN	8997	broad.mit.edu	37	3	124385441	124385441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124385441G>A	ENST00000360013.3	+	46	6615	c.6488G>A	c.(6487-6489)gGa>gAa	p.G2163E	KALRN_ENST00000459915.1_Missense_Mutation_p.G255E|KALRN_ENST00000291478.4_Missense_Mutation_p.G466E|KALRN_ENST00000393496.1_Missense_Mutation_p.G504E|KALRN_ENST00000428018.2_Missense_Mutation_p.G434E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2162	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCAGGAAGGGATCCCTCACC	0.532000													21	56					0	0	0.004656	0	0
ICT1	3396	broad.mit.edu	37	17	73015830	73015830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:73015830C>T	ENST00000301585.5	+	3	272	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGTAGTGGTCCTGGGGGGCA	0.438000													18	15					0	0	0.001882	0	0
MGP	4256	broad.mit.edu	37	12	15035186	15035186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:15035186C>T	ENST00000539261.1	-	4	333	c.199G>A	c.(199-201)Gag>Aag	p.E67K	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.E92K	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	67	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	p.E67K(1)		large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CTATTGAGCTCGTGGACAGGC	0.448000													94	70					0	0	0.003610	0	0
PRSS48	345062	broad.mit.edu	37	4	152204439	152204439	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:152204439G>A	ENST00000455694.2	+	4	653		c.e4+1		PRSS48_ENST00000441586.2_Splice_Site|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48						proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TAGTTGCAAGGTCAGGGTTTG	0.408000													12	45					0	0	0.001855	0	0
IKBKAP	8518	broad.mit.edu	37	9	111673345	111673345	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:111673345C>T	ENST00000374647.5	-	12	1612	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	IKBKAP_ENST00000537196.1_Silent_p.K86K	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	435					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGTCATTACTCTTTTGAGGGT	0.443000													25	38					0	0	0.006320	0	0
STK32C	282974	broad.mit.edu	37	10	134021640	134021640	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:134021640C>T	ENST00000368622.1	-	12	1365	c.984G>A	c.(982-984)caG>caA	p.Q328Q	STK32C_ENST00000368625.4_Silent_p.Q458Q			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	445	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCGGGAGGTCCTGGCTCCTCT	0.701000													12	20					0	0	0.002450	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216336	20216336	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20216336G>A	ENST00000331723.1	+	1	750	c.750G>A	c.(748-750)ctG>ctA	p.L250L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTCAGCCTGATCTTCGTGC	0.458000													33	69					0	0	0.006999	0	0
PCED1B	91523	broad.mit.edu	37	12	47629420	47629420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:47629420G>A	ENST00000546455.1	+	4	1305	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E192K					PC-esterase domain containing 1B																		CCTGAAAAACGAAGTGGTCAA	0.582000													8	21					0	0	0.003080	0	0
DOCK2	1794	broad.mit.edu	37	5	169494601	169494601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:169494601G>A	ENST00000256935.8	+	45	4635	c.4555G>A	c.(4555-4557)Gat>Aat	p.D1519N	DOCK2_ENST00000520908.1_Missense_Mutation_p.D1011N|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.D580N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1519	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor 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)			GTACCAGAGTGATGAGACCCT	0.493000													26	14					0	0	0.005443	0	0
LIPI	149998	broad.mit.edu	37	21	15561692	15561692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:15561692G>A	ENST00000344577.2	-	2	183	c.158C>T	c.(157-159)tCc>tTc	p.S53F	LIPI_ENST00000536861.1_Missense_Mutation_p.S32F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	32					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATCTCTGAAGGAATCCTTTAC	0.353000													10	24					0	0	0.000673	0	0
OR2M3	127062	broad.mit.edu	37	1	248366576	248366576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:248366576G>A	ENST00000456743.1	+	1	245	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCCCTCATGGACCTCATGC	0.532000													66	156					0	0	0.003610	0	0
CDH23	64072	broad.mit.edu	37	10	73553142	73553142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:73553142C>T	ENST00000224721.6	+	47	6477	c.6472C>T	c.(6472-6474)Cct>Tct	p.P2158S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2153	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCACCGTTCCTCTCTCGGG	0.597000													17	39					0	0	0.006122	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456094	84456094	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:84456094C>T	ENST00000416219.2	+	8	812	c.723C>T	c.(721-723)acC>acT	p.T241T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.T241T			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	241					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACCTCACCACCCTCAGCAACA	0.612000													22	46					0	0	0.002780	0	0
WDR75	84128	broad.mit.edu	37	2	190323591	190323591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:190323591C>T	ENST00000314761.4	+	7	742	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	228						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGGCAAAATTCGTCTTTGGTC	0.418000													19	40					0	0	0.002299	0	0
MYOM1	8736	broad.mit.edu	37	18	3102527	3102527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:3102527C>T	ENST00000400569.3	-	23	3853	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1078N|MYOM1_ENST00000356443.4_Missense_Mutation_p.D1174N			P52179	MYOM1_HUMAN	myomesin 1	1174	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle	p.D1174Y(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATACATAATCTTTGGACCAG	0.418000													51	94					0	0	0.003610	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919197	135919197	+	Silent	SNP	C	C	T	rs151291681		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:135919197C>T	ENST00000372097.5	+	3	779	c.456C>T	c.(454-456)ctC>ctT	p.L152L	GTF3C5_ENST00000342018.8_Silent_p.L152L|GTF3C5_ENST00000372099.6_Silent_p.L143L|GTF3C5_ENST00000372108.5_Silent_p.L152L|GTF3C5_ENST00000372095.5_Silent_p.L27L|GTF3C5_ENST00000485692.1_3'UTR	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	152						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGCTCATGCTCCGGCCCGAGA	0.587000													18	43					0	0	0.001216	0	0
TRAK1	22906	broad.mit.edu	37	3	42265111	42265111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:42265111G>A	ENST00000327628.5	+	16	3144	c.2744G>A	c.(2743-2745)cGg>cAg	p.R915Q	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R857Q	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	915					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGTGGCATCCGGCGGAATCGC	0.597000													21	21					0	0	0.001216	0	0
UGT8	7368	broad.mit.edu	37	4	115544111	115544111	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:115544111C>T	ENST00000310836.6	+	2	597	c.75C>T	c.(73-75)atC>atT	p.I25I	UGT8_ENST00000394511.3_Silent_p.I25I	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	25					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAATCATCATCGTGCCGCCAA	0.453000													8	21					0	0	0.004482	0	0
HNF1A	6927	broad.mit.edu	37	12	121431395	121431395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:121431395G>A	ENST00000257555.6	+	3	825	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	HNF1A_ENST00000400024.2_Missense_Mutation_p.R200Q|HNF1A_ENST00000541395.1_Missense_Mutation_p.R200Q|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Missense_Mutation_p.R200Q|HNF1A_ENST00000543427.1_Missense_Mutation_p.R83Q|HNF1A_ENST00000544413.1_Missense_Mutation_p.R200Q			P20823	HNF1A_HUMAN	HNF1 homeobox A	200			R -> W (in MODY3; expected to interfere with nuclear localization).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGAAGGGGCGGAGGAACCGT	0.592000									Hepatic Adenoma, Familial Clustering of				103	214					0	0	0.003610	0	0
CTCF	10664	broad.mit.edu	37	16	67650756	67650756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67650756C>T	ENST00000264010.4	+	5	1505	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	CTCF_ENST00000401394.1_Missense_Mutation_p.S26F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	354					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.S354F(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAAGTGTTCCATGTGCGAT	0.453000													57	106					0	0	0.003610	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919774	43919774	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:43919774A>C	ENST00000282406.4	+	4	418	c.308A>C	c.(307-309)cAa>cCa	p.Q103P		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	103						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGTCATTCAAAACTTGGAA	0.338000													74	146					0	0	0.003610	0	0
GEM	2669	broad.mit.edu	37	8	95264276	95264276	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:95264276A>C	ENST00000297596.2	-	4	848	c.584T>G	c.(583-585)tTa>tGa	p.L195*	GEM_ENST00000396194.2_Nonsense_Mutation_p.L195*	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	195					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCACCGCACTAAGTCACTTTT	0.517000													32	16					0	0	0.006999	0	0
CD1B	910	broad.mit.edu	37	1	158299295	158299295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158299295C>T	ENST00000368168.3	-	4	858	c.751G>A	c.(751-753)Ggg>Agg	p.G251R		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	251	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.G251W(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGATGTCCCCTAGCTGAGTG	0.607000													21	42					0	0	0.002780	0	0
ZNF792	126375	broad.mit.edu	37	19	35449162	35449162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35449162G>A	ENST00000404801.1	-	4	1983	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	ZNF792_ENST00000605484.1_Missense_Mutation_p.P466S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACTCATAAGGCCGCTCGCCG	0.522000													12	12					0	0	0.000978	0	0
SYT12	91683	broad.mit.edu	37	11	66813298	66813298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:66813298C>T	ENST00000393946.2	+	10	2204	c.1042C>T	c.(1042-1044)Ccg>Tcg	p.P348S	SYT12_ENST00000527043.1_Missense_Mutation_p.P348S|SYT12_ENST00000525457.1_Missense_Mutation_p.P348S			Q8IV01	SYT12_HUMAN	synaptotagmin XII	348	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGACCCCAACCCGGTGTTCAA	0.612000													18	20					0	0	0.006122	0	0
CLTCL1	8218	broad.mit.edu	37	22	19222165	19222165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:19222165G>A	ENST00000263200.10	-	7	1106	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	CLTCL1_ENST00000427926.1_Missense_Mutation_p.P345L|CLTCL1_ENST00000353891.5_Missense_Mutation_p.P345L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	345	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCAAGGTCTGGATTCTGAAG	0.478000			T	?	ALCL								37	73					0	0	0.006999	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548594	20548594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:20548594C>T	ENST00000329697.6	-	14	1888	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	574					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGCGCACGGGCTTTTCCGGAC	0.463000													64	134					0	0	0.003610	0	0
SLC6A7	6534	broad.mit.edu	37	5	149574312	149574312	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:149574312A>C	ENST00000230671.2	+	2	426	c.55A>C	c.(55-57)Atg>Ctg	p.M19L	SLC6A7_ENST00000524041.1_Missense_Mutation_p.M19L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	19						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGACCTGCTGATGACCCCCAG	0.582000													6	4					0	0	0.001168	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32498788	32498788	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:32498788G>A	ENST00000327300.7	+	4	791		c.e4-1		KHDRBS1_ENST00000492989.1_Splice_Site|KHDRBS1_ENST00000307714.8_Splice_Site	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1						cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTTTCCATAGGAGGAAGAGC	0.458000													16	21					0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152281609	152281609	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152281609A>G	ENST00000368799.1	-	3	5788	c.5753T>C	c.(5752-5754)gTt>gCt	p.V1918A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1918	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)			GTCCTGGCTAACACTGGATCC	0.567000									Ichthyosis				55	125					0	0	0.003610	0	0
TRPM4	54795	broad.mit.edu	37	19	49671637	49671637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49671637C>T	ENST00000252826.5	+	5	695	c.569C>T	c.(568-570)cCc>cTc	p.P190L	TRPM4_ENST00000427978.2_Missense_Mutation_p.P190L|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	190					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTGTGGCCCCCTGGGGTGTG	0.647000													17	41					0	0	0.004990	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969013	47969013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:47969013G>A	ENST00000289672.2	-	7	898	c.848C>T	c.(847-849)gCt>gTt	p.A283V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	283					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAATTTCGAGCTAGGATGGC	0.532000													22	43					0	0	0.002780	0	0
SCARF2	91179	broad.mit.edu	37	22	20780370	20780370	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:20780370G>A	ENST00000405555.3	-	11	1963	c.1893C>T	c.(1891-1893)gcC>gcT	p.A631A	SCARF2_ENST00000266214.5_Silent_p.A636A	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	631				ARVARREARPARA -> PTTTWITHSTAAS (in Ref. 2; AAH00584).	cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			gggccggccgggccTCGCGTC	0.766000													5	7					0	0	0.000602	0	0
NEK10	152110	broad.mit.edu	37	3	27326370	27326370	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:27326370G>A	ENST00000429845.2	-	22	2234	c.1872C>T	c.(1870-1872)caC>caT	p.H624H	NEK10_ENST00000341435.5_Silent_p.H624H|NEK10_ENST00000357467.2_Silent_p.H21H			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	624	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGTAAAATGGTGATGTTTTT	0.323000													20	12					0	0	0.001523	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103465993	103465993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:103465993C>A	ENST00000361246.2	-	5	793	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	169	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCTTGTCTTCAAATTTGCTG	0.453000													18	13					6.49762e-13	8.50953e-13	0.006122	1	0
TRIM55	84675	broad.mit.edu	37	8	67039668	67039668	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:67039668C>T	ENST00000315962.4	+	1	538	c.165C>T	c.(163-165)ttC>ttT	p.F55F	TRIM55_ENST00000353317.5_Silent_p.F55F|TRIM55_ENST00000350034.4_Silent_p.F55F|TRIM55_ENST00000276573.7_Silent_p.F55F	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	55						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTGATATTTTCCAGGTAGGTT	0.438000													42	211					0	0	0.003214	0	0
SCN11A	11280	broad.mit.edu	37	3	38927620	38927620	+	Missense_Mutation	SNP	C	C	T	rs34292484		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:38927620C>T	ENST00000450244.1	-	16	3143	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R982Q|SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000302328.3_Missense_Mutation_p.R982Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	982					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	AATTACCTTTCGGGGATCCTG	0.448000													16	37					0	0	0.001216	0	0
SLC4A5	57835	broad.mit.edu	37	2	74479337	74479337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:74479337C>T	ENST00000394019.2	-	16	1844	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	SLC4A5_ENST00000346834.4_Missense_Mutation_p.E483K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.E419K|SLC4A5_ENST00000423644.1_Missense_Mutation_p.E483K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.E483K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.E483K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.E483K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.E419K|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	483	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCCCCGATTTCATGCATGGCT	0.632000													31	15					0	0	0.002836	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56423937C>T	ENST00000588751.1	-	5	1270	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000													18	30					0	0	0.007413	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527784	65527784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:65527784G>A	ENST00000310193.3	-	4	1029	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	286					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAGCCTAAATGATGTGCTGGG	0.423000													6	30					0	0	0.003080	0	0
SALL4	57167	broad.mit.edu	37	20	50407835	50407835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:50407835G>A	ENST00000217086.4	-	2	1298	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	396					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATCTGCAAGGAGCTATCAGT	0.547000													15	31					0	0	0.004007	0	0
ZBED4	9889	broad.mit.edu	37	22	50278162	50278162	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50278162C>T	ENST00000216268.4	+	2	1329	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	284						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCTGGGTCCAGGAGAAGGT	0.562000													18	50					0	0	0.007413	0	0
POFUT1	23509	broad.mit.edu	37	20	30816216	30816216	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:30816216C>T	ENST00000375749.3	+	5	755	c.693C>T	c.(691-693)gtC>gtT	p.V231V	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Silent_p.V20V	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	231					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCACCTTGTCCGGCCCTATG	0.552000													11	22					0	0	0.000978	0	0
HERC5	51191	broad.mit.edu	37	4	89390350	89390350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:89390350G>A	ENST00000264350.3	+	9	1330	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	HERC5_ENST00000508159.1_Missense_Mutation_p.E31K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	393					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TACTCTGAATGAAGGGACTGT	0.398000													6	13					0	0	0.001984	0	0
CLASP1	23332	broad.mit.edu	37	2	122122776	122122776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:122122776G>A	ENST00000263710.4	-	36	4360	c.3971C>T	c.(3970-3972)gCc>gTc	p.A1324V	CLASP1_ENST00000541859.1_Missense_Mutation_p.A1041V|CLASP1_ENST00000545861.1_Missense_Mutation_p.A1031V|CLASP1_ENST00000455322.2_Missense_Mutation_p.A1280V|CLASP1_ENST00000397587.3_Missense_Mutation_p.A1264V|CLASP1_ENST00000409078.3_Missense_Mutation_p.A1257V|CLASP1_ENST00000541377.1_Missense_Mutation_p.A1263V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1324	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTCCAGCAGGGCTCCCTTCCG	0.572000													6	9					0	0	0.001984	0	0
CLVS2	134829	broad.mit.edu	37	6	123319199	123319199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:123319199G>A	ENST00000275162.4	+	2	1612	c.277G>A	c.(277-279)Gac>Aac	p.D93N	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	93					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TAAGGCCACCGACCCTGGCAT	0.542000													21	23					0	0	0.002780	0	0
HMGCL	3155	broad.mit.edu	37	1	24147083	24147083	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:24147083C>T	ENST00000374490.3	-	2	104	c.60_splice	c.e2-1	p.V21_splice	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Splice_Site_p.V21_splice|HMGCL_ENST00000374483.4_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	21					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GAGGTGCTGACCTTTGGTTTA	0.403000													23	54					0	0	0.003954	0	0
SELO	83642	broad.mit.edu	37	22	50644880	50644880	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50644880T>C	ENST00000380903.2	+	2	747	c.689T>C	c.(688-690)gTg>gCg	p.V230A	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GTGCGCGACGTGTTCTATGAT	0.567000											OREG0026675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	0.003080	0	0
ZNF99	7652	broad.mit.edu	37	19	22941130	22941130	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:22941130A>T	ENST00000397104.3	-	5	1307	c.1308T>A	c.(1306-1308)caT>caA	p.H436Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.H527Q					zinc finger protein 99									p.H436Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAATTATCTTATGTTTTCTAA	0.333000													7	7					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141108405	141108405	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:141108405G>A	ENST00000389484.3	-	77	12824	c.11853C>T	c.(11851-11853)atC>atT	p.I3951I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3951					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCTGCCATGGATCCTTTTGT	0.343000										TSP Lung(27;0.18)			9	28					0	0	0.004482	0	0
MCM5	4174	broad.mit.edu	37	22	35815966	35815966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35815966G>A	ENST00000216122.4	+	14	1947	c.1793G>A	c.(1792-1794)aGg>aAg	p.R598K	MCM5_ENST00000382011.5_Missense_Mutation_p.R555K	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	598				ARQHERDSDRR -> PVSTRGTVTA (in Ref. 3; BAA12176).	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCACGAGAGGGACAGTGAC	0.642000													22	50					0	0	0.001882	0	0
PAPPA	5069	broad.mit.edu	37	9	118982379	118982379	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:118982379C>T	ENST00000328252.3	+	5	2451	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	694					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGGAGTGGTTCCCACCTATAG	0.557000													24	59					0	0	0.003954	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105912848	105912848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:105912848C>T	ENST00000393359.2	-	4	1429	c.1003G>A	c.(1003-1005)Gga>Aga	p.G335R	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G335R			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	335					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCGGGCTCCTTTTGCTAAA	0.388000													20	64					0	0	0.001882	0	0
ABCC2	1244	broad.mit.edu	37	10	101578582	101578582	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:101578582C>T	ENST00000370449.4	+	18	2420	c.2307C>T	c.(2305-2307)atC>atT	p.I769I		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	769	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCAGCGGATCAGCCTGGCCA	0.413000													14	29					0	0	0.004007	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834741	74834741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:74834741C>T	ENST00000370895.1	+	16	1695	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.P554S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P554S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.P453S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.P554S			Q59H18	TNI3K_HUMAN		453	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AGCTGGATTGCCTTCACATTT	0.353000													7	23					0	0	0.003080	0	0
ZNF750	79755	broad.mit.edu	37	17	80788671	80788671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:80788671C>T	ENST00000269394.3	-	3	2352	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.D108N|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	507						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCGGAGCTGTCGTCCGGACTG	0.612000													14	26					0	0	0.004007	0	0
CHST12	55501	broad.mit.edu	37	7	2472882	2472882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2472882C>T	ENST00000258711.6	+	2	743	c.608C>T	c.(607-609)cCg>cTg	p.P203L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	203					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGCGCATCCCGCGCGAGCAC	0.662000													11	10					0	0	0.000673	0	0
MDC1	9656	broad.mit.edu	37	6	30680248	30680248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:30680248G>A	ENST00000376406.3	-	5	2118	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	MDC1_ENST00000376405.2_Missense_Mutation_p.P491S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	491	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCCCCAAAAGGAGGTTGGTCC	0.502000								Other conserved DNA damage response genes					42	39					0	0	0.003214	0	0
NIPBL	25836	broad.mit.edu	37	5	36976077	36976077	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:36976077T>C	ENST00000282516.8	+	9	1567	c.1068T>C	c.(1066-1068)acT>acC	p.T356T	NIPBL_ENST00000448238.2_Silent_p.T356T|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	356					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGACTCTACTAAACTTACAT	0.363000													16	17					0	0	0.006122	0	0
CCDC117	150275	broad.mit.edu	37	22	29182126	29182126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:29182126C>T	ENST00000249064.4	+	5	828	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	CCDC117_ENST00000443309.2_Missense_Mutation_p.L86F|CCDC117_ENST00000421503.2_Missense_Mutation_p.L143F|CCDC117_ENST00000448492.2_Missense_Mutation_p.L200F	NM_173510.2	NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	218										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CCCTGAACTCCTTTCTGATAA	0.433000													24	40					0	0	0.004656	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589197	67589197	+	Silent	SNP	A	A	T	rs149905863		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:67589197A>T	ENST00000521381.1	+	10	1801	c.1185A>T	c.(1183-1185)ccA>ccT	p.P395P	PIK3R1_ENST00000396611.1_Silent_p.P395P|PIK3R1_ENST00000523872.1_Silent_p.P32P|PIK3R1_ENST00000336483.5_Silent_p.P125P|PIK3R1_ENST00000274335.5_Silent_p.P395P|PIK3R1_ENST00000521657.1_Silent_p.P395P|PIK3R1_ENST00000320694.8_Silent_p.P95P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	395	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTCTGACCCATTAACCTTCA	0.318000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			10	8					0	0	0.000673	0	0
NAGLU	4669	broad.mit.edu	37	17	40690485	40690485	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:40690485C>T	ENST00000225927.2	+	3	761	c.660C>T	c.(658-660)atC>atT	p.I220I	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	220						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCACATCAAGCAGCTTT	0.587000													20	52					0	0	0.002780	0	0
ZNF844	284391	broad.mit.edu	37	19	12187067	12187067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:12187067C>T	ENST00000439326.3	+	4	1307	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCTCCCAGTTCGTTTTGAAGA	0.373000													3	4					0	0	0.004672	0	0
NARG2	79664	broad.mit.edu	37	15	60758807	60758807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:60758807G>A	ENST00000261520.4	-	5	748	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	NARG2_ENST00000439632.1_Missense_Mutation_p.R35C|NARG2_ENST00000561114.1_Missense_Mutation_p.R172C	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	172						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GTGAAGAGACGGGCATCATCA	0.368000													18	35					0	0	0.001882	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400739	47400739	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:47400739G>A	ENST00000310638.4	-	6	754	c.723C>T	c.(721-723)acC>acT	p.T241T	CYP4A11_ENST00000371904.4_Silent_p.T241T|CYP4A11_ENST00000371905.1_Silent_p.T241T|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000475477.1_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	241					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGCTGTAGATGGTGTCATTCT	0.537000													26	60					0	0	0.003954	0	0
NAA11	84779	broad.mit.edu	37	4	80246948	80246948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:80246948C>T	ENST00000286794.4	-	1	256	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	28	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AATAGTATTTCATCTGGTAGT	0.493000													19	31					0	0	0.001523	0	0
POU6F2	11281	broad.mit.edu	37	7	39379484	39379484	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:39379484A>G	ENST00000518318.2	+	5	797	c.755A>G	c.(754-756)cAa>cGa	p.Q252R	POU6F2_ENST00000559001.1_Missense_Mutation_p.Q244R|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q252R|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	252	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cagcagcaccaaccccactcc	0.657000													6	11					0	0	0.001984	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174409	72174409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:72174409C>T	ENST00000537465.1	-	6	867	c.709G>A	c.(709-711)Gag>Aag	p.E237K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E92K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E237K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	237										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTGAGTCTCCTGATGCTCT	0.428000													50	133					0	0	0.003610	0	0
AOC1	26	broad.mit.edu	37	7	150554030	150554030	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:150554030G>C	ENST00000493429.1	+	4	1056	c.472G>C	c.(472-474)Gcc>Ccc	p.A158P	AOC1_ENST00000360937.4_Missense_Mutation_p.A158P|AOC1_ENST00000467291.1_Missense_Mutation_p.A158P|AOC1_ENST00000416793.2_Missense_Mutation_p.A158P					amine oxidase, copper containing 1																		CCTGCAGGAAGCCACCAAGCC	0.612000													16	28					0	0	0.004007	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468482	72468482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:72468482G>A	ENST00000373208.1	+	4	818	c.818G>A	c.(817-819)cGc>cAc	p.R273H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGTGGTTCGCTTCCATGGC	0.617000													30	41					0	0	0.004289	0	0
HACL1	26061	broad.mit.edu	37	3	15604947	15604947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:15604947G>A	ENST00000321169.5	-	16	1989	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	HACL1_ENST00000435217.2_Missense_Mutation_p.S300F|HACL1_ENST00000451445.2_Missense_Mutation_p.S459F|HACL1_ENST00000456194.2_Missense_Mutation_p.S514F|HACL1_ENST00000457447.2_Missense_Mutation_p.S481F	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	541					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTGCCTCAGGGATTTTTGGAG	0.443000													13	11					0	0	0.001855	0	0
GPR162	27239	broad.mit.edu	37	12	6933459	6933459	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:6933459A>G	ENST00000311268.3	+	2	1182	c.395A>G	c.(394-396)aAg>aGg	p.K132R	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AACGCCAAGAAGCAGGCACTG	0.622000													12	9					0	0	0.001368	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817237	200817237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:200817237G>A	ENST00000358823.2	+	11	1610	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.G458E|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G431E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	458						cytoplasm|microtubule	protein binding										CCAAACCGAGGAATCACTCGT	0.333000													19	43					0	0	0.006122	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015920	145015920	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:145015920G>A	ENST00000369359.4	-	3	419	c.381C>T	c.(379-381)tcC>tcT	p.S127S	PDE4DIP_ENST00000369348.3_Silent_p.S127S|PDE4DIP_ENST00000313382.9_Silent_p.S56S|PDE4DIP_ENST00000478649.2_Silent_p.S56S|PDE4DIP_ENST00000493130.2_Silent_p.S56S|PDE4DIP_ENST00000530740.1_Silent_p.S127S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTCTCAAGGAATATGTCT	0.453000			T	PDGFRB	MPD								42	499					0	0	0.002222	0	0
CALB1	793	broad.mit.edu	37	8	91072457	91072457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:91072457C>T	ENST00000265431.3	-	11	911	c.730G>A	c.(730-732)Gga>Aga	p.G244R	CALB1_ENST00000518457.1_Missense_Mutation_p.G187R	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	244						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AGCTTCCCTCCATCCGACAAA	0.393000													14	39					0	0	0.003163	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477576	35477576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:35477576G>A	ENST00000357182.4	-	8	1204	c.977C>T	c.(976-978)aCc>aTc	p.T326I	ZMYM6_ENST00000487874.1_Missense_Mutation_p.T326I|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T326I|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	326					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GATTGCTGAGGTTTTACAACT	0.373000													7	31					0	0	0.003080	0	0
KLHL5	51088	broad.mit.edu	37	4	39083653	39083653	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:39083653G>A	ENST00000261425.3	+	5	926	c.774G>A	c.(772-774)caG>caA	p.Q258Q	KLHL5_ENST00000261426.5_Silent_p.Q243Q|KLHL5_ENST00000359687.2_Silent_p.Q304Q|KLHL5_ENST00000508137.2_Silent_p.Q117Q|KLHL5_ENST00000381930.3_Silent_p.Q304Q|KLHL5_ENST00000504108.1_Silent_p.Q304Q	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	304	BTB.					cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGCTTTCACAGGTTGTAGAAG	0.383000													24	44					0	0	0.002299	0	0
AGBL5	60509	broad.mit.edu	37	2	27278857	27278857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:27278857C>T	ENST00000360131.4	+	7	1375	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P406S	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	406					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGATTATGCCACAACAGTC	0.522000													25	83					0	0	0.005443	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501826	31501826	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:31501826G>A	ENST00000330498.3	+	14	2008	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V	C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	663					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGATGGCAGTGGCCGTGTTCC	0.637000													5	13					0	0	0.000602	0	0
TRRAP	8295	broad.mit.edu	37	7	98592251	98592251	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:98592251C>T	ENST00000359863.4	+	66	10256	c.10047C>T	c.(10045-10047)tcC>tcT	p.S3349S	TRRAP_ENST00000355540.3_Silent_p.S3320S|TRRAP_ENST00000446306.3_Silent_p.S3338S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3349					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGTTACTCCGTGGCGTTTG	0.537000													42	88					0	0	0.002852	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455791	30455791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30455791G>A	ENST00000478753.2	-	1	1711	c.1258C>T	c.(1258-1260)Ccg>Tcg	p.P420S	SEPHS2_ENST00000542752.1_Missense_Mutation_p.P363S|SEPHS2_ENST00000500504.2_Missense_Mutation_p.P420S			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	420					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATAACTCGCGGCTTGTCAATG	0.522000													29	28					0	0	0.001512	0	0
C1orf173	127254	broad.mit.edu	37	1	75101972	75101972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:75101972G>A	ENST00000326665.5	-	6	813	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	199										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCCCAATGGGAAACAGAGCT	0.318000													29	42					0	0	0.005443	0	0
UNC13A	23025	broad.mit.edu	37	19	17783268	17783268	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:17783268C>T	ENST00000428389.2	-	5	452	c.453G>A	c.(451-453)gaG>gaA	p.E151E	UNC13A_ENST00000552293.1_Silent_p.E63E|UNC13A_ENST00000551649.1_Silent_p.E63E|UNC13A_ENST00000252773.7_Silent_p.E63E|UNC13A_ENST00000519716.2_Silent_p.E63E|UNC13A_ENST00000550896.1_Silent_p.E63E			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	63					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TATTCCACACCTCCACCGTCA	0.597000													14	8					0	0	0.004007	0	0
KIF9	64147	broad.mit.edu	37	3	47298994	47298994	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:47298994G>A	ENST00000335044.2	-	10	1395	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	KIF9_ENST00000352910.4_Silent_p.I253I|KIF9_ENST00000452770.2_Silent_p.I346I|KIF9_ENST00000444589.2_Silent_p.I346I|KIF9_ENST00000265529.3_Silent_p.I346I|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	346					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACTTTTCATTGATGGCAGGCT	0.507000													30	48					0	0	0.006999	0	0
ARID5A	10865	broad.mit.edu	37	2	97215195	97215195	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:97215195G>A	ENST00000454558.2	+	3	1231	c.55_splice	c.e3+1	p.Q18_splice	ARID5A_ENST00000357485.3_Splice_Site_p.Q86_splice			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	86					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCTTCAAGCAGAGTGCGTCCC	0.677000													14	40					0	0	0.004007	0	0
CES1	1066	broad.mit.edu	37	16	55857493	55857493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:55857493G>A	ENST00000422046.2	-	4	786	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	CES1_ENST00000360526.3_Nonsense_Mutation_p.Q170*|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Nonsense_Mutation_p.Q169*			P23141	EST1_HUMAN	carboxylesterase 1	169					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.Q170*(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGGCGATATTGAATGGTCACC	0.572000													9	60					0	0	0.001368	0	0
DBX2	440097	broad.mit.edu	37	12	45410375	45410375	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:45410375C>T	ENST00000332700.6	-	4	885	c.714G>A	c.(712-714)agG>agA	p.R238R		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GCCATTTCATCCTCCTGTTCT	0.388000													17	54					0	0	0.007413	0	0
CDH20	28316	broad.mit.edu	37	18	59166487	59166487	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:59166487C>T	ENST00000262717.4	+	3	713	c.315C>T	c.(313-315)atC>atT	p.I105I	CDH20_ENST00000538374.1_Silent_p.I105I|CDH20_ENST00000536675.2_Silent_p.I105I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	105	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCTGGCATCGTGTTTACCA	0.517000													8	8					0	0	0.000673	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147030090	147030090	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:147030090C>T	ENST00000265272.5	-	4	1115	c.648G>A	c.(646-648)aaG>aaA	p.K216K	JAKMIP2_ENST00000333010.6_Silent_p.K174K|JAKMIP2_ENST00000507386.1_Silent_p.K216K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	216						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCCTGTCCTTGGCTTTGA	0.388000													18	18					0	0	0.001216	0	0
KMT2A	4297	broad.mit.edu	37	11	118373665	118373665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:118373665C>T	ENST00000534358.1	+	27	7081	c.7058C>T	c.(7057-7059)tCc>tTc	p.S2353F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2350F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2312F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAAATCGGCTCCTTTGCTGAA	0.468000													22	19					0	0	0.005443	0	0
GPR78	27201	broad.mit.edu	37	4	8584315	8584315	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:8584315G>A	ENST00000382487.4	+	2	1143	c.726G>A	c.(724-726)aaG>aaA	p.K242K	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	242					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K242N(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCACCAGGAAGATTGGCATTG	0.627000													22	51					0	0	0.005443	0	0
CD163L1	283316	broad.mit.edu	37	12	7556243	7556243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:7556243C>T	ENST00000313599.3	-	6	1353	c.1296G>A	c.(1294-1296)tgG>tgA	p.W432*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W432*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W442*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	432	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTGTTTATCCAAATGTCTC	0.463000													15	34					0	0	0.003163	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22923205	22923205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrY:22923205C>T	ENST00000288666.5	+	4	298	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	100	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						TGAGCATTTCCGCCTGGTCTA	0.423000													12	10					0	0	0.003163	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645475	122645475	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:122645475G>A	ENST00000195173.4	-	9	1203	c.900C>T	c.(898-900)ttC>ttT	p.F300F	SEMA5B_ENST00000357599.3_Silent_p.F300F|SEMA5B_ENST00000451055.2_Silent_p.F354F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	300	Sema.				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)		TCTCCCGCAGGAAGAAGTATG	0.612000													6	11					0	0	0.001984	0	0
NOL4	8715	broad.mit.edu	37	18	31673492	31673492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:31673492C>T	ENST00000261592.5	-	5	1006	c.709G>A	c.(709-711)Gat>Aat	p.D237N	NOL4_ENST00000589544.1_Missense_Mutation_p.D237N|NOL4_ENST00000538587.1_Missense_Mutation_p.D163N|NOL4_ENST00000269185.4_Missense_Mutation_p.D123N|NOL4_ENST00000535475.1_Missense_Mutation_p.D82N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	237						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGCTAAGATCAGAGTTCACA	0.363000													18	10					0	0	0.004990	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846785	47846785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:47846785C>T	ENST00000339488.4	-	3	1828	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	599						integral to membrane	hedgehog receptor activity										TTGCTTTCATCCCCTGCCTTG	0.423000													12	18					0	0	0.001368	0	0
RFX6	222546	broad.mit.edu	37	6	117248234	117248234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:117248234C>T	ENST00000332958.2	+	17	1946	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	644					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GATGACACCACCCATTTCTCC	0.488000													27	21					0	0	0.006320	0	0
BCL6	604	broad.mit.edu	37	3	187446313	187446313	+	Missense_Mutation	SNP	G	G	A	rs137878288	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:187446313G>A	ENST00000406870.2	-	6	1741	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	BCL6_ENST00000450123.2_Missense_Mutation_p.R459C|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R459C|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	459					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGCTGCTGCGGGGAGAGCCC	0.622000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								14	38					0	0	0.003163	0	0
ILKAP	80895	broad.mit.edu	37	2	239079622	239079622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:239079622G>A	ENST00000254654.3	-	11	1175	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	334	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GCTTCTTCTGGGGTAAAGACC	0.443000													43	71					0	0	0.003610	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:14613939G>A	ENST00000403951.2	-	20	2090	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_ENST00000402815.1_Silent_p.I556I|DGKB_ENST00000444700.2_Silent_p.I538I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.I557I|DGKB_ENST00000407950.1_Silent_p.I549I|DGKB_ENST00000406247.3_Silent_p.I557I|DGKB_ENST00000258767.5_Silent_p.I557I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000													36	59					0	0	0.003755	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767601	31767601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:31767601G>A	ENST00000240587.4	-	2	3425	c.3098C>T	c.(3097-3099)cCc>cTc	p.P1033L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1033					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCTTCCTCGGGGGAGGACGT	0.498000													4	20					0	0	0.000602	0	0
NBEA	26960	broad.mit.edu	37	13	36242548	36242548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:36242548G>A	ENST00000400445.3	+	57	9176	c.8642G>A	c.(8641-8643)gGg>gAg	p.G2881E	NBEA_ENST00000537702.1_Missense_Mutation_p.G674E|NBEA_ENST00000379939.2_Missense_Mutation_p.G2878E|NBEA_ENST00000310336.4_Missense_Mutation_p.G2881E|NBEA_ENST00000379922.3_Missense_Mutation_p.G459E|NBEA_ENST00000540320.1_Missense_Mutation_p.G2881E	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2881						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTCACCGGAGGGGACAATGGG	0.443000													9	13					0	0	0.006214	0	0
CCNB3	85417	broad.mit.edu	37	X	50051652	50051652	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:50051652G>A	ENST00000376042.1	+	6	781	c.483G>A	c.(481-483)aaG>aaA	p.K161K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K161K|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	161					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAGTTTTAAAGGAGGAACCCA	0.403000													23	5					0	0	0.003954	0	0
GPR98	84059	broad.mit.edu	37	5	89953728	89953728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:89953728G>A	ENST00000405460.2	+	21	4481	c.4385G>A	c.(4384-4386)gGg>gAg	p.G1462E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1462					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGGTCCTGGGATACTGAGA	0.393000													14	19					0	0	0.003163	0	0
MAGI3	260425	broad.mit.edu	37	1	114216003	114216003	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:114216003C>T	ENST00000369615.1	+	19	3167	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	MAGI3_ENST00000307546.9_Silent_p.L1035L|MAGI3_ENST00000369611.4_Silent_p.L1035L|MAGI3_ENST00000369617.4_Silent_p.L1060L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1060					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTCAGCCTCCGAGGGGGGA	0.493000													31	126					0	0	0.002836	0	0
MAP7D1	55700	broad.mit.edu	37	1	36643568	36643568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:36643568C>T	ENST00000316156.4	+	8	1816	c.1363C>T	c.(1363-1365)Cca>Tca	p.P455S	MAP7D1_ENST00000373148.4_Missense_Mutation_p.P38S|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P460S|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P492S			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	492						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CACTCTGCCTCCAAAGCCACC	0.692000													6	32					0	0	0.001168	0	0
RFT1	91869	broad.mit.edu	37	3	53133503	53133503	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:53133503C>T	ENST00000296292.3	-	11	1164		c.e11-1		RFT1_ENST00000394738.3_Splice_Site	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AAAACAGGACCTACAAGGAAA	0.498000													7	18					0	0	0.001984	0	0
KRT16	3868	broad.mit.edu	37	17	39766713	39766713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:39766713C>A	ENST00000301653.4	-	6	1214	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	384	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCCAGCTGCTCCTCCACACTG	0.582000													41	21					2.46787e-29	3.25202e-29	0.003610	1	0
SLITRK6	84189	broad.mit.edu	37	13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:86370229C>T	ENST00000400286.2	-	2	1013	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	139						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363000													28	41					0	0	0.004656	0	0
OSCP1	127700	broad.mit.edu	37	1	36884634	36884634	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:36884634T>C	ENST00000356637.5	-	10	1074	c.1011A>G	c.(1009-1011)ccA>ccG	p.P337P	OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000433045.2_Silent_p.P282P|OSCP1_ENST00000235532.5_Silent_p.P327P|OSCP1_ENST00000495222.1_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	337					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATAACTCTTCTGGCCTGGTTA	0.453000													62	116					0	0	0.003610	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627614	64627614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:64627614C>T	ENST00000498707.1	-	12	2108	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G561E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	589	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCCAGGATCCATCTGTCAC	0.493000													92	266					0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905578	54905578	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:54905578A>G	ENST00000474759.1	+	18	1687	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.K453E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.K547E|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.K547E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	547	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CGAAGAAGGAAAAAAGCGAAG	0.448000													18	23					0	0	0.001216	0	0
ADAR	103	broad.mit.edu	37	1	154574584	154574584	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:154574584G>A	ENST00000368474.4	-	2	733	c.534C>T	c.(532-534)tcC>tcT	p.S178S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.S221S|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	178					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTTGCCAGGGAGTATAAAA	0.517000													42	95					0	0	0.002852	0	0
PSD	5662	broad.mit.edu	37	10	104165107	104165107	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104165107C>T	ENST00000020673.5	-	12	2848	c.2322G>A	c.(2320-2322)agG>agA	p.R774R	PSD_ENST00000406432.1_Silent_p.R774R	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	774	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACATACTCTTCCTGCAGTCAG	0.672000													34	82					0	0	0.002852	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618596	77618596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:77618596C>T	ENST00000521891.2	+	2	2721	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P758L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P758L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P758L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	758						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACACCCTCTCCGTCCAAACCC	0.522000										HNSCC(33;0.089)			6	27					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21781647	21781647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:21781647C>T	ENST00000328843.6	+	50	8069	c.8038C>T	c.(8038-8040)Cca>Tca	p.P2680S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2673S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2680	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCATTTGCTCCATCAATTCT	0.403000									Kartagener syndrome				24	74					0	0	0.003954	0	0
PTPRB	5787	broad.mit.edu	37	12	70949670	70949670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:70949670C>T	ENST00000334414.6	-	19	5017	c.4973G>A	c.(4972-4974)aGc>aAc	p.S1658N	PTPRB_ENST00000550358.1_Missense_Mutation_p.S1570N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1350N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1350N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1350N|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1440N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1440					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGATAGTGCTGTCTTCAAC	0.522000													7	12					0	0	0.004482	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908051	12908051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:12908051G>A	ENST00000317869.6	-	2	317	c.92C>T	c.(91-93)tCg>tTg	p.S31L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTCCACATCCGATTTCTTGAC	0.463000													6	63					0	0	0.001984	0	0
PSD	5662	broad.mit.edu	37	10	104174893	104174893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104174893G>A	ENST00000020673.5	-	4	1377	c.851C>T	c.(850-852)tCc>tTc	p.S284F	PSD_ENST00000406432.1_Missense_Mutation_p.S284F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	284					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCTGTCTCGGAGTACTTGGC	0.657000													7	19					0	0	0.001984	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010010	27010010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:27010010C>T	ENST00000314616.6	+	15	2061	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A593V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	593					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TACATGGTAGCCCTGCAGATT	0.557000													7	13					0	0	0.001984	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631613	141631613	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:141631613T>C	ENST00000546910.1	-	6	555	c.359A>G	c.(358-360)gAc>gGc	p.D120G	CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.D97G|CLEC5A_ENST00000438351.1_Missense_Mutation_p.D97G|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Missense_Mutation_p.D16G	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	120	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATCAGTTATGTCCTGAAGAAA	0.383000													21	43					0	0	0.001523	0	0
NDST2	8509	broad.mit.edu	37	10	75567398	75567398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75567398G>A	ENST00000299641.4	-	4	1350	c.380C>T	c.(379-381)cCc>cTc	p.P127L	NDST2_ENST00000309979.6_Missense_Mutation_p.P250L	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	250	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGGCACTGCGGGCTCAGCTGG	0.582000													13	19					0	0	0.001368	0	0
MICAL1	64780	broad.mit.edu	37	6	109770007	109770007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:109770007G>A	ENST00000368952.4	-	12	1939	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	MICAL1_ENST00000358807.3_Missense_Mutation_p.S531F|MICAL1_ENST00000358577.3_Missense_Mutation_p.S445F			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	531	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGACAAATCGGAGACGTGGAC	0.647000													21	19					0	0	0.001523	0	0
NWD1	284434	broad.mit.edu	37	19	16918482	16918482	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:16918482C>T	ENST00000524140.2	+	18	4240	c.3822C>T	c.(3820-3822)ctC>ctT	p.L1274L	NWD1_ENST00000549814.1_Silent_p.L1232L|NWD1_ENST00000523826.1_Silent_p.L1068L|NWD1_ENST00000379808.3_Silent_p.L1274L|NWD1_ENST00000552788.1_Silent_p.L1274L|NWD1_ENST00000339803.6_Silent_p.L1139L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1274							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACGGGCCTCGTGTCGGGGG	0.577000													32	25					0	0	0.002836	0	0
EPHA7	2045	broad.mit.edu	37	6	93964457	93964457	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:93964457T>G	ENST00000369303.4	-	14	2624	c.2440A>C	c.(2440-2442)Aca>Cca	p.T814P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	814	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGCTGATGTGAATTTCCGG	0.383000													13	13					0	0	0.001368	0	0
ADAM28	10863	broad.mit.edu	37	8	24209551	24209551	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:24209551C>G	ENST00000265769.4	+	21	2340	c.2230C>G	c.(2230-2232)Ccc>Gcc	p.P744A	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	744					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGGCAATGAGCCCCCAGCCTC	0.403000													24	18					0	0	0.007291	0	0
OR5D14	219436	broad.mit.edu	37	11	55563136	55563136	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55563136C>T	ENST00000335605.1	+	1	105	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTTCTGCTCATGTATGTTA	0.403000													29	50					0	0	0.007291	0	0
SLC25A13	10165	broad.mit.edu	37	7	95820540	95820540	+	Missense_Mutation	SNP	G	G	A	rs137944390		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:95820540G>A	ENST00000416240.2	-	7	825	c.635C>T	c.(634-636)tCc>tTc	p.S212F	SLC25A13_ENST00000542654.1_Missense_Mutation_p.S104F|SLC25A13_ENST00000265631.5_Missense_Mutation_p.S212F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	212					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AACTTGATGGGATGTGGTACC	0.343000													24	47					0	0	0.003330	0	0
PCCB	5096	broad.mit.edu	37	3	136048787	136048787	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:136048787C>T	ENST00000471595.1	+	15	1557	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	PCCB_ENST00000482086.1_Silent_p.A397A|PCCB_ENST00000490504.1_Silent_p.A456A|PCCB_ENST00000251654.4_Silent_p.A513A|PCCB_ENST00000483687.1_Silent_p.A494A|PCCB_ENST00000466072.1_Silent_p.A533A|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000469217.1_Silent_p.A533A|PCCB_ENST00000462637.1_Silent_p.A490A|PCCB_ENST00000468777.1_Silent_p.A544A			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	513	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCACACGTGCCCGAATCTGCT	0.468000													19	44					0	0	0.001882	0	0
LCP2	3937	broad.mit.edu	37	5	169693889	169693889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:169693889G>A	ENST00000046794.5	-	10	1310	c.695C>T	c.(694-696)gCt>gTt	p.A232V	LCP2_ENST00000521416.1_Missense_Mutation_p.A27V	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	232					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TATTGAAGGAGCAGGGACTGG	0.507000													37	36					0	0	0.006230	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917290	25917290	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:25917290G>A	ENST00000377850.3	-	7	1199	c.675C>T	c.(673-675)ctC>ctT	p.L225L	SLC17A2_ENST00000360488.3_Silent_p.L225L|SLC17A2_ENST00000265425.3_Silent_p.L225L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	225					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L225L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGAACCATAGGAGACAGCAGA	0.463000													24	10					0	0	0.003954	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675821	77675821	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:77675821C>T	ENST00000296043.6	+	7	5138	c.4185C>T	c.(4183-4185)acC>acT	p.T1395T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1395					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACACCCTGACCCAGCCTCCCG	0.627000													4	12					0	0	0.000248	0	0
EIF5B	9669	broad.mit.edu	37	2	100010788	100010788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:100010788G>A	ENST00000289371.5	+	19	3141	c.2939G>A	c.(2938-2940)gGa>gAa	p.G980E		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	980					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAGAAAAAGGAGTCTATGTC	0.393000													30	44					0	0	0.006320	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103945	55103945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:55103945G>A	ENST00000374971.1	+	4	359	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	PAGE2B_ENST00000374974.3_Missense_Mutation_p.V86M	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	103										lung(3)	3						TCTCACTAAAGTGCTGGAAGC	0.393000													35	17					0	0	0.007835	0	0
DDX50	79009	broad.mit.edu	37	10	70670845	70670845	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70670845T>A	ENST00000373585.3	+	4	589	c.482T>A	c.(481-483)tTt>tAt	p.F161Y		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	161						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACATATCTCTTTCCTATTCAA	0.343000													48	57					0	0	0.003610	0	0
TSC2	7249	broad.mit.edu	37	16	2125887	2125887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:2125887C>T	ENST00000219476.3	+	23	3263	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L	TSC2_ENST00000350773.4_Missense_Mutation_p.P878L|TSC2_ENST00000439673.2_Missense_Mutation_p.P841L|TSC2_ENST00000568454.1_Missense_Mutation_p.P889L|TSC2_ENST00000353929.4_Missense_Mutation_p.P878L|TSC2_ENST00000382538.6_Missense_Mutation_p.P829L|TSC2_ENST00000401874.2_Missense_Mutation_p.P878L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	878					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TACACCAACCCCTCCAAGTGA	0.657000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				15	17					0	0	0.006122	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406667	138406667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:138406667C>T	ENST00000310018.2	-	19	2396	c.2114G>A	c.(2113-2115)gGg>gAg	p.G705E	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G705E|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G705E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	705					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCAGAGCCCCGTGGGTATC	0.532000													11	25					0	0	0.001368	0	0
OR10H1	26539	broad.mit.edu	37	19	15918182	15918182	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15918182G>A	ENST00000334920.2	-	1	754	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGCGGCCACGATGAAGGCAT	0.577000													27	27					0	0	0.006999	0	0
PLG	5340	broad.mit.edu	37	6	161152886	161152886	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:161152886C>T	ENST00000308192.9	+	12	1611	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	516	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGCATTTTCACTCCAGAGA	0.512000													18	14					0	0	0.001882	0	0
PRMT1	3276	broad.mit.edu	37	19	50189873	50189873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50189873C>T	ENST00000532489.1	+	10	1290	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	PRMT1_ENST00000391851.4_Missense_Mutation_p.P290S|PRMT1_ENST00000454376.2_Missense_Mutation_p.P308S			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	289						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCCCGAGTCCCCGTACACGCA	0.687000													4	16					0	0	0.001168	0	0
ZNF587	84914	broad.mit.edu	37	19	58370775	58370775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:58370775C>T	ENST00000339656.5	+	3	1177	c.995C>T	c.(994-996)tCt>tTt	p.S332F	ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S289F|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.S331F|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGTGGGAAATCTTTTGGTCAA	0.458000													44	78					0	0	0.003610	0	0
SPAM1	6677	broad.mit.edu	37	7	123594421	123594421	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:123594421A>T	ENST00000340011.5	+	3	1154	c.797A>T	c.(796-798)aAc>aTc	p.N266I	SPAM1_ENST00000402183.2_Missense_Mutation_p.N266I|SPAM1_ENST00000223028.7_Missense_Mutation_p.N266I|SPAM1_ENST00000439500.1_Missense_Mutation_p.N266I|SPAM1_ENST00000460182.1_Missense_Mutation_p.N266I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	266					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATTTATTTGAACACTCAGCAG	0.423000													11	50					0	0	0.001368	0	0
LPAR1	1902	broad.mit.edu	37	9	113703904	113703904	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:113703904T>C	ENST00000374431.3	-	4	973	c.590A>G	c.(589-591)aAc>aGc	p.N197S	LPAR1_ENST00000541779.1_Missense_Mutation_p.N198S|LPAR1_ENST00000538760.1_Missense_Mutation_p.N198S|LPAR1_ENST00000374430.2_Missense_Mutation_p.N197S|LPAR1_ENST00000358883.4_Missense_Mutation_p.N197S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGGTGCCATGTTGGAACAATT	0.463000													18	40					0	0	0.001523	0	0
COL11A1	1301	broad.mit.edu	37	1	103412448	103412448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:103412448C>T	ENST00000358392.2	-	42	3586	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1078E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1039E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G962E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1078	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)		ACCCTGAGGTCCCGGGCGCCC	0.478000													6	22					0	0	0.001168	0	0
RGS12	6002	broad.mit.edu	37	4	3318983	3318983	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:3318983G>A	ENST00000336727.3	+	2	1990	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	RGS12_ENST00000543385.1_Silent_p.E362E|RGS12_ENST00000344733.5_Silent_p.E362E|RGS12_ENST00000382788.3_Silent_p.E362E	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	362						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGGGTTTGAGTGCACGGCCG	0.592000													17	43					0	0	0.004990	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407217	185407217	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:185407217G>A	ENST00000382199.2	-	6	698	c.603C>T	c.(601-603)ccC>ccT	p.P201P	IGF2BP2_ENST00000457616.2_Silent_p.P207P|IGF2BP2_ENST00000421047.2_Silent_p.P144P|IGF2BP2_ENST00000346192.3_Silent_p.P201P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	201	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAAACTGGGTGGGGACCAGGA	0.607000													68	167					0	0	0.003610	0	0
SERPINA7	6906	broad.mit.edu	37	X	105278308	105278308	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105278308A>C	ENST00000327674.4	-	3	1297	c.962T>G	c.(961-963)tTg>tGg	p.L321W	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L321W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	321					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCCCATCTTCAAAAGTGTGGC	0.413000													27	14					0	0	0.006320	0	0
MEPCE	56257	broad.mit.edu	37	7	100030695	100030695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100030695C>T	ENST00000310512.2	+	2	2213	c.1825C>T	c.(1825-1827)Cct>Tct	p.P609S	MEPCE_ENST00000414441.1_Missense_Mutation_p.P140S	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	609	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCTACGCCCTGGGGGCAT	0.577000													13	36					0	0	0.002450	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256181	140256181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140256181C>T	ENST00000398631.2	+	1	1124	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGCGTGTCGGATCGTGAC	0.512000													18	18					0	0	0.007413	0	0
FCF1	51077	broad.mit.edu	37	14	75201622	75201622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:75201622C>T	ENST00000341162.4	+	8	640	c.586C>T	c.(586-588)Cct>Tct	p.P196S	FCF1_ENST00000553615.1_Missense_Mutation_p.P181S|FCF1_ENST00000534938.2_Missense_Mutation_p.P184S	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	196					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TTATGGAGCCCCTCGATTCTA	0.413000													38	28					0	0	0.007835	0	0
HAO1	54363	broad.mit.edu	37	20	7895057	7895057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:7895057G>A	ENST00000378789.3	-	3	350	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	100	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CGTTCCCAGGGACTGACAGGC	0.502000													12	15					0	0	0.002450	0	0
ALPK2	115701	broad.mit.edu	37	18	56184389	56184389	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:56184389T>C	ENST00000361673.3	-	9	5904	c.5691A>G	c.(5689-5691)caA>caG	p.Q1897Q		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1897							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAAGATGAGTTGGCTGAATT	0.532000													8	5					0	0	0.000673	0	0
LRFN2	57497	broad.mit.edu	37	6	40360102	40360102	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:40360102C>T	ENST00000338305.6	-	3	2492	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	650						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGGCTGGGCTTGGGGCGCG	0.706000													3	1					0	0	0.004672	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232888	1232888	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:1232888C>T	ENST00000324642.3	+	3	447	c.324C>T	c.(322-324)tcC>tcT	p.S108S	SLC6A18_ENST00000296821.4_Silent_p.S108S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	108					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCACGCTGTCCTTCCTGATCA	0.622000													14	38					0	0	0.001855	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458758	45458758	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:45458758G>A	ENST00000548424.1	+	0	448																											CCTCTGTTGAGAAAAGCCAAA	0.433000													8	19					0	0	0.006214	0	0
RICTOR	253260	broad.mit.edu	37	5	38950766	38950766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:38950766G>A	ENST00000357387.3	-	31	3214	c.3184C>T	c.(3184-3186)Ctt>Ttt	p.L1062F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L1062F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1062					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGATATCAAGGAAAAATGTG	0.348000													30	28					0	0	0.002096	0	0
NAT10	55226	broad.mit.edu	37	11	34152950	34152950	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:34152950C>T	ENST00000257829.3	+	14	1598	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	NAT10_ENST00000531159.2_Silent_p.S392S|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	464						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATGAGGTTTCCCTCCAGGAGT	0.463000													18	16					0	0	0.001523	0	0
DGKB	1607	broad.mit.edu	37	7	14620486	14620486	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:14620486C>T	ENST00000403951.2	-	19	2032		c.e19+1		DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000444700.2_Splice_Site|DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000258767.5_Splice_Site			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGCTGCTTTACCTCCTCCCCA	0.438000													11	35					0	0	0.001368	0	0
PPWD1	23398	broad.mit.edu	37	5	64878967	64878967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:64878967G>A	ENST00000261308.5	+	8	1525	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	PPWD1_ENST00000535264.1_Missense_Mutation_p.E455K|PPWD1_ENST00000538977.1_Missense_Mutation_p.E329K	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	485					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TACTCAAGCTGAAGGACCTAA	0.403000													26	24					0	0	0.003954	0	0
USP43	124739	broad.mit.edu	37	17	9583588	9583588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:9583588C>T	ENST00000570827.2	+	6	1151	c.77C>T	c.(76-78)tCt>tTt	p.S26F	USP43_ENST00000285199.6_Missense_Mutation_p.S337F|USP43_ENST00000570475.1_Missense_Mutation_p.S337F|USP43_ENST00000575346.1_3'UTR			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	337					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCCAGCGGTCTTTCTTTGAT	0.438000													23	15					0	0	0.003954	0	0
C10orf137	26098	broad.mit.edu	37	10	127431743	127431743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:127431743C>T	ENST00000337623.3	+	17	2491	c.2386C>T	c.(2386-2388)Cca>Tca	p.P796S	C10orf137_ENST00000356792.4_Missense_Mutation_p.P830S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGCCAAAATCCAGAACACTA	0.353000													15	21					0	0	0.002450	0	0
ZNF525	170958	broad.mit.edu	37	19	53884421	53884421	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53884421C>T	ENST00000467003.1	+	4	682	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Silent_p.L197L					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GGATAATTTTCTGAATTATTC	0.373000													17	37					0	0	0.004007	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597008	31597008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:31597008C>T	ENST00000376033.2	+	13	2087	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P618L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	618	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGGTGGAACCCAAGGGTGAT	0.577000													28	23					0	0	0.001786	0	0
CFHR4	10877	broad.mit.edu	37	1	196883701	196883701	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:196883701G>A	ENST00000367416.2	+	8	1391	c.1254G>A	c.(1252-1254)ttG>ttA	p.L418L	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Silent_p.L172L|CFHR4_ENST00000367418.1_Silent_p.L172L	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATGACACATTGGACTACGAAT	0.398000													17	24					0	0	0.001216	0	0
ANK3	288	broad.mit.edu	37	10	61834849	61834849	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:61834849T>C	ENST00000280772.1	-	37	5981	c.5790A>G	c.(5788-5790)caA>caG	p.Q1930Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1930					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGAGTTCAGGTTGGAATGGCT	0.403000													10	25					0	0	0.000673	0	0
CARD11	84433	broad.mit.edu	37	7	2952950	2952950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2952950C>T	ENST00000396946.4	-	22	3393	c.2990G>A	c.(2989-2991)gGt>gAt	p.G997D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	997	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCATGGCACCTCCCGAGTT	0.667000			Mis		DLBCL								23	60					0	0	0.002780	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797904	31797904	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:31797904G>A	ENST00000390690.2	-	1	382	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	109						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CACAGCTCAGGGAGCAGCAGC	0.517000													9	16					0	0	0.006214	0	0
USP34	9736	broad.mit.edu	37	2	61493252	61493252	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:61493252C>T	ENST00000398571.2	-	42	5560	c.5484G>A	c.(5482-5484)aaG>aaA	p.K1828K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1828					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTGTCGGTCCTTTAGACTTG	0.383000													15	23					0	0	0.003163	0	0
XPO4	64328	broad.mit.edu	37	13	21382643	21382643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:21382643G>A	ENST00000400602.2	-	12	1606	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	XPO4_ENST00000255305.6_Missense_Mutation_p.S524L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	524					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACAGTGCTTGAACCCGGTGA	0.358000													12	29					0	0	0.001368	0	0
GAPDHS	26330	broad.mit.edu	37	19	36029566	36029566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:36029566G>A	ENST00000222286.4	+	4	546	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	144					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GGACAACCATGAGATCTCTGT	0.512000													13	21					0	0	0.002450	0	0
C1orf94	84970	broad.mit.edu	37	1	34677852	34677852	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:34677852C>T	ENST00000488417.1	+	6	1686	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	C1orf94_ENST00000373374.3_Silent_p.F332F	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	332							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGCAGATCTTCCGCTCTTCCT	0.557000													16	31					0	0	0.001216	0	0
HPR	3250	broad.mit.edu	37	16	72110725	72110725	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:72110725G>A	ENST00000540303.2	+	5	824	c.792G>A	c.(790-792)aaG>aaA	p.K264K	HPR_ENST00000356967.5_Silent_p.K264K|HPR_ENST00000228226.8_Silent_p.K301K|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	264	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCAAATGGAAGGCACCGAAGA	0.507000													10	48					0	0	0.006214	0	0
DIDO1	11083	broad.mit.edu	37	20	61513394	61513394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:61513394G>A	ENST00000266070.4	-	16	4239	c.3914C>T	c.(3913-3915)tCg>tTg	p.S1305L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1305L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1305					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAAGCAGACGAAGCGGTGGA	0.597000													34	79					0	0	0.005524	0	0
OR1E1	8387	broad.mit.edu	37	17	3300968	3300968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:3300968G>A	ENST00000322608.2	-	1	736	c.737C>T	c.(736-738)tCt>tTt	p.S246F		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGACACCACAGACAGGTGGGA	0.463000													18	16					0	0	0.007413	0	0
FANCA	2175	broad.mit.edu	37	16	89815171	89815171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:89815171G>A	ENST00000389301.3	-	33	3274	c.3244C>T	c.(3244-3246)Ctc>Ttc	p.L1082F	FANCA_ENST00000568369.1_Missense_Mutation_p.L1082F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1082			L -> P (in FA).		DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGCGGAGGAGGATCCTGGAA	0.582000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	22					0	0	0.004482	0	0
APOL5	80831	broad.mit.edu	37	22	36123135	36123135	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:36123135G>A	ENST00000249044.2	+	3	1020	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	340					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGCAGGAGCTGGACCGGCTCA	0.627000													17	16					0	0	0.004007	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887601	26887601	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:26887601C>T	ENST00000374168.2	+	16	1561	c.1407C>T	c.(1405-1407)caC>caT	p.H469H	RPS6KA1_ENST00000530003.1_Silent_p.H453H|RPS6KA1_ENST00000526792.1_Silent_p.H377H|RPS6KA1_ENST00000531382.1_Silent_p.H478H|RPS6KA1_ENST00000374162.2_Silent_p.H377H|RPS6KA1_ENST00000374166.4_Silent_p.H458H	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	469	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGGCCAGCACCCCAACATCA	0.512000													14	20					0	0	0.003163	0	0
SNCA	6622	broad.mit.edu	37	4	90647782	90647782	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:90647782G>A	ENST00000394989.2	-	5	640	c.378C>T	c.(376-378)gcC>gcT	p.A126A	SNCA_ENST00000336904.3_Silent_p.A140A|SNCA_ENST00000420646.2_Silent_p.A112A|SNCA_ENST00000508895.1_Silent_p.A140A|SNCA_ENST00000505199.1_Silent_p.A126A|SNCA_ENST00000394991.3_Silent_p.A140A|SNCA_ENST00000394986.1_Silent_p.A140A|SNCA_ENST00000506244.1_Silent_p.A140A|SNCA_ENST00000345009.4_Silent_p.A112A			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	140					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	ATATTTCTTAGGCTTCAGGTT	0.398000													15	41					0	0	0.001216	0	0
CEP164	22897	broad.mit.edu	37	11	117251344	117251344	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:117251344G>A	ENST00000278935.3	+	12	1479	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	444					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCAACCACTGGGAATAGAAG	0.537000													5	6					0	0	0.001168	0	0
RYR3	6263	broad.mit.edu	37	15	33842363	33842363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:33842363G>A	ENST00000389232.4	+	10	888	c.818G>A	c.(817-819)tGg>tAg	p.W273*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.W273*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	273					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)		CTGCCCAGCTGGAGTGGCAGT	0.448000													7	14					0	0	0.006214	0	0
VPS39	23339	broad.mit.edu	37	15	42458375	42458375	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:42458375G>A	ENST00000318006.5	-	16	1824	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	VPS39_ENST00000348544.4_Silent_p.F565F	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	565					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CATCTTCTGGGAAGTCTCTCA	0.498000													22	38					0	0	0.003954	0	0
OR4K5	79317	broad.mit.edu	37	14	20388826	20388826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20388826C>T	ENST00000315915.4	+	1	86	c.61C>T	c.(61-63)Caa>Taa	p.Q21*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTAGTTCTCAAAAACTCCA	0.393000													17	26					0	0	0.006122	0	0
FGF20	26281	broad.mit.edu	37	8	16850656	16850656	+	Silent	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:16850656A>G	ENST00000180166.5	-	3	709	c.561T>C	c.(559-561)ttT>ttC	p.F187F		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	187					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAAATGTGTAAATTTCTGAT	0.433000													19	14					0	0	0.006122	0	0
USH2A	7399	broad.mit.edu	37	1	215914744	215914744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:215914744C>T	ENST00000366943.2	-	60	12070	c.11684G>A	c.(11683-11685)gGa>gAa	p.G3895E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3895E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3895	Fibronectin type-III 24.		G -> E (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGATGATTCCATTTGGTTT	0.398000										HNSCC(13;0.011)			33	55					0	0	0.003755	0	0
BAI3	577	broad.mit.edu	37	6	69944926	69944926	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:69944926C>T	ENST00000370598.1	+	19	3431	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	BAI3_ENST00000238918.8_Silent_p.I76I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	870					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTCACAGATCATGGAATCCT	0.363000													34	34					0	0	0.002445	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701351	48701351	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48701351C>T	ENST00000352832.5	+	32	6135	c.5763C>T	c.(5761-5763)ccC>ccT	p.P1921P	CACNA1G_ENST00000507896.1_Silent_p.P1944P|CACNA1G_ENST00000429973.2_Silent_p.P1937P|CACNA1G_ENST00000507510.2_Silent_p.P2003P|CACNA1G_ENST00000507609.1_Silent_p.P1948P|CACNA1G_ENST00000360761.4_Silent_p.P1932P|CACNA1G_ENST00000359106.5_Silent_p.P2048P|CACNA1G_ENST00000514717.1_Silent_p.P1898P|CACNA1G_ENST00000514181.1_Silent_p.P1930P|CACNA1G_ENST00000515765.1_Silent_p.P1992P|CACNA1G_ENST00000503485.1_Silent_p.P1921P|CACNA1G_ENST00000514079.1_Silent_p.P1962P|CACNA1G_ENST00000502264.1_Silent_p.P1977P|CACNA1G_ENST00000507336.1_Silent_p.P2037P|CACNA1G_ENST00000513964.1_Silent_p.P1910P|CACNA1G_ENST00000513689.2_Silent_p.P1958P|CACNA1G_ENST00000505165.1_Silent_p.P1955P|CACNA1G_ENST00000510115.1_Silent_p.P1969P|CACNA1G_ENST00000358244.5_Silent_p.P1921P|CACNA1G_ENST00000512389.1_Silent_p.P1944P|CACNA1G_ENST00000354983.4_Silent_p.P2014P|CACNA1G_ENST00000442258.2_Silent_p.P1914P|CACNA1G_ENST00000510366.1_Silent_p.P1903P|CACNA1G_ENST00000515411.1_Silent_p.P1985P|CACNA1G_ENST00000515165.1_Silent_p.P1955P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2048					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTCTCTGCCCAATGACAGCT	0.632000													44	24					0	0	0.002522	0	0
TSC2	7249	broad.mit.edu	37	16	2125886	2125886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:2125886C>T	ENST00000219476.3	+	23	3262	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S	TSC2_ENST00000350773.4_Missense_Mutation_p.P878S|TSC2_ENST00000439673.2_Missense_Mutation_p.P841S|TSC2_ENST00000568454.1_Missense_Mutation_p.P889S|TSC2_ENST00000353929.4_Missense_Mutation_p.P878S|TSC2_ENST00000382538.6_Missense_Mutation_p.P829S|TSC2_ENST00000401874.2_Missense_Mutation_p.P878S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	878					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTACACCAACCCCTCCAAGTG	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				15	17					0	0	0.006122	0	0
CCDC122	160857	broad.mit.edu	37	13	44433893	44433893	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:44433893T>C	ENST00000444614.3	-	5	728	c.470A>G	c.(469-471)gAt>gGt	p.D157G	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Missense_Mutation_p.D157G	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	157										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTTAACAAAATCTCGCTTTTC	0.318000													27	41					0	0	0.006320	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													10	16					0	0	0.001368	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506976	74506976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:74506976C>T	ENST00000354431.4	-	7	1830	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E547K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	547										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGGCTTTTCTCTTTTAGGACA	0.308000													34	46					0	0	0.002836	0	0
FMNL2	114793	broad.mit.edu	37	2	153417498	153417498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:153417498C>T	ENST00000288670.9	+	6	912	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	182	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCAACCTGCCCTCACCTGTG	0.542000													3	5					0	0	0.000602	0	0
EPHA3	2042	broad.mit.edu	37	3	89480431	89480431	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:89480431T>C	ENST00000336596.2	+	13	2493	c.2268T>C	c.(2266-2268)agT>agC	p.S756S	EPHA3_ENST00000494014.1_Silent_p.S756S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	756	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGATCAACAGTAACTTGGTGT	0.478000										TSP Lung(6;0.00050)			13	22					0	0	0.004007	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577044	158577044	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158577044G>A	ENST00000361284.1	+	1	816	c.816G>A	c.(814-816)caG>caA	p.Q272Q		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGAGAGATCAGCTTATTGCCA	0.468000													73	113					0	0	0.003610	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123661	47123661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:47123661G>A	ENST00000290341.3	+	14	1901	c.1567G>A	c.(1567-1569)Gta>Ata	p.V523I	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.V384I	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	523	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGGTGGTAGTACCAAGAGA	0.547000													23	32					0	0	0.003954	0	0
EMR1	2015	broad.mit.edu	37	19	6926573	6926573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:6926573C>T	ENST00000312053.4	+	16	2220	c.2183C>T	c.(2182-2184)tCt>tTt	p.S728F	EMR1_ENST00000381407.5_Missense_Mutation_p.S587F|EMR1_ENST00000381404.4_Missense_Mutation_p.S676F|EMR1_ENST00000450315.3_Missense_Mutation_p.S551F|EMR1_ENST00000250572.8_Missense_Mutation_p.S663F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	728					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GTGGTGATCTCTGCCAGTGTG	0.512000													27	20					0	0	0.001512	0	0
TRPM4	54795	broad.mit.edu	37	19	49703939	49703939	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49703939G>A	ENST00000252826.5	+	19	2976	c.2850G>A	c.(2848-2850)ggG>ggA	p.G950G	TRPM4_ENST00000427978.2_Silent_p.G805G|TRPM4_ENST00000355712.5_Silent_p.G596G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	950					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCACGGAGGGGCTCCTGAGGC	0.612000													10	28					0	0	0.006214	0	0
MMP9	4318	broad.mit.edu	37	20	44639787	44639787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44639787C>T	ENST00000372330.3	+	5	674	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCAGTGGTTCCAACTCGGTT	0.632000													69	127					0	0	0.003610	0	0
FCRL5	83416	broad.mit.edu	37	1	157512802	157512802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:157512802C>T	ENST00000361835.3	-	6	1127	c.970G>A	c.(970-972)Gag>Aag	p.E324K	FCRL5_ENST00000356953.4_Missense_Mutation_p.E324K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E239K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E324K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E324K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	324	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGACACCCTCATGATAAAAC	0.498000													23	44					0	0	0.001882	0	0
ETV5	2119	broad.mit.edu	37	3	185823650	185823650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:185823650C>T	ENST00000306376.5	-	2	254	c.8G>A	c.(7-9)gGg>gAg	p.G3E	ETV5_ENST00000537818.1_Missense_Mutation_p.G45E|ETV5_ENST00000434744.1_Missense_Mutation_p.G3E|DGKG_ENST00000447054.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	3					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCATAAAACCCGTCCATGGT	0.448000			T	"""TMPRSS2, SCL45A3"""	Prostate								9	26					0	0	0.000673	0	0
MGAM	8972	broad.mit.edu	37	7	141750661	141750661	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:141750661G>A	ENST00000475668.2	+	24	2856	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	MGAM_ENST00000549489.2_Silent_p.L934L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	934					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTAACCTGAAGGTAAAAA	0.428000													20	41					0	0	0.001882	0	0
RCC2	55920	broad.mit.edu	37	1	17752038	17752038	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:17752038C>T	ENST00000375436.4	-	4	709	c.523_splice	c.e4+1	p.W174_splice	RCC2_ENST00000375433.3_Splice_Site_p.W174_splice	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	174					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGTACTCACCCCAGCTCCACA	0.627000													4	4					0	0	0.000602	0	0
PCDH10	57575	broad.mit.edu	37	4	134073473	134073473	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:134073473C>T	ENST00000264360.4	+	1	3004	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	726					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTCGGTGTCCTTCATCTTCC	0.597000													12	32					0	0	0.002450	0	0
NEU3	10825	broad.mit.edu	37	11	74716515	74716515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:74716515C>T	ENST00000294064.4	+	3	1291	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	NEU3_ENST00000532963.1_Missense_Mutation_p.P51L|NEU3_ENST00000545272.1_Missense_Mutation_p.P13S|NEU3_ENST00000544263.1_Missense_Mutation_p.P89S|NEU3_ENST00000531509.1_Missense_Mutation_p.P122S|NEU3_ENST00000529024.1_Missense_Mutation_p.P51L	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	122										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GACCATGAACCCCTGTCCTGT	0.537000													13	10					0	0	0.001368	0	0
DYSF	8291	broad.mit.edu	37	2	71730418	71730418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:71730418C>T	ENST00000258104.3	+	4	588	c.311C>T	c.(310-312)cCc>cTc	p.P104L	DYSF_ENST00000410041.1_Missense_Mutation_p.P105L|DYSF_ENST00000409744.1_Missense_Mutation_p.P105L|DYSF_ENST00000413539.2_Missense_Mutation_p.P104L|DYSF_ENST00000409762.1_Missense_Mutation_p.P104L|DYSF_ENST00000409651.1_Missense_Mutation_p.P105L|DYSF_ENST00000409582.3_Missense_Mutation_p.P104L|DYSF_ENST00000409366.1_Missense_Mutation_p.P105L|DYSF_ENST00000394120.2_Missense_Mutation_p.P105L|DYSF_ENST00000410020.3_Missense_Mutation_p.P105L|DYSF_ENST00000429174.2_Missense_Mutation_p.P104L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	104						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCAATGCCCCCCTGCTGGAC	0.592000													21	49					0	0	0.001523	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450057	105450057	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105450057A>G	ENST00000337685.2	+	5	1417	c.632A>G	c.(631-633)aAg>aGg	p.K211R	MUM1L1_ENST00000357175.2_Missense_Mutation_p.K211R|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K211R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	211										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AACAAGAATAAGATTGATATC	0.383000													12	2					0	0	0.001368	0	0
USP54	159195	broad.mit.edu	37	10	75258871	75258871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75258871C>T	ENST00000339859.4	-	23	4671	c.4571G>A	c.(4570-4572)gGa>gAa	p.G1524E	USP54_ENST00000394811.2_Missense_Mutation_p.G565E|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.G1524E|USP54_ENST00000422491.2_Missense_Mutation_p.G659E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.G1374E|RP11-137L10.6_ENST00000442133.3_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1524					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CAAAGTCCTTCCTGTGTACTT	0.527000													57	112					0	0	0.003610	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827034	43827034	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43827034G>A	ENST00000420765.1	-	31	4322	c.4140C>T	c.(4138-4140)atC>atT	p.I1380I	PPIP5K1_ENST00000360135.4_Silent_p.I1353I|PPIP5K1_ENST00000360301.4_Silent_p.I1355I|PPIP5K1_ENST00000334933.4_Silent_p.I1355I|PPIP5K1_ENST00000348806.6_Silent_p.I1353I|PPIP5K1_ENST00000381879.4_Silent_p.I1356I|PPIP5K1_ENST00000396923.3_Silent_p.I1380I|PPIP5K1_ENST00000381885.1_Silent_p.I1376I	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1380					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GGTATGGCTGGATGACCTCCT	0.527000													32	62					0	0	0.003271	0	0
MLIP	90523	broad.mit.edu	37	6	54066921	54066921	+	Missense_Mutation	SNP	C	C	T	rs138048655		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:54066921C>T	ENST00000514921.1	+	11	2688	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C	MLIP_ENST00000509997.1_Missense_Mutation_p.R189C|MLIP_ENST00000370876.2_Missense_Mutation_p.R179C|MLIP_ENST00000370877.2_Missense_Mutation_p.R231C|MLIP_ENST00000274897.5_Missense_Mutation_p.R335C|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.R235C|MLIP_ENST00000502396.1_Missense_Mutation_p.R870C			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	335						nuclear envelope|PML body	protein binding	p.R335C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGGAGTAATTCGCCCAGTACC	0.313000													24	7					0	0	0.003954	0	0
ADAR	103	broad.mit.edu	37	1	154574585	154574585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:154574585G>A	ENST00000368474.4	-	2	732	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.S221F|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	178					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTTGCCAGGGAGTATAAAAC	0.517000													42	95					0	0	0.002522	0	0
TOM1	10043	broad.mit.edu	37	22	35742938	35742938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35742938G>A	ENST00000411850.1	+	14	1425	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	TOM1_ENST00000447733.1_Missense_Mutation_p.E401K|TOM1_ENST00000425375.1_Missense_Mutation_p.E389K|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.E434K|TOM1_ENST00000436462.2_Missense_Mutation_p.E396K	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	434					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGATGCGGAAGAGCCTAAGGG	0.667000													13	43					0	0	0.004990	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837628	124837628	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124837628G>A	ENST00000423114.2	-	8	983	c.984C>T	c.(982-984)ttC>ttT	p.F328F	SLC12A8_ENST00000314584.7_Silent_p.F52F|SLC12A8_ENST00000393469.4_Silent_p.F299F|SLC12A8_ENST00000430155.2_Silent_p.F100F|SLC12A8_ENST00000469902.1_Silent_p.F299F|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	299					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCGCTATCAGGAAGTCATAGC	0.532000													6	7					0	0	0.001984	0	0
BRCC3	79184	broad.mit.edu	37	X	154348417	154348417	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:154348417C>T	ENST00000369462.1	+	11	968	c.943C>T	c.(943-945)Cta>Tta	p.L315L	BRCC3_ENST00000330045.7_Silent_p.L290L|BRCC3_ENST00000399042.1_Silent_p.L316L|BRCC3_ENST00000369459.2_Silent_p.L246L|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Silent_p.L291L	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	315					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTTCTTCTCTAGAATAAAT	0.403000													49	16					0	0	0.003610	0	0
UBR1	197131	broad.mit.edu	37	15	43367225	43367225	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43367225G>A	ENST00000290650.4	-	4	558	c.480C>T	c.(478-480)ggC>ggT	p.G160G	UBR1_ENST00000382177.2_Silent_p.G160G	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	160					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CACAAAAAGGGCCAGTTTTCC	0.363000													76	146					0	0	0.003610	0	0
TMEM67	91147	broad.mit.edu	37	8	94798460	94798460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:94798460C>T	ENST00000453321.3	+	13	1356	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	TMEM67_ENST00000409623.3_Missense_Mutation_p.S352F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	433					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GACAGCAACTCTGGAAAGTGG	0.348000													12	33					0	0	0.004007	0	0
PVRL3	25945	broad.mit.edu	37	3	110852746	110852746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:110852746C>T	ENST00000485303.1	+	6	1609	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	445					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AACTACATTCCACCATCAGAT	0.388000													23	33					0	0	0.002299	0	0
DUSP22	56940	broad.mit.edu	37	6	350831	350831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:350831G>A	ENST00000344450.5	+	8	961	c.518G>A	c.(517-519)gGa>gAa	p.G173E	DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	173					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCGCTCCGGGAATTCTGAAG	0.403000													31	115					0	0	0.003271	0	0
MROH9	80133	broad.mit.edu	37	1	170967484	170967484	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:170967484C>T	ENST00000367758.3	+	15	1764	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9																		AATCAAAATTCCAGTTTCTCG	0.383000													16	24					0	0	0.006122	0	0
CCDC9	26093	broad.mit.edu	37	19	47773841	47773841	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47773841C>T	ENST00000221922.6	+	10	1203	c.981C>T	c.(979-981)ccC>ccT	p.P327P		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	327										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCGAAGCCCCCTACTTTTG	0.647000													14	41					0	0	0.004007	0	0
GPR35	2859	broad.mit.edu	37	2	241569905	241569905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:241569905G>A	ENST00000319838.5	+	6	1478	c.536G>A	c.(535-537)gGa>gAa	p.G179E	GPR35_ENST00000430267.1_Missense_Mutation_p.G179E|GPR35_ENST00000438013.2_Missense_Mutation_p.G210E|GPR35_ENST00000407714.1_Missense_Mutation_p.G179E|GPR35_ENST00000403859.1_Missense_Mutation_p.G179E	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	179						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCGCTGCTGGGATTCTACCTG	0.667000													12	29					0	0	0.001855	0	0
CEP78	84131	broad.mit.edu	37	9	80881427	80881427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:80881427C>T	ENST00000424347.2	+	15	2156	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	CEP78_ENST00000415759.2_Missense_Mutation_p.P624S|CEP78_ENST00000376597.4_Missense_Mutation_p.P640S|CEP78_ENST00000376598.2_Missense_Mutation_p.P639S|CEP78_ENST00000277082.5_Missense_Mutation_p.P623S			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	623					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGTTTCTACTCCAGAGGGCTT	0.438000													18	36					0	0	0.001523	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660467	77660467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:77660467G>A	ENST00000296043.6	+	5	2094	c.1141G>A	c.(1141-1143)Ggt>Agt	p.G381S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	381					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTAAGGTGGGTGCACCCCT	0.617000													20	22					0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82474693	82474693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82474693C>T	ENST00000423517.2	-	13	14277	c.13940G>A	c.(13939-13941)gGa>gAa	p.G4647E	PCLO_ENST00000333891.8_Missense_Mutation_p.G4647E|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4535	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACATGAGATCCTTTTTCAAC	0.532000													9	20					0	0	0.006214	0	0
OR52I2	143502	broad.mit.edu	37	11	4608931	4608931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:4608931G>A	ENST00000312614.4	+	1	911	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGGGGCAGGATGTAGTGCC	0.512000													34	41					0	0	0.004878	0	0
C11orf30	56946	broad.mit.edu	37	11	76256911	76256911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76256911C>T	ENST00000529032.1	+	19	3344	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	C11orf30_ENST00000533248.1_Missense_Mutation_p.T1024I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Missense_Mutation_p.T1017I|C11orf30_ENST00000334736.3_Missense_Mutation_p.T1115I|C11orf30_ENST00000525919.1_Missense_Mutation_p.T1116I|C11orf30_ENST00000524767.1_Missense_Mutation_p.T1130I|C11orf30_ENST00000525038.1_Missense_Mutation_p.T1116I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1115					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGCCTCCCACAGTTACAAAG	0.463000													11	31					0	0	0.001368	0	0
SNCA	6622	broad.mit.edu	37	4	90647783	90647783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:90647783G>A	ENST00000394989.2	-	5	639	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SNCA_ENST00000336904.3_Missense_Mutation_p.A140V|SNCA_ENST00000420646.2_Missense_Mutation_p.A112V|SNCA_ENST00000508895.1_Missense_Mutation_p.A140V|SNCA_ENST00000505199.1_Missense_Mutation_p.A126V|SNCA_ENST00000394991.3_Missense_Mutation_p.A140V|SNCA_ENST00000394986.1_Missense_Mutation_p.A140V|SNCA_ENST00000506244.1_Missense_Mutation_p.A140V|SNCA_ENST00000345009.4_Missense_Mutation_p.A112V			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	140					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TATTTCTTAGGCTTCAGGTTC	0.403000													16	41					0	0	0.001523	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167182	130167182	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:130167182C>T	ENST00000373371.3	+	8	1151	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	SLC2A8_ENST00000373360.3_Silent_p.A354A|SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Silent_p.A91A	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	354						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CGCACGTGGCCATCTCGGCGC	0.667000													16	23					0	0	0.004007	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162491	90162491	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:90162491C>T	ENST00000564451.1	+	0	1844				TUBB8P7_ENST00000567960.1_RNA																							ATGGAATTCACCGAGGCCGAG	0.537000													16	73					0	0	0.006122	0	0
EDNRA	1909	broad.mit.edu	37	4	148453693	148453693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:148453693G>A	ENST00000324300.5	+	4	1099	c.584G>A	c.(583-585)gGa>gAa	p.G195E	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000339690.5_Silent_p.G152G|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000511804.1_5'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	195					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CGTGTTCAGGGAATTGGGATT	0.418000													31	65					0	0	0.002836	0	0
FAM9C	171484	broad.mit.edu	37	X	13061897	13061897	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:13061897C>T	ENST00000542843.1	-	2	222	c.12G>A	c.(10-12)aaG>aaA	p.K4K	FAM9C_ENST00000380625.3_Silent_p.K4K|FAM9C_ENST00000333995.3_Silent_p.K4K			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	4						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCAACTGGTCCTTGGCAGCCA	0.592000													7	2					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10309360	10309360	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:10309360C>T	ENST00000403437.2	-	21	2524	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	810	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTGTTACCTCCTTTGCAACA	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				21	19					0	0	0.003330	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738249	110738249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:110738249G>A	ENST00000331565.4	+	10	2019	c.1534G>A	c.(1534-1536)Gtc>Atc	p.V512I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	512					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.F511_R514del(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGTTGTTCGTCCAGCGCTC	0.602000													17	31					0	0	0.004990	0	0
UTP20	27340	broad.mit.edu	37	12	101748767	101748767	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:101748767C>T	ENST00000261637.4	+	41	5439	c.5265C>T	c.(5263-5265)tcC>tcT	p.S1755S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1755					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTAAAGAATCCGAGTGTATCA	0.433000													10	24					0	0	0.000673	0	0
CA6	765	broad.mit.edu	37	1	9011534	9011534	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:9011534G>A	ENST00000319474.2	+	3	336	c.312G>A	c.(310-312)ggG>ggA	p.G104G	CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377436.3_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	102					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGAGAAGGGGCGAAGCACA	0.527000													8	19					0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40424301	40424301	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:40424301C>T	ENST00000221347.6	-	4	1909	c.1902G>A	c.(1900-1902)gtG>gtA	p.V634V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	634	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCGAACTCCACAGCGTCAG	0.607000													48	80					0	0	0.003610	0	0
MPDZ	8777	broad.mit.edu	37	9	13150678	13150678	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:13150678G>A	ENST00000319217.7	-	25	3709	c.3462C>T	c.(3460-3462)ctC>ctT	p.L1154L	MPDZ_ENST00000381022.2_Silent_p.L1154L|MPDZ_ENST00000381015.4_Silent_p.L1154L|MPDZ_ENST00000447879.1_Silent_p.L1154L|MPDZ_ENST00000536827.1_Silent_p.L1154L|MPDZ_ENST00000546205.1_Silent_p.L1168L|MPDZ_ENST00000538841.1_Silent_p.L46L|MPDZ_ENST00000541718.1_Silent_p.L1154L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1154	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTCTCTCCAGAGTTCCACCC	0.388000													5	7					0	0	0.000602	0	0
ZNF335	63925	broad.mit.edu	37	20	44594306	44594306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44594306G>A	ENST00000322927.2	-	7	1163	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R200W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCAGCTTCCGGGGCCGGCCA	0.677000													19	23					0	0	0.007413	0	0
OMA1	115209	broad.mit.edu	37	1	58946769	58946769	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:58946769C>T	ENST00000371226.3	-	9	1556	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	481					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.T481T(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GAAAATGCTTCGTGCTGAGTT	0.333000													25	30					0	0	0.003954	0	0
DNAH3	55567	broad.mit.edu	37	16	21042461	21042461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:21042461G>A	ENST00000261383.3	-	37	5344	c.5345C>T	c.(5344-5346)tCa>tTa	p.S1782L	DNAH3_ENST00000415178.1_Missense_Mutation_p.S1782L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1782	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCAGAGAGTGAAGACGCTTG	0.463000													17	32					0	0	0.006122	0	0
SAG	6295	broad.mit.edu	37	2	234237135	234237135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234237135G>A	ENST00000409110.1	+	8	754	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SAG_ENST00000449594.2_Missense_Mutation_p.R41Q	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	175					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCTCCGTGCGATTACTGATC	0.592000													28	45					0	0	0.003755	0	0
CHD5	26038	broad.mit.edu	37	1	6203991	6203991	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:6203991C>T	ENST00000262450.3	-	13	2034	c.1934_splice	c.e13-1	p.R645_splice	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	645	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCATCAGCTCCCTGGGAAACG	0.652000													29	44					0	0	0.001512	0	0
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:22362994C>T	ENST00000397121.2	-	3	1842	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388000													11	13					0	0	0.000673	0	0
ZNF831	128611	broad.mit.edu	37	20	57828080	57828080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:57828080C>T	ENST00000371030.2	+	4	4075	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1359						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAATCACCTCCTTGTTGTGG	0.448000													13	22					0	0	0.001368	0	0
OR8J3	81168	broad.mit.edu	37	11	55904565	55904565	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55904565G>A	ENST00000301529.1	-	1	629	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTGTAATCATGGAAAAAACCA	0.358000													22	49					0	0	0.001882	0	0
ROS1	6098	broad.mit.edu	37	6	117737455	117737455	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:117737455T>C	ENST00000368508.3	-	3	392	c.194A>G	c.(193-195)aAc>aGc	p.N65S	ROS1_ENST00000368507.3_Missense_Mutation_p.N65S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	65					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCTACAGAGTTCCAAAAGTG	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	10					0	0	0.002450	0	0
ZNF425	155054	broad.mit.edu	37	7	148801972	148801972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:148801972G>A	ENST00000378061.2	-	4	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	331					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCGGACACTGGAAGGGCTTC	0.672000													8	15					0	0	0.003080	0	0
TEX11	56159	broad.mit.edu	37	X	69774522	69774522	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:69774522T>C	ENST00000395889.2	-	27	2469	c.2314A>G	c.(2314-2316)Aaa>Gaa	p.K772E	TEX11_ENST00000374333.2_Missense_Mutation_p.K757E|TEX11_ENST00000344304.3_Missense_Mutation_p.K772E|TEX11_ENST00000374320.2_Missense_Mutation_p.K447E	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	772							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCAAAAGTTTTAGTTTCTAAA	0.363000													8	5					0	0	0.004482	0	0
HADHB	3032	broad.mit.edu	37	2	26501646	26501646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:26501646C>T	ENST00000317799.5	+	8	711	c.607C>T	c.(607-609)Cga>Tga	p.R203*	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Nonsense_Mutation_p.R181*|HADHB_ENST00000537713.1_Nonsense_Mutation_p.R188*	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	203					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTAAATTCCGATTTAATTT	0.438000													16	44					0	0	0.007413	0	0
ZNF792	126375	broad.mit.edu	37	19	35449497	35449497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35449497G>A	ENST00000404801.1	-	4	1648	c.1262C>T	c.(1261-1263)cCt>cTt	p.P421L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P354L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACACTTGTAAGGTCTTTCTCC	0.483000													11	32					0	0	0.001368	0	0
DROSHA	29102	broad.mit.edu	37	5	31405818	31405818	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:31405818C>T	ENST00000511367.2	-	34	4204	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A	DROSHA_ENST00000442743.1_Silent_p.A1283A|DROSHA_ENST00000513349.1_Silent_p.A1283A|DROSHA_ENST00000344624.3_Silent_p.A1320A	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1320	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTCCCATTTCCGCTTGCTGAA	0.269000													4	2					0	0	0.001168	0	0
SKIDA1	387640	broad.mit.edu	37	10	21806505	21806505	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:21806505T>C	ENST00000449193.2	-	4	2499	c.247A>G	c.(247-249)Atc>Gtc	p.I83V	SKIDA1_ENST00000444772.3_Missense_Mutation_p.I83V	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TCCCGGGAGATGAGCGTGCAT	0.597000													9	9					0	0	0.004482	0	0
FAM135B	51059	broad.mit.edu	37	8	139144922	139144922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:139144922C>T	ENST00000395297.1	-	20	4305	c.4135G>A	c.(4135-4137)Ggc>Agc	p.G1379S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCGGCTCGGCCGATCAGGGTG	0.542000										HNSCC(54;0.14)			61	191					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179605281	179605281	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179605281T>C	ENST00000589042.1	-	48	12903	c.12679A>G	c.(12679-12681)Acc>Gcc	p.T4227A	TTN_ENST00000342175.6_Missense_Mutation_p.T4056A|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T3989A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3864A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T3910A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3910							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)			GCCACAGAGGTTAGATAAGAA	0.393000													19	33					0	0	0.001216	0	0
CHMP1A	5119	broad.mit.edu	37	16	89712397	89712397	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:89712397G>A	ENST00000253475.5	-	6	780	c.648C>T	c.(646-648)tgC>tgT	p.C216C	CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CAGCACAAAGGCAAGACGCGG	0.662000													14	23					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179440199	179440199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179440199G>A	ENST00000589042.1	-	326	70884	c.70660C>T	c.(70660-70662)Cct>Tct	p.P23554S	TTN_ENST00000342175.6_Missense_Mutation_p.P14681S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20986S|TTN_ENST00000359218.5_Missense_Mutation_p.P14614S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14489S|TTN_ENST00000591111.1_Missense_Mutation_p.P21913S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21913	Ig-like 119.						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)			TTGGGCTTAGGCCATGCCAGG	0.507000													63	119					0	0	0.003610	0	0
PIM3	415116	broad.mit.edu	37	22	50356710	50356710	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50356710C>T	ENST00000360612.4	+	6	1351	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	306					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTGTGACCTGCGGCTGTG	0.682000													4	11					0	0	0.000602	0	0
TIGIT	201633	broad.mit.edu	37	3	114026783	114026783	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:114026783G>A	ENST00000481065.1	+	5	3356	c.741G>A	c.(739-741)agG>agA	p.R247R	TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Silent_p.R180R|TIGIT_ENST00000383671.3_Silent_p.R180R			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	180					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTGACCTCAGGAGAAAATCAG	0.512000													21	36					0	0	0.001882	0	0
KIF17	57576	broad.mit.edu	37	1	21011438	21011438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:21011438C>T	ENST00000247986.2	-	10	2405	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	KIF17_ENST00000375044.1_Missense_Mutation_p.A599T|KIF17_ENST00000400463.3_Missense_Mutation_p.A699T|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	699					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCACCGGGGCCTGAGCCTCC	0.647000													3	6					0	0	0.004672	0	0
FPR3	2359	broad.mit.edu	37	19	52327119	52327119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:52327119G>A	ENST00000339223.4	+	2	297	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	FPR3_ENST00000595991.1_Missense_Mutation_p.G40R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	40					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTTGTCTTCGGGGTCCTGGG	0.552000													22	51					0	0	0.002299	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864142	144864142	+	Missense_Mutation	SNP	C	C	T	rs139404785		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:144864142C>T	ENST00000369359.4	-	39	6399	c.6361G>A	c.(6361-6363)Gac>Aac	p.D2121N	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D1985N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1985N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1879N|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D2070N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1985					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TACCTGGAGTCGTTTTCCTGG	0.468000			T	PDGFRB	MPD								64	524					0	0	0.003610	0	0
RAB5B	5869	broad.mit.edu	37	12	56385937	56385937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:56385937C>T	ENST00000360299.5	+	6	810	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RAB5B_ENST00000553116.1_Missense_Mutation_p.R197W|RAB5B_ENST00000448789.2_Missense_Mutation_p.R156W	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	197					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AGGCCGAAGCCGGGGTGTGGA	0.493000													18	50					0	0	0.002780	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943141	12943141	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:12943141C>T	ENST00000235349.5	-	2	145	c.75G>A	c.(73-75)ttG>ttA	p.L25L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	25										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGGCCAAAGCTTGGT	0.582000													49	91					0	0	0.003610	0	0
LELP1	149018	broad.mit.edu	37	1	153177279	153177279	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:153177279G>A	ENST00000368747.1	+	2	206	c.96G>A	c.(94-96)caG>caA	p.Q32Q		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	32	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAATGCCAGCCCAGCTGTT	0.498000													24	38					0	0	0.003330	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19285377	19285377	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:19285377T>C	ENST00000538714.1	+	3	224	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y74H	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	74	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGCAAGATACTATATAAAGTG	0.313000													40	40					0	0	0.001951	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997465	59997465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59997465C>T	ENST00000528394.1	-	1	63	c.64G>A	c.(64-66)Gga>Aga	p.G22R	MS4A4E_ENST00000425663.1_Missense_Mutation_p.G22R|MS4A4E_ENST00000427611.2_5'UTR|MS4A4E_ENST00000398986.2_Missense_Mutation_p.G22R|MS4A4E_ENST00000398984.2_Missense_Mutation_p.G22R|MS4A4E_ENST00000526086.1_Missense_Mutation_p.G22R					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						TCTATGTTTCCCAGCTGGGGC	0.443000													8	21					0	0	0.004482	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826509	124826509	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124826509C>T	ENST00000423114.2	-	10	1607	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L	SLC12A8_ENST00000314584.7_Silent_p.L260L|SLC12A8_ENST00000393469.4_Silent_p.L507L|SLC12A8_ENST00000430155.2_Silent_p.L308L|SLC12A8_ENST00000469902.1_Silent_p.L507L|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	507					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ATTTGAGGTCCAAGAGGAAGC	0.562000													34	52					0	0	0.003271	0	0
GPR141	353345	broad.mit.edu	37	7	37780295	37780295	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:37780295C>T	ENST00000447769.1	+	4	589	c.300C>T	c.(298-300)taC>taT	p.Y100Y	GPR141_ENST00000334425.1_Silent_p.Y100Y|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	100						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCACATGTACCTCACGTTCC	0.463000													22	33					0	0	0.001882	0	0
CACNB2	783	broad.mit.edu	37	10	18828384	18828384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:18828384G>A	ENST00000396576.2	+	13	2050	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	CACNB2_ENST00000324631.7_Missense_Mutation_p.E572K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.E524K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E518K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E479K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E548K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E520K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E322K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E544K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	572					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAGCCAAAGGAAGATTATTC	0.567000													6	9					0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152284875	152284875	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152284875G>A	ENST00000368799.1	-	3	2522	c.2487C>T	c.(2485-2487)tcC>tcT	p.S829S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	829	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)			CTGAGTGCCTGGAGTTGTCTC	0.567000									Ichthyosis				63	135					0	0	0.003610	0	0
GYS1	2997	broad.mit.edu	37	19	49473059	49473059	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49473059G>A	ENST00000323798.3	-	15	2059	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	GYS1_ENST00000544287.1_Silent_p.F254F|GYS1_ENST00000541188.1_Silent_p.F541F|GYS1_ENST00000263276.6_Silent_p.F557F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	621					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GCTCGTAGGTGAAGTGCTCTG	0.622000													15	23					0	0	0.004990	0	0
GCN1L1	10985	broad.mit.edu	37	12	120602154	120602154	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:120602154G>C	ENST00000300648.6	-	18	1846	c.1834C>G	c.(1834-1836)Ctc>Gtc	p.L612V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	612					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)					TGAGAACTGAGGACAGTCTTC	0.592000													21	36					0	0	0.002780	0	0
MRPS31	10240	broad.mit.edu	37	13	41323282	41323282	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:41323282T>A	ENST00000323563.6	-	6	986	c.950A>T	c.(949-951)aAt>aTt	p.N317I	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	317						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ACCTGCTTCATTGTTAATTGG	0.358000													30	48					0	0	0.002445	0	0
HKDC1	80201	broad.mit.edu	37	10	71020985	71020985	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:71020985G>A	ENST00000354624.5	+	16	2440	c.2307G>A	c.(2305-2307)ggG>ggA	p.G769G	HKDC1_ENST00000395086.2_Silent_p.G769G	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	769					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTCCGAGGGCAGATTTCAG	0.532000													13	24					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82474694	82474694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82474694C>T	ENST00000423517.2	-	13	14276	c.13939G>A	c.(13939-13941)Gga>Aga	p.G4647R	PCLO_ENST00000333891.8_Missense_Mutation_p.G4647R|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4535	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACATGAGATCCTTTTTCAACA	0.532000													9	20					0	0	0.006214	0	0
GATA1	2623	broad.mit.edu	37	X	48650336	48650336	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:48650336G>A	ENST00000376670.3	+	3	417	c.306G>A	c.(304-306)ggG>ggA	p.G102G	GATA1_ENST00000376665.3_Silent_p.G102G	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	102					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCAAGACGGGGCTCTACCCTG	0.607000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								14	4					0	0	0.001855	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923471	78923471	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78923471G>A	ENST00000261751.3	-	4	417	c.306C>T	c.(304-306)atC>atT	p.I102I	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Silent_p.I102I	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	102					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGATCCTCAGGATGTTCACAC	0.587000													13	38					0	0	0.006122	0	0
FAM135B	51059	broad.mit.edu	37	8	139160883	139160883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:139160883C>T	ENST00000395297.1	-	14	3498	c.3328G>A	c.(3328-3330)Gga>Aga	p.G1110R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1110										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACAGAAATCCTTCAATCTTC	0.358000										HNSCC(54;0.14)			9	20					0	0	0.000673	0	0
IGF1	3479	broad.mit.edu	37	12	102811752	102811752	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:102811752C>T	ENST00000456098.1	-	4	650	c.432G>A	c.(430-432)acG>acA	p.T144T	IGF1_ENST00000424202.2_Intron|IGF1_ENST00000392904.1_Silent_p.T144T|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000307046.8_Silent_p.T144T	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	144					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTGAGACTTCGTGTTCTTGT	0.463000													47	82					0	0	0.002522	0	0
ANK3	288	broad.mit.edu	37	10	61834949	61834949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:61834949G>A	ENST00000280772.1	-	37	5881	c.5690C>T	c.(5689-5691)tCc>tTc	p.S1897F	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1897	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCCTGACTGGAAGATAAAGA	0.448000													29	32					0	0	0.007291	0	0
MTR	4548	broad.mit.edu	37	1	237016305	237016305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237016305C>T	ENST00000366577.5	+	18	2264	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	MTR_ENST00000535889.1_Missense_Mutation_p.H624Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	624	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGATGATATCCATAAGGAACT	0.433000													12	48					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179582901	179582901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179582901C>T	ENST00000589042.1	-	86	25056	c.24832G>A	c.(24832-24834)Gga>Aga	p.G8278R	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7034R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7961R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7961	Ig-like 65.						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)			GCAGGTTCTCCAATGACTGCT	0.408000													20	16					0	0	0.001216	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			91	81					0	0	0.003610	0	0
PROX1	5629	broad.mit.edu	37	1	214170566	214170566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:214170566G>A	ENST00000366958.4	+	2	1296	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	PROX1_ENST00000261454.4_Missense_Mutation_p.E230K|PROX1_ENST00000498508.2_Missense_Mutation_p.E230K|PROX1_ENST00000435016.1_Missense_Mutation_p.E230K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	230					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCCCGAAAAGAACAGAAGCG	0.517000													11	21					0	0	0.001368	0	0
MYO7A	4647	broad.mit.edu	37	11	76910695	76910695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76910695G>A	ENST00000409709.3	+	35	4956	c.4684G>A	c.(4684-4686)Gga>Aga	p.G1562R	MYO7A_ENST00000409619.2_Splice_Site_p.G1513_splice|MYO7A_ENST00000458637.2_Splice_Site_p.G1524_splice	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1562	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCCTGCAGGGGAGCGAAAAC	0.632000													6	6					0	0	0.001984	0	0
RYR1	6261	broad.mit.edu	37	19	38990623	38990623	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:38990623C>T	ENST00000355481.4	+	45	7421	c.7290C>T	c.(7288-7290)atC>atT	p.I2430I	RYR1_ENST00000359596.3_Silent_p.I2430I|RYR1_ENST00000360985.3_Silent_p.I2430I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2430	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	CCGCCTTGATCGACCTGCTCG	0.612000													11	20					0	0	0.001855	0	0
SDK2	54549	broad.mit.edu	37	17	71431638	71431638	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:71431638G>A	ENST00000392650.3	-	9	1146	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	SDK2_ENST00000388726.3_Silent_p.A382A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	382	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGCATTGCGGGCGAAGCACT	0.642000													4	7					0	0	0.001168	0	0
COL6A5	256076	broad.mit.edu	37	3	130095498	130095498	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:130095498G>A	ENST00000265379.6	+	3	980	c.486G>A	c.(484-486)gtG>gtA	p.V162V	COL6A5_ENST00000432398.2_Silent_p.V162V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	162	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGACGGGGTGAAAATTATCT	0.507000													5	7					0	0	0.001168	0	0
TTLL11	158135	broad.mit.edu	37	9	124794087	124794087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:124794087G>A	ENST00000321582.5	-	3	1065	c.878C>T	c.(877-879)aCc>aTc	p.T293I	TTLL11_ENST00000373776.3_Missense_Mutation_p.T293I|TTLL11_ENST00000474723.1_Intron	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	293	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						ATTCTGCATGGTTCTCACTGC	0.498000													20	48					0	0	0.001882	0	0
INPP5D	3635	broad.mit.edu	37	2	234072371	234072371	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234072371A>C	ENST00000359570.5	+	14	1223	c.1223A>C	c.(1222-1224)aAg>aCg	p.K408T	INPP5D_ENST00000455936.2_Missense_Mutation_p.K172T|INPP5D_ENST00000450745.1_Missense_Mutation_p.K172T|INPP5D_ENST00000538935.1_Missense_Mutation_p.K407T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	420					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCCCTCCCAAGAAGATCACG	0.537000													39	49					0	0	0.003610	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665026	6665026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:6665026C>T	ENST00000326176.9	-	5	907	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	TNFSF14_ENST00000245912.3_Missense_Mutation_p.G176R|TNFSF14_ENST00000599359.1_Missense_Mutation_p.G212R	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	212					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCTTCTCCCCAGCCTCCAGG	0.632000													9	12					0	0	0.004482	0	0
MAST1	22983	broad.mit.edu	37	19	12958462	12958462	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:12958462C>T	ENST00000251472.4	+	6	564	c.525C>T	c.(523-525)atC>atT	p.I175I	MAST1_ENST00000591495.1_Silent_p.I171I	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	175					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACAACGAGATCGTGATGATGA	0.652000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34					0	0	0.002299	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	12					0	0	0.004672	0	0
HBG2	3048	broad.mit.edu	37	11	5275658	5275658	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:5275658T>G	ENST00000380259.2	-	7	1419	c.179A>C	c.(178-180)aAa>aCa	p.K60T	HBG2_ENST00000380252.1_Missense_Mutation_p.K50T|HBG2_ENST00000336906.4_Missense_Mutation_p.K60T					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTTGACTTTGGGGTTGCC	0.537000													18	52					0	0	0.001786	0	0
UNC13D	201294	broad.mit.edu	37	17	73839598	73839598	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:73839598G>A	ENST00000207549.4	-	2	499	c.120C>T	c.(118-120)atC>atT	p.I40I	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.I40I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	40					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGGAGGCTGGATCTGCAGAG	0.637000									Familial Hemophagocytic Lymphohistiocytosis				10	14					0	0	0.000978	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351226	36351226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:36351226C>T	ENST00000360202.5	+	6	899	c.701C>T	c.(700-702)tCg>tTg	p.S234L	KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S214L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	234	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane		p.S234L(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCTGCTTCGCCACACACT	0.602000													7	7					0	0	0.006214	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351209	40351209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:40351209G>A	ENST00000310169.2	+	4	815	c.676G>A	c.(676-678)Gat>Aat	p.D226N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	226					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCCTTACCCGGATGTCACATT	0.502000													101	174					0	0	0.003610	0	0
ZNF331	55422	broad.mit.edu	37	19	54080487	54080487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:54080487C>T	ENST00000253144.9	+	7	2006	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	ZNF331_ENST00000411977.2_Missense_Mutation_p.R225W|ZNF331_ENST00000513999.1_Missense_Mutation_p.R225W|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.R225W|ZNF331_ENST00000511154.1_Missense_Mutation_p.R225W|ZNF331_ENST00000512387.1_Missense_Mutation_p.R225W|ZNF331_ENST00000449416.1_Missense_Mutation_p.R225W	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAAGGCCTTTCGGCGTGGTGA	0.473000			T	?	follicular thyroid adenoma								20	37					0	0	0.001523	0	0
KIAA1109	84162	broad.mit.edu	37	4	123230543	123230543	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:123230543C>T	ENST00000264501.4	+	59	10549	c.10176C>T	c.(10174-10176)atC>atT	p.I3392I	KIAA1109_ENST00000388738.3_Silent_p.I3392I|KIAA1109_ENST00000455637.1_Silent_p.I3392I			Q2LD37	K1109_HUMAN	KIAA1109	3392					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTTTGTATCCGTTTTGCTG	0.383000													16	56					0	0	0.006122	0	0
NEK7	140609	broad.mit.edu	37	1	198266348	198266348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:198266348C>T	ENST00000367385.4	+	9	1118	c.776C>T	c.(775-777)cCt>cTt	p.P259L	NEK7_ENST00000538004.1_Missense_Mutation_p.P259L	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	259	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCACCTCTTCCTTCAGATCAC	0.338000													36	66					0	0	0.007835	0	0
GALNT13	114805	broad.mit.edu	37	2	155158006	155158006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:155158006C>T	ENST00000392825.3	+	9	1627	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.P354S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	354						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATACACTTTTCCTGGTGGCAC	0.438000													51	88					0	0	0.003610	0	0
PFKFB3	5209	broad.mit.edu	37	10	6255623	6255623	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:6255623C>T	ENST00000379775.4	+	2	444	c.114C>T	c.(112-114)atC>atT	p.I38I	PFKFB3_ENST00000536985.1_Silent_p.I18I|PFKFB3_ENST00000379782.3_Silent_p.I38I|PFKFB3_ENST00000317350.4_Silent_p.I38I|PFKFB3_ENST00000360521.2_Silent_p.I38I|PFKFB3_ENST00000379789.4_Silent_p.I18I|PFKFB3_ENST00000379785.1_Silent_p.I38I|PFKFB3_ENST00000540253.1_Silent_p.I52I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	38	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.I38I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCACCGTCATCGTCATGGTGG	0.582000													26	55					0	0	0.005443	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245115	100245115	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100245115C>T	ENST00000160382.5	-	8	817	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	237					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTAGCTTCTCCTTCTTCTTCC	0.607000													21	48					0	0	0.006320	0	0
OPRK1	4986	broad.mit.edu	37	8	54142013	54142013	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:54142013G>A	ENST00000265572.3	-	4	1284	c.987C>T	c.(985-987)ctC>ctT	p.L329L	OPRK1_ENST00000524278.1_Silent_p.L240L|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.L329L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	329					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GAAAGGCGTAGAGAATGGGAT	0.517000													8	33					0	0	0.003080	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964509	102964509	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:102964509C>T	ENST00000233954.1	+	9	1346	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	359					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGAGGCCACTCTGCTCTGGAG	0.373000													6	16					0	0	0.003080	0	0
SPATA20	64847	broad.mit.edu	37	17	48631791	48631791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48631791C>T	ENST00000006658.6	+	15	2257	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	SPATA20_ENST00000356488.4_Nonsense_Mutation_p.Q697*|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Nonsense_Mutation_p.Q653*	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	697					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTCTCAGCCCAGCAGCAGAC	0.652000													21	76					0	0	0.002780	0	0
FRY	10129	broad.mit.edu	37	13	32841345	32841345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:32841345C>T	ENST00000380250.3	+	55	8481	c.7985C>T	c.(7984-7986)tCg>tTg	p.S2662L	FRY_ENST00000542859.1_Missense_Mutation_p.S32L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCCCTCCCTCGCCCTTCTTC	0.537000													33	58					0	0	0.003271	0	0
CACNA1E	777	broad.mit.edu	37	1	181741226	181741226	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:181741226G>A	ENST00000526775.1	+	36	5106	c.4941G>A	c.(4939-4941)caG>caA	p.Q1647Q	CACNA1E_ENST00000367567.4_Silent_p.Q1273Q|CACNA1E_ENST00000357570.5_Silent_p.Q1617Q|CACNA1E_ENST00000360108.3_Silent_p.Q1647Q|CACNA1E_ENST00000358338.5_Silent_p.Q1598Q|CACNA1E_ENST00000367573.2_Silent_p.Q1666Q|CACNA1E_ENST00000367570.1_Silent_p.Q1666Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1666					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGCCTGGCAGGAGATTATGC	0.557000													14	26					0	0	0.001855	0	0
RAP1B	5908	broad.mit.edu	37	12	69047971	69047971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:69047971C>T	ENST00000250559.9	+	5	494	c.263C>T	c.(262-264)tCc>tTc	p.S88F	RAP1B_ENST00000393436.5_Missense_Mutation_p.S88F|RAP1B_ENST00000341355.5_Missense_Mutation_p.S88F|RAP1B_ENST00000378985.3_Missense_Mutation_p.S22F|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Missense_Mutation_p.S88F|RAP1B_ENST00000543393.1_Missense_Mutation_p.S22F|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.S88F|RAP1B_ENST00000537460.1_Missense_Mutation_p.S88F|RAP1B_ENST00000540209.1_Missense_Mutation_p.S69F|RAP1B_ENST00000539091.1_Missense_Mutation_p.S46F|RAP1B_ENST00000450214.2_Missense_Mutation_p.S46F	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	88					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ACAGCACAGTCCACATTTAAC	0.333000													41	124					0	0	0.002522	0	0
CACNA1S	779	broad.mit.edu	37	1	201031215	201031215	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201031215G>A	ENST00000362061.3	-	24	3136	c.2910C>T	c.(2908-2910)ggC>ggT	p.G970G	CACNA1S_ENST00000367338.3_Silent_p.G970G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	970					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTAGTAGTAGCCCCTGTGGC	0.617000													3	6					0	0	0.004672	0	0
SCN9A	6335	broad.mit.edu	37	2	167060887	167060887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:167060887G>A	ENST00000375387.4	-	25	4829	c.4489C>T	c.(4489-4491)Cca>Tca	p.P1497S	SCN9A_ENST00000409672.1_Missense_Mutation_p.P1485S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1496S|SCN9A_ENST00000303354.6_Missense_Mutation_p.P1497S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1496						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CGAGGAATTGGCTTTTGTGGC	0.313000													23	25					0	0	0.003330	0	0
ATP2A2	488	broad.mit.edu	37	12	110719652	110719652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:110719652G>A	ENST00000395494.2	+	1	621	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ATP2A2_ENST00000308664.6_Missense_Mutation_p.E20K|ATP2A2_ENST00000552636.1_Intron|ATP2A2_ENST00000539276.2_Missense_Mutation_p.E20K			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	20					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGGCGTCAACGAGAGTACGGG	0.706000													4	6					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9048354	9048354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9048354C>T	ENST00000397910.4	-	5	33480	c.33277G>A	c.(33277-33279)Ggg>Agg	p.G11093R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11095	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						CCTGATACCCCAGGTGAAACA	0.502000													13	25					0	0	0.001368	0	0
SLC8B1	80024	broad.mit.edu	37	12	113744325	113744325	+	Silent	SNP	G	G	A	rs142106014		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:113744325G>A	ENST00000552014.1	-	15	1982	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	SLC24A6_ENST00000546737.1_Silent_p.S433S|SLC24A6_ENST00000549069.1_Silent_p.S48S|SLC24A6_ENST00000202831.3_Silent_p.S489S|SLC24A6_ENST00000550047.1_Silent_p.S4S			Q6J4K2	NCKX6_HUMAN		489					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAAAGCAGGCGGAGAACGCCA	0.607000													8	12					0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82584294	82584294	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82584294T>A	ENST00000423517.2	-	5	6312	c.5975A>T	c.(5974-5976)aAg>aTg	p.K1992M	PCLO_ENST00000333891.8_Missense_Mutation_p.K1992M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1923					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTCTTATCTTTTGCTCTCT	0.378000													50	101					0	0	0.003610	0	0
DTX4	23220	broad.mit.edu	37	11	58949292	58949292	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:58949292G>C	ENST00000227451.3	+	2	396	c.292G>C	c.(292-294)Gac>Cac	p.D98H	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	98	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTGGGAGAACGACAATGGCTC	0.617000													15	46					0	0	0.002450	0	0
LAMA2	3908	broad.mit.edu	37	6	129802525	129802525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:129802525C>T	ENST00000421865.2	+	55	7739	c.7690C>T	c.(7690-7692)Ctt>Ttt	p.L2564F	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2564	Laminin G-like 3.		L -> P (in MDC1A).		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			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)		CGGCATCATTCTTTTGGGAAG	0.488000													31	18					0	0	0.001512	0	0
AIFM3	150209	broad.mit.edu	37	22	21332233	21332233	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:21332233C>T	ENST00000399167.2	+	16	1656	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	AIFM3_ENST00000405089.1_Silent_p.P478P|AIFM3_ENST00000440238.2_Silent_p.P472P|AIFM3_ENST00000333607.6_Silent_p.P472P|AIFM3_ENST00000335375.5_Silent_p.P460P|AIFM3_ENST00000399163.2_Silent_p.P472P|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCACCTTCCCCCTTGCCTGGA	0.597000													9	14					0	0	0.006214	0	0
LPHN3	23284	broad.mit.edu	37	4	62935858	62935858	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:62935858T>C	ENST00000512091.1	+	26	4441	c.3694T>C	c.(3694-3696)Tgt>Cgt	p.C1232R	LPHN3_ENST00000506700.1_Missense_Mutation_p.C1223R|LPHN3_ENST00000506746.1_Silent_p.S1316S|LPHN3_ENST00000508946.1_Silent_p.S1257S|LPHN3_ENST00000506720.1_Silent_p.S1325S|LPHN3_ENST00000514996.1_Silent_p.S1248S|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1300R|LPHN3_ENST00000508693.1_Missense_Mutation_p.C1343R|LPHN3_ENST00000545650.1_Silent_p.S1214S|LPHN3_ENST00000514591.1_Silent_p.S1214S|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1266R|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1334R|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1275R|LPHN3_ENST00000507625.1_Silent_p.S1273S|LPHN3_ENST00000511324.1_Missense_Mutation_p.C1291R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGGATACAAGTGTCATGGATA	0.433000													26	35					0	0	0.002096	0	0
LRP5	4041	broad.mit.edu	37	11	68216527	68216527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:68216527G>A	ENST00000294304.7	+	23	4943	c.4837G>A	c.(4837-4839)Gac>Aac	p.D1613N	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1613					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCCTGCACGGACTCATCCTG	0.537000													11	32					0	0	0.001368	0	0
DAGLA	747	broad.mit.edu	37	11	61488326	61488326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:61488326C>T	ENST00000257215.5	+	3	387	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	91					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACGGAGCCCCGTGACTCCAT	0.647000													18	24					0	0	0.001882	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545892	138545892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:138545892G>A	ENST00000440172.1	-	16	5288	c.5240C>T	c.(5239-5241)cCc>cTc	p.P1747L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1747L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1697L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1747						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACACTGCAGGGATTGTTGGC	0.587000			O	BRAF	pilocytic astrocytoma								16	43					0	0	0.007413	0	0
AKAP12	9590	broad.mit.edu	37	6	151671352	151671352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:151671352C>T	ENST00000402676.2	+	4	2066	c.1826C>T	c.(1825-1827)cCc>cTc	p.P609L	AKAP12_ENST00000354675.6_Missense_Mutation_p.P511L|AKAP12_ENST00000359755.5_Missense_Mutation_p.P504L|AKAP12_ENST00000253332.1_Missense_Mutation_p.P609L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	609	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTGTCACTCCCTGGGCATCA	0.507000													5	6					0	0	0.000602	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098036	9098036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:9098036G>A	ENST00000377424.4	-	11	1401	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	SLC2A5_ENST00000535586.1_Missense_Mutation_p.R293W|SLC2A5_ENST00000536305.1_Missense_Mutation_p.R349W	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	408					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCCGAGAGGACTGC	0.647000													12	16					0	0	0.000978	0	0
FAM115A	9747	broad.mit.edu	37	7	143573478	143573478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143573478G>A	ENST00000479870.1	-	2	432	c.224C>T	c.(223-225)cCc>cTc	p.P75L	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.P75L	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	75										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CAGGAGAAAGGGCGTGAGCTG	0.607000													7	17					0	0	0.004482	0	0
VPS18	57617	broad.mit.edu	37	15	41192210	41192210	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:41192210C>T	ENST00000220509.5	+	4	1533	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	398					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCGAGATGTCTGGCGCACCT	0.627000													19	61					0	0	0.002780	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997464	59997464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59997464C>T	ENST00000528394.1	-	1	64	c.65G>A	c.(64-66)gGa>gAa	p.G22E	MS4A4E_ENST00000425663.1_Missense_Mutation_p.G22E|MS4A4E_ENST00000427611.2_5'UTR|MS4A4E_ENST00000398986.2_Missense_Mutation_p.G22E|MS4A4E_ENST00000398984.2_Missense_Mutation_p.G22E|MS4A4E_ENST00000526086.1_Missense_Mutation_p.G22E					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						ATCTATGTTTCCCAGCTGGGG	0.448000													7	21					0	0	0.003080	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035470	52035470	+	RNA	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:52035470T>C	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000601034.1_RNA																							GGGTGACATGTTAGATCTTTG	0.423000													7	9					0	0	0.001984	0	0
LILRA1	11024	broad.mit.edu	37	19	55107160	55107160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55107160G>A	ENST00000251372.3	+	6	900	c.718G>A	c.(718-720)Gag>Aag	p.E240K	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	240	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGCCCCTGGGGAGAGCCTGAC	0.557000													23	60					0	0	0.004656	0	0
PHKA2	5256	broad.mit.edu	37	X	18963270	18963270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:18963270C>T	ENST00000379942.4	-	6	1209	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	182					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCCCACATTCCATAATCCTGG	0.473000													15	5					0	0	0.002450	0	0
DDX27	55661	broad.mit.edu	37	20	47852896	47852896	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:47852896C>T	ENST00000371764.4	+	14	1638	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	543	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCCTAATACCATCAAACATT	0.532000													25	84					0	0	0.005443	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033135	52033135	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:52033135G>A	ENST00000346477.3	-	4	875	c.807C>T	c.(805-807)agC>agT	p.S269S	SIGLEC6_ENST00000391797.3_Silent_p.S274S|SIGLEC6_ENST00000343300.4_Silent_p.S285S|SIGLEC6_ENST00000425629.3_Silent_p.S285S|SIGLEC6_ENST00000436458.1_Silent_p.S233S|SIGLEC6_ENST00000359982.4_Silent_p.S296S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	285	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCTGGAACCAGCTCAGGTGTG	0.612000													25	34					0	0	0.004656	0	0
LCA5	167691	broad.mit.edu	37	6	80223457	80223457	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:80223457G>A	ENST00000392959.1	-	4	803	c.190_splice	c.e4-1	p.A64_splice	LCA5_ENST00000467898.2_Splice_Site_p.A64_splice|LCA5_ENST00000369846.4_Splice_Site_p.A64_splice	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	64					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTTTCCGAGGGGCTAAAAAAG	0.438000													52	46					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47527636	47527636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:47527636G>A	ENST00000285039.7	-	5	900	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	201	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCATGATGGGACTGGATGCC	0.592000													17	24					0	0	0.004990	0	0
SAMD9	54809	broad.mit.edu	37	7	92730882	92730882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:92730882G>A	ENST00000379958.2	-	3	4798	c.4529C>T	c.(4528-4530)tCc>tTc	p.S1510F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1510						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)			CTGCCACAAGGAATTAATATC	0.358000													5	25					0	0	0.000602	0	0
CCDC13	152206	broad.mit.edu	37	3	42781285	42781285	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:42781285C>T	ENST00000310232.6	-	9	1088	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	335										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGAGGACATCCCGTTCACTGG	0.522000													21	39					0	0	0.001882	0	0
CSMD2	114784	broad.mit.edu	37	1	34401395	34401395	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:34401395G>A	ENST00000373381.4	-	4	854	c.678C>T	c.(676-678)agC>agT	p.S226S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	186	CUB 2.					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)				CCCACGTGGCGCTGTTCTCAG	0.632000													11	25					0	0	0.000673	0	0
RP1	6101	broad.mit.edu	37	8	55538107	55538107	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:55538107G>A	ENST00000220676.1	+	4	1813	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	555					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTACAAGTCAGAAGATGTTAG	0.343000													10	49					0	0	0.001368	0	0
CAP2	10486	broad.mit.edu	37	6	17551751	17551751	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:17551751C>T	ENST00000229922.2	+	12	1798	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	CAP2_ENST00000465994.1_Silent_p.Y358Y|CAP2_ENST00000489374.1_Silent_p.Y310Y|CAP2_ENST00000493172.1_Silent_p.Y162Y|CAP2_ENST00000378990.2_Silent_p.Y396Y	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	422	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GCCACATATACCTCAGTGAAG	0.398000													47	18					0	0	0.003610	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378971	204378971	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:204378971G>A	ENST00000367188.4	-	1	1948	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	523					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CAGACTGGGAGGAATTCTCTA	0.473000													13	24					0	0	0.004007	0	0
GMPPB	29925	broad.mit.edu	37	3	49759664	49759664	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:49759664C>T	ENST00000480687.1	-	8	884	c.768_splice	c.e8+1	p.V256_splice	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Splice_Site_p.V256_splice|GMPPB_ENST00000308388.6_Splice_Site_p.V256_splice			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	256					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGGCCTCACCACCAGCACGT	0.597000													17	36					0	0	0.006122	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:19378093G>A	ENST00000550708.1	+	1	572	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000													23	257					0	0	0.006999	0	0
FHDC1	85462	broad.mit.edu	37	4	153896077	153896077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:153896077C>T	ENST00000511601.1	+	12	1822	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P545L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	545					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCCTGGGTCCCTCTGCTGAC	0.706000													5	13					0	0	0.001168	0	0
OR4A15	81328	broad.mit.edu	37	11	55135918	55135918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55135918C>T	ENST00000314706.3	+	1	559	c.559C>T	c.(559-561)Caa>Taa	p.Q187*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCATTGGTTCAATTTCTCTT	0.423000													35	79					0	0	0.004289	0	0
SHC2	25759	broad.mit.edu	37	19	422286	422286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:422286G>A	ENST00000264554.6	-	11	1479	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	494	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCCGCCCGGCGGCTCATCCGG	0.701000													4	4					0	0	0.001168	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850220	78850220	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:78850220G>A	ENST00000286627.5	-	10	2224	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	KCNMA1_ENST00000404771.3_Silent_p.F424F|KCNMA1_ENST00000354353.5_Silent_p.F424F|KCNMA1_ENST00000404857.1_Silent_p.F424F|KCNMA1_ENST00000286628.8_Silent_p.F424F|KCNMA1_ENST00000372440.1_Silent_p.F424F|KCNMA1_ENST00000406533.3_Silent_p.F424F|KCNMA1_ENST00000372443.1_Silent_p.F424F	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	424	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTCCTTCAGGAAGTTGGAAA	0.532000													23	53					0	0	0.006320	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000													9	17					0	0	0.006214	0	0
ZNF792	126375	broad.mit.edu	37	19	35449498	35449498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35449498G>A	ENST00000404801.1	-	4	1647	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	ZNF792_ENST00000605484.1_Missense_Mutation_p.P354S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACTTGTAAGGTCTTTCTCCA	0.478000													11	29					0	0	0.001368	0	0
CLCN7	1186	broad.mit.edu	37	16	1505732	1505732	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:1505732G>A	ENST00000382745.4	-	11	1586	c.981_splice	c.e11+1	p.I327_splice	CLCN7_ENST00000448525.1_Splice_Site_p.I303_splice|CLCN7_ENST00000262318.8_Splice_Site_p.I303_splice	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	327						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGAACTTACGATCCTCCAGG	0.637000													13	33					0	0	0.003163	0	0
SCAF1	58506	broad.mit.edu	37	19	50150025	50150025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50150025C>T	ENST00000360565.3	+	6	540	c.416C>T	c.(415-417)cCc>cTc	p.P139L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	139					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GACAGAGATCCCATCCCTCTG	0.662000													8	5					0	0	0.006214	0	0
DZANK1	55184	broad.mit.edu	37	20	18396034	18396034	+	Silent	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:18396034G>T	ENST00000357236.4	-	12	1331	c.672C>A	c.(670-672)tcC>tcA	p.S224S	DZANK1_ENST00000262547.5_Silent_p.S338S|DZANK1_ENST00000329494.5_Silent_p.S340S|DZANK1_ENST00000377630.5_Silent_p.S165S|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	165						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ATCTGTAGCAGGAAATGGTCC	0.512000													16	26					8.28177e-16	1.08759e-15	0.007413	1	0
RREB1	6239	broad.mit.edu	37	6	7231372	7231372	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:7231372C>T	ENST00000379938.2	+	10	3577	c.3040C>T	c.(3040-3042)Ctg>Ttg	p.L1014L	RREB1_ENST00000334984.6_Silent_p.L1014L|RREB1_ENST00000349384.6_Silent_p.L1014L|RREB1_ENST00000379933.3_Silent_p.L1014L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1014	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTGTTCAGCTGGCGGTCCC	0.682000													9	22					0	0	0.004482	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765931	18765931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:18765931C>T	ENST00000304081.4	-	4	672	c.572G>A	c.(571-573)gGg>gAg	p.G191E	NT5C1B_ENST00000600945.1_Missense_Mutation_p.G251E|NT5C1B_ENST00000359846.2_Missense_Mutation_p.G251E|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G251E	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGGGTAGATCCCCCTGCGCTG	0.667000													4	15					0	0	0.001168	0	0
SMC6	79677	broad.mit.edu	37	2	17860180	17860180	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:17860180C>T	ENST00000448223.2	-	25	3125	c.2856G>A	c.(2854-2856)cgG>cgA	p.R952R	SMC6_ENST00000402989.1_Silent_p.R952R|SMC6_ENST00000381272.4_Silent_p.R978R|SMC6_ENST00000351948.4_Silent_p.R952R	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	952					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACAATAGGCCCGCTGAGATA	0.303000													10	37					0	0	0.001368	0	0
AKAP6	9472	broad.mit.edu	37	14	33014688	33014688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:33014688G>A	ENST00000280979.4	+	4	999	c.829G>A	c.(829-831)Gta>Ata	p.V277I	AKAP6_ENST00000557272.1_Missense_Mutation_p.V277I|AKAP6_ENST00000557354.1_Missense_Mutation_p.V277I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	277					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTACTTACGGTAGCTGCTGA	0.458000													37	83					0	0	0.001951	0	0
APC2	10297	broad.mit.edu	37	19	1465626	1465626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1465626G>A	ENST00000535453.1	+	14	4039	c.2326G>A	c.(2326-2328)Ggc>Agc	p.G776S	APC2_ENST00000238483.4_Missense_Mutation_p.G502S|APC2_ENST00000233607.2_Missense_Mutation_p.G776S|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	776					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCGATTCGGGCTGCTTTGA	0.716000													4	6					0	0	0.001984	0	0
AGO2	27161	broad.mit.edu	37	8	141595379	141595379	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:141595379G>A	ENST00000220592.5	-	2	166	c.54C>T	c.(52-54)atC>atT	p.I18I	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.I18I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CATATCCTTGGATGGGGGGCG	0.577000													51	34					0	0	0.003610	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979392	124979392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:124979392G>A	ENST00000368417.1	+	4	394	c.334G>A	c.(334-336)Gga>Aga	p.G112R	NKAIN2_ENST00000368416.1_Missense_Mutation_p.G112R|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.G97R	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	112						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GATGGAGAATGGACCAGGATG	0.473000													20	20					0	0	0.002780	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606445	82606445	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:82606445A>G	ENST00000518568.1	-	1	1964	c.763T>C	c.(763-765)Tat>Cat	p.Y255H		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	255						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CTGTATATATAAGAATTGACA	0.373000													41	13					0	0	0.002222	0	0
SRRD	402055	broad.mit.edu	37	22	26884359	26884359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:26884359C>T	ENST00000215917.6	+	4	528	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	172					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTTCTAGATTCCCAGAAGTCA	0.428000													50	68					0	0	0.003610	0	0
WDR48	57599	broad.mit.edu	37	3	39136169	39136169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:39136169G>A	ENST00000302313.5	+	19	1997	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	WDR48_ENST00000418020.1_Missense_Mutation_p.V101M|WDR48_ENST00000396258.3_Missense_Mutation_p.V575M|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.V382M	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	657					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTTCGAACAGTGAAACACTT	0.398000													30	55					0	0	0.002836	0	0
CARD11	84433	broad.mit.edu	37	7	2954959	2954959	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2954959C>T	ENST00000396946.4	-	21	3154	c.2751G>A	c.(2749-2751)gaG>gaA	p.E917E		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	917					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCGGACCCGCTCGTTGCTGT	0.587000			Mis		DLBCL								11	25					0	0	0.000978	0	0
MESP2	145873	broad.mit.edu	37	15	90321454	90321454	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:90321454C>T	ENST00000341735.3	+	2	1083	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	MESP2_ENST00000560219.1_Silent_p.A63A|MESP2_ENST00000558723.1_3'UTR	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	361					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CGGGCGCCGCCTTCCAGCTCA	0.657000													13	12					0	0	0.001855	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518132	161518132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:161518132C>T	ENST00000392142.4	+	16	3596	c.3448C>T	c.(3448-3450)Cgt>Tgt	p.R1150C	MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1146C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1150C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1146C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1150					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R1150C(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAACAGCCCCCGTCCTATGAA	0.448000													18	13					0	0	0.007413	0	0
LSM14A	26065	broad.mit.edu	37	19	34687573	34687573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:34687573C>T	ENST00000544216.3	+	3	397	c.320C>T	c.(319-321)tCc>tTc	p.S107F	LSM14A_ENST00000433627.5_Missense_Mutation_p.S107F|LSM14A_ENST00000540746.2_Missense_Mutation_p.S107F	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	107					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCATTCCAGTCCATGGGTTCT	0.433000													37	83					0	0	0.006230	0	0
GNB4	59345	broad.mit.edu	37	3	179123136	179123136	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:179123136A>C	ENST00000232564.3	-	9	1044	c.758T>G	c.(757-759)tTt>tGt	p.F253C	GNB4_ENST00000468623.1_Missense_Mutation_p.F253C	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	253					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ACGAAGGTCAAAGAGCCGGCA	0.418000													6	18					0	0	0.001168	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880054	39880054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:39880054C>T	ENST00000530275.1	+	1	3904	c.3709C>T	c.(3709-3711)Ctt>Ttt	p.L1237F	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1237										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGGAGGACCTTGATTCCCT	0.488000													7	12					0	0	0.001984	0	0
FAM47B	170062	broad.mit.edu	37	X	34961360	34961360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:34961360G>A	ENST00000329357.5	+	1	448	c.412G>A	c.(412-414)Gga>Aga	p.G138R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	138										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCCAATCTGGGAAAAGATAT	0.572000													22	6					0	0	0.003954	0	0
SLC25A11	8402	broad.mit.edu	37	17	4842173	4842173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:4842173G>A	ENST00000225665.7	-	3	686	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	SLC25A11_ENST00000544061.2_Missense_Mutation_p.P65S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	116					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAGCCAGGGGGAGTACCATCA	0.607000													14	8					0	0	0.001855	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570287	47570287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47570287G>A	ENST00000253048.5	-	15	3275	c.3238C>T	c.(3238-3240)Cct>Tct	p.P1080S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1080							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCAGCCGAGGGTCGGTGGGG	0.706000													9	14					0	0	0.000673	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045166	55045166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55045166G>A	ENST00000335056.3	+	3	324	c.286G>A	c.(286-288)Gga>Aga	p.G96R																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGATGTGTTGGAATTTACAA	0.547000													11	10					0	0	0.000978	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681566	125681566	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:125681566G>A	ENST00000373656.3	-	2	721	c.648C>T	c.(646-648)ccC>ccT	p.P216P	ZBTB26_ENST00000373654.1_Silent_p.P216P	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GGGAGTGCTGGGGCTCTGATG	0.378000													11	33					0	0	0.000673	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:22382594G>A	ENST00000328795.4	+	1	213	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000													53	169					0	0	0.003610	0	0
MCM5	4174	broad.mit.edu	37	22	35815967	35815967	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35815967G>A	ENST00000216122.4	+	14	1948	c.1794G>A	c.(1792-1794)agG>agA	p.R598R	MCM5_ENST00000382011.5_Silent_p.R555R	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	598				ARQHERDSDRR -> PVSTRGTVTA (in Ref. 3; BAA12176).	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGCACGAGAGGGACAGTGACC	0.642000													22	49					0	0	0.001882	0	0
OR2T4	127074	broad.mit.edu	37	1	248525508	248525508	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:248525508T>G	ENST00000366475.1	+	1	626	c.626T>G	c.(625-627)tTc>tGc	p.F209C		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCATCATTTCTTCTGTGAA	0.502000													41	78					0	0	0.001951	0	0
MAN1C1	57134	broad.mit.edu	37	1	26085109	26085109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:26085109G>A	ENST00000374332.4	+	6	1286	c.956G>A	c.(955-957)gGc>gAc	p.G319D	MAN1C1_ENST00000374329.1_Missense_Mutation_p.G90D|MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G139D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	319					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCCACAGCCGGCAGCAGCAGC	0.577000													8	21					0	0	0.004482	0	0
ZNF536	9745	broad.mit.edu	37	19	31039620	31039620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:31039620G>A	ENST00000355537.3	+	4	3241	c.3094G>A	c.(3094-3096)Gat>Aat	p.D1032N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAACGCAAAGATAACACCAT	0.552000													21	17					0	0	0.001216	0	0
STAB2	55576	broad.mit.edu	37	12	104142832	104142832	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:104142832G>A	ENST00000388887.2	+	59	6540	c.6336G>A	c.(6334-6336)aaG>aaA	p.K2112K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2112	EGF-like 16.				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						GCTGCCAGAAGGGATACAAAG	0.587000													18	24					0	0	0.004990	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494515	45494515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:45494515C>T	ENST00000541297.2	+	12	1862	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	CLPTM1_ENST00000337392.5_Missense_Mutation_p.S480F|CLPTM1_ENST00000546079.1_Missense_Mutation_p.S378F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	480					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CGGTACCTGTCCTGGATCCTC	0.647000													77	112					0	0	0.003610	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520256	62520256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62520256G>A	ENST00000394807.3	-	2	1156	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	344	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						Agctggggctggagcctggga	0.572000													17	29					0	0	0.006122	0	0
MOCS3	27304	broad.mit.edu	37	20	49576659	49576659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:49576659C>T	ENST00000244051.1	+	1	1297	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	427	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						ATCCTCCAGTCCTTATCAGCA	0.507000													25	51					0	0	0.003954	0	0
PRDM16	63976	broad.mit.edu	37	1	3334519	3334519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:3334519C>T	ENST00000378398.3	+	12	2901	c.2819C>T	c.(2818-2820)tCc>tTc	p.S940F	PRDM16_ENST00000378391.2_Missense_Mutation_p.S940F|PRDM16_ENST00000511072.1_Missense_Mutation_p.S941F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.S939F|PRDM16_ENST00000441472.2_Missense_Mutation_p.S939F|PRDM16_ENST00000514189.1_Missense_Mutation_p.S940F|PRDM16_ENST00000270722.5_Missense_Mutation_p.S940F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	940	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCAACGCTCTCCGACCCCATC	0.667000			T	EVI1	"""MDS, AML"""								9	15					0	0	0.004482	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43478431	43478431	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43478431G>A	ENST00000300213.4	+	3	491	c.249_splice	c.e3+1	p.Q83_splice	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	83	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;8.42e-07)		CGTCTCCACAGGTGGGCTTCA	0.532000													6	5					0	0	0.001984	0	0
OR6C2	341416	broad.mit.edu	37	12	55846588	55846588	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:55846588T>C	ENST00000322678.1	+	1	591	c.591T>C	c.(589-591)gtT>gtC	p.V197V	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AACAGATGGTTATACTTATGG	0.403000													34	61					0	0	0.004289	0	0
ADCK1	57143	broad.mit.edu	37	14	78397985	78397985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:78397985C>T	ENST00000238561.5	+	10	1430	c.1331C>T	c.(1330-1332)gCc>gTc	p.A444V	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A376V	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	451	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATTGAGGCCGCCCTGGGCACC	0.627000													14	13					0	0	0.002450	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998569	112998569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:112998569C>T	ENST00000271277.6	+	6	680	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	152						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGAAAAATCCCAAGTGAAA	0.418000													8	20					0	0	0.003080	0	0
OR10K2	391107	broad.mit.edu	37	1	158390228	158390228	+	Silent	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158390228T>G	ENST00000314902.2	-	1	428	c.429A>C	c.(427-429)ggA>ggC	p.G143G		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAGCCACTAGTCCCATACACA	0.488000													5	41					0	0	0.000673	0	0
ADRBK2	157	broad.mit.edu	37	22	26117358	26117358	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:26117358A>T	ENST00000324198.5	+	20	2091	c.1899A>T	c.(1897-1899)caA>caT	p.Q633H		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	633	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TTGTCTTGCAATGTGAGGTGA	0.308000													27	62					0	0	0.005443	0	0
TICAM1	148022	broad.mit.edu	37	19	4817290	4817290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:4817290G>A	ENST00000248244.5	-	2	1329	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	367	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGTAGATGAaggaggaggagg	0.522000													16	14					0	0	0.003163	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370428	38370428	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:38370428C>T	ENST00000322350.5	+	6	922	c.576C>T	c.(574-576)atC>atT	p.I192I	EGFLAM_ENST00000354891.3_Silent_p.I192I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	192	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGACCTCAATCCATGAGCGGA	0.488000													21	8					0	0	0.003330	0	0
MGA	23269	broad.mit.edu	37	15	42059094	42059094	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:42059094C>T	ENST00000219905.7	+	24	8995	c.8814C>T	c.(8812-8814)ctC>ctT	p.L2938L	MGA_ENST00000570161.1_Silent_p.L2938L|MGA_ENST00000389936.4_Silent_p.L2899L|MGA_ENST00000566586.1_Silent_p.L2729L|MGA_ENST00000545763.1_Silent_p.L2729L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2899						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGATTCCCTCCTTTCCAACA	0.458000													13	32					0	0	0.002450	0	0
RNF10	9921	broad.mit.edu	37	12	121009075	121009075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:121009075C>T	ENST00000325954.4	+	14	2584	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Missense_Mutation_p.P713L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	708					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGACTCTCCCTTCCCTTCC	0.527000													12	44					0	0	0.001368	0	0
PLCB4	5332	broad.mit.edu	37	20	9388564	9388564	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:9388564G>A	ENST00000378501.2	+	18	1627	c.1611_splice	c.e18-1	p.G538_splice	PLCB4_ENST00000278655.4_Splice_Site_p.G538_splice|PLCB4_ENST00000414679.2_Splice_Site_p.G550_splice|PLCB4_ENST00000334005.3_Splice_Site_p.G538_splice|PLCB4_ENST00000378493.1_Splice_Site_p.G538_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Splice_Site_p.G550_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	538					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTGCTTGTAGGGCCTGGTCAC	0.408000													23	46					0	0	0.005443	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120377	38120377	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:38120377G>C	ENST00000406386.3	+	7	2069	c.1814G>C	c.(1813-1815)cGg>cCg	p.R605P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	605					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					TGTGCCCAGCGGGACAATCCC	0.587000													11	61					0	0	0.000673	0	0
CARS2	79587	broad.mit.edu	37	13	111303383	111303383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:111303383G>A	ENST00000257347.4	-	10	1115	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	351					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGGCTCACCTGAGCGGTAGCT	0.562000													22	37					0	0	0.002299	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627950	234627950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234627950G>A	ENST00000373409.3	+	1	527	c.484G>A	c.(484-486)Gct>Act	p.A162T	UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GGCGGTGCTGGCTAAGTACCT	0.478000													36	89					0	0	0.005524	0	0
FAM115A	9747	broad.mit.edu	37	7	143573477	143573477	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143573477G>A	ENST00000479870.1	-	2	433	c.225C>T	c.(223-225)ccC>ccT	p.P75P	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.P75P	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	75										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TCAGGAGAAAGGGCGTGAGCT	0.612000													7	17					0	0	0.004482	0	0
MINK1	50488	broad.mit.edu	37	17	4789256	4789256	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:4789256C>T	ENST00000355280.6	+	8	886	c.690C>T	c.(688-690)gcC>gcT	p.A230A	MINK1_ENST00000453408.3_Silent_p.A230A|MINK1_ENST00000347992.7_Silent_p.A230A	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	230	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						CAGAGGGAGCCCCCCGTAAGT	0.567000													9	7					0	0	0.000673	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534094	90534094	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:90534094C>T	ENST00000602681.1	+	0	840																											CCATGCGGTTCATGAGTGCAG	0.537000													3	4					0	0	0.000248	0	0
ASB15	142685	broad.mit.edu	37	7	123257671	123257671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:123257671G>A	ENST00000451558.1	+	9	852	c.331G>A	c.(331-333)Gga>Aga	p.G111R	ASB15_ENST00000434204.1_Missense_Mutation_p.G111R|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.G111R|ASB15_ENST00000540573.1_Missense_Mutation_p.G111R|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.G111R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	111					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GACCTGTGATGGAGAAACACC	0.378000													22	50					0	0	0.005443	0	0
LRP5	4041	broad.mit.edu	37	11	68216526	68216526	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:68216526G>A	ENST00000294304.7	+	23	4942	c.4836G>A	c.(4834-4836)acG>acA	p.T1612T	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1612					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCCCTGCACGGACTCATCCT	0.542000													11	32					0	0	0.001368	0	0
NFATC4	4776	broad.mit.edu	37	14	24841745	24841745	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:24841745A>G	ENST00000413692.2	+	4	1628	c.1484A>G	c.(1483-1485)cAc>cGc	p.H495R	NFATC4_ENST00000556279.1_Missense_Mutation_p.H464R|NFATC4_ENST00000554344.1_Missense_Mutation_p.H362R|NFATC4_ENST00000556169.1_Missense_Mutation_p.H420R|NFATC4_ENST00000554050.1_Missense_Mutation_p.H432R|NFATC4_ENST00000424781.2_Missense_Mutation_p.H445R|NFATC4_ENST00000555590.1_Missense_Mutation_p.H445R|NFATC4_ENST00000554661.1_Missense_Mutation_p.H362R|NFATC4_ENST00000555453.1_Missense_Mutation_p.H420R|NFATC4_ENST00000539237.2_Missense_Mutation_p.H464R|NFATC4_ENST00000422617.3_Missense_Mutation_p.H420R|NFATC4_ENST00000553879.1_Missense_Mutation_p.H362R|NFATC4_ENST00000554966.1_Missense_Mutation_p.H445R|NFATC4_ENST00000250373.4_Missense_Mutation_p.H432R|NFATC4_ENST00000553469.1_Missense_Mutation_p.H464R|NFATC4_ENST00000554591.1_Missense_Mutation_p.H495R|NFATC4_ENST00000553708.1_Missense_Mutation_p.H432R|NFATC4_ENST00000557451.1_Missense_Mutation_p.H362R	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	432	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CACCGGGCCCACTATGAGACA	0.612000													8	30					0	0	0.004482	0	0
CFH	3075	broad.mit.edu	37	1	196659222	196659222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:196659222G>A	ENST00000367429.4	+	9	1429	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	CFH_ENST00000439155.2_Missense_Mutation_p.G397R|CFH_ENST00000359637.2_Missense_Mutation_p.G333R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	397	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGGAAAATGGATATAATCA	0.328000													4	14					0	0	0.000248	0	0
MYO1H	283446	broad.mit.edu	37	12	109853352	109853352	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109853352G>A	ENST00000310903.5	+	15	1582	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	MYO1H_ENST00000431443.2_Silent_p.K502K			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTGGTCCAAAGGGCCGAAAGA	0.517000													3	2					0	0	0.000602	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049943	36049943	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:36049943G>A	ENST00000379919.4	-	1	889	c.333C>T	c.(331-333)tcC>tcT	p.S111S	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	111					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCACCCAGAGGGACATGCTCC	0.577000													12	24					0	0	0.000978	0	0
EFCAB7	84455	broad.mit.edu	37	1	64038153	64038153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:64038153G>A	ENST00000371088.4	+	14	2102	c.1856G>A	c.(1855-1857)tGg>tAg	p.W619*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	619							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CGACAAGAATGGATATATTAT	0.239000													8	24					0	0	0.003080	0	0
BTNL8	79908	broad.mit.edu	37	5	180377111	180377111	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:180377111T>G	ENST00000340184.4	+	8	1276	c.1070T>G	c.(1069-1071)gTg>gGg	p.V357G	BTNL8_ENST00000505126.1_Missense_Mutation_p.V150G|BTNL8_ENST00000511704.1_Missense_Mutation_p.V241G|BTNL8_ENST00000400707.3_Missense_Mutation_p.V232G|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.V173G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	357	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCGTGGGAGTGTGCCGGGAT	0.502000													18	12					0	0	0.001216	0	0
RAPH1	65059	broad.mit.edu	37	2	204304926	204304926	+	Missense_Mutation	SNP	G	G	A	rs147887694		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:204304926G>A	ENST00000319170.5	-	14	3286	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.S1048L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	996					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTGTCCACCGAGGGTCTCTT	0.597000													26	59					0	0	0.007291	0	0
CACNA1E	777	broad.mit.edu	37	1	181767742	181767742	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:181767742C>T	ENST00000526775.1	+	46	6693	c.6528C>T	c.(6526-6528)gaC>gaT	p.D2176D	CACNA1E_ENST00000367567.4_Silent_p.D1802D|CACNA1E_ENST00000357570.5_Silent_p.D2189D|CACNA1E_ENST00000360108.3_Silent_p.D2219D|CACNA1E_ENST00000358338.5_Silent_p.D2127D|CACNA1E_ENST00000367573.2_Silent_p.D2238D|CACNA1E_ENST00000367570.1_Silent_p.D2195D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2238					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCACGAAGACTCCCACGCCT	0.632000													4	8					0	0	0.000248	0	0
FNDC3B	64778	broad.mit.edu	37	3	172048392	172048392	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:172048392C>A	ENST00000336824.4	+	13	1540	c.1441C>A	c.(1441-1443)Cca>Aca	p.P481T	FNDC3B_ENST00000415807.2_Missense_Mutation_p.P481T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.P481T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	481	Fibronectin type-III 3.			P -> L (in Ref. 2; AAQ88513).		endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCCTTCTGCACCAAGGCTGGT	0.493000													11	33					3.07112e-06	3.99475e-06	0.000978	1	0
KDM4D	55693	broad.mit.edu	37	11	94731693	94731693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:94731693C>T	ENST00000335080.5	+	3	1989	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	KDM4D_ENST00000536741.1_Missense_Mutation_p.P386L	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	386					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGCATTCCCCTTGGCCTATG	0.642000													6	11					0	0	0.001984	0	0
SORT1	6272	broad.mit.edu	37	1	109869750	109869750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:109869750G>A	ENST00000256637.6	-	13	1565	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	SORT1_ENST00000538502.1_Missense_Mutation_p.P366S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	503					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TACACATCTGGAACCATCACT	0.478000													91	191					0	0	0.003610	0	0
LARP4B	23185	broad.mit.edu	37	10	888923	888923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:888923G>A	ENST00000316157.3	-	6	635	c.595C>T	c.(595-597)Cac>Tac	p.H199Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	199	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTCTTGATGTGGTCGAGGTTA	0.388000													10	22					0	0	0.006214	0	0
POU6F2	11281	broad.mit.edu	37	7	39446295	39446295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:39446295C>T	ENST00000518318.2	+	6	1024	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	POU6F2_ENST00000559001.1_Intron|POU6F2_ENST00000403058.1_Missense_Mutation_p.L328F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	328	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCTCTCCAGTCTTCAGGGGGT	0.517000													16	26					0	0	0.003163	0	0
NOS1	4842	broad.mit.edu	37	12	117703233	117703233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:117703233C>T	ENST00000317775.6	-	12	2709	c.2024G>A	c.(2023-2025)gGg>gAg	p.G675E	NOS1_ENST00000338101.4_Missense_Mutation_p.G675E|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	675					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGGCAGCCCCCCCGGCAGCG	0.607000													8	5					0	0	0.003080	0	0
TMCO4	255104	broad.mit.edu	37	1	20066335	20066335	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:20066335G>A	ENST00000294543.6	-	12	1402	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	TMCO4_ENST00000375122.2_Silent_p.I347I|TMCO4_ENST00000375127.1_Silent_p.I387I	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	387						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGAGAGCAGGATGTGGGCCA	0.592000													15	31					0	0	0.002450	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752030	62752030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62752030G>A	ENST00000377871.3	-	1	399	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SLC22A6_ENST00000421062.2_Missense_Mutation_p.P45S|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P45S|SLC22A6_ENST00000458333.2_Missense_Mutation_p.P45S	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	45					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGTGGGTAGGGATGGCAGCA	0.667000													3	14					0	0	0.004672	0	0
TICAM2	353376	broad.mit.edu	37	5	114916925	114916925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:114916925G>A	ENST00000427199.2	-	2	470	c.29C>T	c.(28-30)tCc>tTc	p.S10F	TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000408996.4_Intron|TMED7-TICAM2_ENST00000282382.4_Intron	NM_021649.6	NP_067681.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		AAGAGGGCAGGAATTTATTTT	0.373000													22	20					0	0	0.003330	0	0
MYO7A	4647	broad.mit.edu	37	11	76870559	76870559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76870559C>T	ENST00000409709.3	+	10	1342	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	MYO7A_ENST00000409619.2_Missense_Mutation_p.S346F|MYO7A_ENST00000458637.2_Missense_Mutation_p.S357F|MYO7A_ENST00000409893.1_Missense_Mutation_p.S357F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	357	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCTGCATCCCTGCTTGAG	0.572000													27	36					0	0	0.001786	0	0
JAK1	3716	broad.mit.edu	37	1	65301109	65301109	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:65301109G>A	ENST00000342505.4	-	24	3587	c.3339C>T	c.(3337-3339)cgC>cgT	p.R1113R		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1113	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGCACGGCAGGCGTTTTCCTT	0.423000			Mis		ALL								19	66					0	0	0.001882	0	0
ANKRD27	84079	broad.mit.edu	37	19	33130265	33130265	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:33130265G>A	ENST00000306065.4	-	12	1271	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	ANKRD27_ENST00000587352.1_Silent_p.P371P	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	371	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATCTTACAGGGGGTTTAGCAG	0.507000													13	32					0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237758937	237758937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237758937G>A	ENST00000366574.2	+	34	4893	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1510K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1524K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1526	4 X approximate repeats.|B30.2/SPRY 3.				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)			CAATGGCAAGGAACTGAGCAC	0.498000													8	11					0	0	0.000978	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430721	25430721	+	RNA	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:25430721G>T	ENST00000424208.1	+	0	582					NR_003305.1																						ACTGAGGTGTGGTGAGTCCAT	0.582000													34	46					9.65021e-13	1.26296e-12	0.002096	1	0
IGKV1-8	28942	broad.mit.edu	37	2	89292083	89292083	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:89292083G>A	ENST00000495489.1	-	0	242																											AGGAGCTTAGGGGCTTTCCCT	0.502000													18	26					0	0	0.001882	0	0
ACE	1636	broad.mit.edu	37	17	61571793	61571793	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:61571793G>A	ENST00000577647.1	+	11	1665	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	ACE_ENST00000428043.1_Silent_p.G1114G|ACE_ENST00000413513.3_Silent_p.G540G|ACE_ENST00000290866.4_Silent_p.G1114G|ACE_ENST00000421982.2_Silent_p.G360G|ACE_ENST00000290863.6_Silent_p.G540G|ACE_ENST00000490216.2_Silent_p.G540G			P12821	ACE_HUMAN	angiotensin I converting enzyme	1114	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTGACCCAGGGGCCAAGTTCC	0.542000													11	48					0	0	0.001368	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931870	11931870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:11931870G>A	ENST00000571133.1	-	9	1319	c.1247C>T	c.(1246-1248)cCa>cTa	p.P416L	RSL1D1_ENST00000542106.1_Missense_Mutation_p.P196L	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	416					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tgcagcttttggggtctcaga	0.473000													95	176					0	0	0.003610	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47585801	47585801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:47585801C>T	ENST00000371917.4	+	9	1177	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	393					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGTGAAGGCCCTCCAGACCC	0.527000													29	40					0	0	0.002445	0	0
ATP8A1	10396	broad.mit.edu	37	4	42558049	42558049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:42558049G>A	ENST00000381668.5	-	16	1580	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	ATP8A1_ENST00000264449.10_Missense_Mutation_p.S435L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	450					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCCAAACTGTGAGTTCTGCCT	0.328000													7	12					0	0	0.001984	0	0
TET1	80312	broad.mit.edu	37	10	70446316	70446316	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70446316C>T	ENST00000373644.4	+	11	5465	c.5256C>T	c.(5254-5256)ccC>ccT	p.P1752P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1752					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCCTGTTCCCCGTTCTGGAA	0.502000													21	44					0	0	0.001523	0	0
LOC102724332	102724332	broad.mit.edu	37	2	89161525	89161525	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:89161525C>T	ENST00000430694.1	-	0	593																											AAGCTCAACTCCCTTTTCGAG	0.463000													5	6					0	0	0.000602	0	0
ERO1LB	56605	broad.mit.edu	37	1	236399106	236399106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:236399106G>A	ENST00000354619.5	-	8	857	c.656C>T	c.(655-657)cCt>cTt	p.P219L		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	219					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGGCGCCAGAGGATTTAAAGG	0.299000													13	15					0	0	0.006122	0	0
AOAH	313	broad.mit.edu	37	7	36657942	36657942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:36657942G>A	ENST00000431169.1	-	10	1012	c.712C>T	c.(712-714)Cca>Tca	p.P238S	AOAH_ENST00000258749.5_Missense_Mutation_p.P238S|AOAH_ENST00000535891.1_Missense_Mutation_p.P206S	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	238					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCATCTTTTGGATCGACACCC	0.318000													17	26					0	0	0.001216	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944138	50944138	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50944138G>A	ENST00000357701.5	+	8	625	c.572_splice	c.e8-1	p.E192_splice		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	192					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCGCCAGGGAGGTGGTGGA	0.572000													4	14					0	0	0.001168	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793642	140793642	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140793642A>T	ENST00000398610.2	+	1	900	c.900A>T	c.(898-900)aaA>aaT	p.K300N	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTAAACAAATATACTGGAG	0.378000													5	4					0	0	0.000602	0	0
PLCB1	23236	broad.mit.edu	37	20	8713958	8713958	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:8713958C>T	ENST00000378641.3	+	19	2437	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	PLCB1_ENST00000338037.6_Silent_p.F654F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.F654F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	654	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCCAGAGTTCATGAGGAGGC	0.423000													20	36					0	0	0.001216	0	0
TRPM3	80036	broad.mit.edu	37	9	73152011	73152011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:73152011G>A	ENST00000377110.2	-	25	4225	c.3982C>T	c.(3982-3984)Cca>Tca	p.P1328S	TRPM3_ENST00000357533.2_Missense_Mutation_p.P1332S|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1355S|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1187S|TRPM3_ENST00000377106.1_Missense_Mutation_p.P1200S|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1187S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1177S|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1187S|TRPM3_ENST00000358082.3_Missense_Mutation_p.P1190S|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1200S|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1190S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1353						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATTAAGGTTGGAGAAGTTGGG	0.453000													25	93					0	0	0.003954	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491137	64491137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:64491137G>A	ENST00000355086.3	+	15	2319	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D536N|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D576N	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	599	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAGATTTAACGATCTGATTTC	0.423000													15	20					0	0	0.006122	0	0
RYR3	6263	broad.mit.edu	37	15	34030784	34030784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:34030784C>T	ENST00000389232.4	+	50	7719	c.7649C>T	c.(7648-7650)tCc>tTc	p.S2550F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2550F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2550	4 X approximate repeats.				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)		GACTCGCTCTCCCATAAGGTA	0.468000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	44					0	0	0.003330	0	0
OTOF	9381	broad.mit.edu	37	2	26702454	26702454	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:26702454C>T	ENST00000272371.2	-	17	2106	c.1980G>A	c.(1978-1980)ggG>ggA	p.G660G	OTOF_ENST00000403946.3_Silent_p.G660G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	660					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)					CTTCCTCATCCCCCGGCTCCT	0.637000													11	25					0	0	0.000978	0	0
MAPK10	5602	broad.mit.edu	37	4	87115524	87115524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:87115524C>T	ENST00000359221.3	-	3	557	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.E11K|MAPK10_ENST00000449047.2_5'UTR|RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000395161.2_Missense_Mutation_p.E11K|MAPK10_ENST00000395169.3_5'UTR|MAPK10_ENST00000395166.1_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	11					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AATGTTGGTTCACTGCAGTAG	0.333000													45	120					0	0	0.003610	0	0
NOTCH3	4854	broad.mit.edu	37	19	15273333	15273333	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15273333C>T	ENST00000263388.2	-	32	5931	c.5856G>A	c.(5854-5856)gtG>gtA	p.V1952V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1952					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.V1952V(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGTGGCTTCCACGTTGTTCA	0.587000													10	47					0	0	0.001855	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795735	111795735	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:111795735C>T	ENST00000452346.2	+	16	1971	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	TMPRSS7_ENST00000419127.1_Silent_p.P530P			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	656	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGTCAGATCCCACACCATGGA	0.453000													32	68					0	0	0.006230	0	0
DST	667	broad.mit.edu	37	6	56480971	56480971	+	Missense_Mutation	SNP	C	C	T	rs143148236		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:56480971C>T	ENST00000370765.6	-	24	7401	c.7294G>A	c.(7294-7296)Gat>Aat	p.D2432N	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1751					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCAAAGAATCAGCAAGTTCT	0.438000													22	23					0	0	0.004656	0	0
ABCA8	10351	broad.mit.edu	37	17	66925719	66925719	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:66925719G>A	ENST00000269080.2	-	7	1059	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	ABCA8_ENST00000586539.1_Silent_p.L308L|ABCA8_ENST00000430352.2_Silent_p.L308L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	308						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATCCATACAGGAGAAAGAGG	0.378000													21	63					0	0	0.002299	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497553	31497553	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:31497553C>T	ENST00000330498.3	+	5	550	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	177					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCTATGCCTCCGTCATCGCGC	0.602000													20	25					0	0	0.002299	0	0
HFM1	164045	broad.mit.edu	37	1	91845776	91845776	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:91845776C>T	ENST00000370425.3	-	8	989	c.891G>A	c.(889-891)agG>agA	p.R297R	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	297	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCACAAAATTCCTATCTGTGT	0.299000													24	58					0	0	0.003954	0	0
HSPA6	3310	broad.mit.edu	37	1	161495847	161495847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:161495847C>T	ENST00000309758.4	+	1	1812	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	467					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGTGGCATCCCTCCTGCCCC	0.567000													26	31					0	0	0.005443	0	0
NAA40	79829	broad.mit.edu	37	11	63714427	63714427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:63714427G>A	ENST00000377793.4	+	3	208	c.107G>A	c.(106-108)gGa>gAa	p.G36E	NAA40_ENST00000539656.1_Missense_Mutation_p.G36E|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.G15E|NAA40_ENST00000456907.2_Intron	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	36							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						CCACAGCTTGGAGACCCTCTG	0.512000													24	43					0	0	0.002096	0	0
NCAM1	4684	broad.mit.edu	37	11	113103520	113103520	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:113103520C>T	ENST00000316851.7	+	11	1476	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.F501F|NCAM1_ENST00000533760.1_Silent_p.F374F	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	502	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCTTGGAATTCATCCTTGTTC	0.498000													15	11					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141625795	141625795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:141625795G>A	ENST00000389484.3	-	26	5178	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1403					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTCAATGCGAGGAAAATTT	0.353000										TSP Lung(27;0.18)			20	26					0	0	0.007413	0	0
ZNF79	7633	broad.mit.edu	37	9	130206352	130206352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:130206352G>A	ENST00000342483.5	+	5	779	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ZNF79_ENST00000543471.1_Missense_Mutation_p.E101K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCCCTTTCTGAAGCTTCATT	0.483000													26	44					0	0	0.007291	0	0
C9orf50	375759	broad.mit.edu	37	9	132377835	132377835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:132377835G>A	ENST00000372478.4	-	4	1009	c.808C>T	c.(808-810)Cct>Tct	p.P270S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	270										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				ACCCGGAAAGGGCAACGCTGC	0.662000													16	42					0	0	0.006122	0	0
TENM2	57451	broad.mit.edu	37	5	167489217	167489217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:167489217G>A	ENST00000519204.1	+	6	1217	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	TENM2_ENST00000545108.1_Missense_Mutation_p.D488N|TENM2_ENST00000520394.1_Missense_Mutation_p.D256N|TENM2_ENST00000403607.2_Missense_Mutation_p.D321N|TENM2_ENST00000518659.1_Missense_Mutation_p.D488N					teneurin transmembrane protein 2																		CCTCGGGAAGGACGCTCTCTT	0.443000													15	25					0	0	0.001216	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105912847	105912847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:105912847C>T	ENST00000393359.2	-	4	1430	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G335E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	335					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCGGGCTCCTTTTGCTAA	0.393000													20	64					0	0	0.001882	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829419	146829419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:146829419G>A	ENST00000361727.3	+	8	1682	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	389					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R389Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTGCCCGGACGGCTTAACCAG	0.468000										HNSCC(39;0.1)			22	39					0	0	0.002299	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416935	57416935	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:57416935G>A	ENST00000565912.1	+	2	3777	c.1071G>A	c.(1069-1071)gtG>gtA	p.V357V	CX3CL1_ENST00000006053.6_Silent_p.V395V|CX3CL1_ENST00000563383.1_Silent_p.V401V			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	395					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ATGTCCTGGTGCCCGTGTGAA	0.592000													31	76					0	0	0.004878	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43478432	43478432	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43478432G>A	ENST00000300213.4	+	3	491		c.e3+1		EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Splice_Site	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1						cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;8.42e-07)		GTCTCCACAGGTGGGCTTCAC	0.532000													6	5					0	0	0.001984	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450714	85450714	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:85450714T>G	ENST00000393217.2	+	8	2204	c.2143T>G	c.(2143-2145)Tgc>Ggc	p.C715G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	715										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCAGAAAAATGCCATGAAAA	0.383000													72	152					0	0	0.003610	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790091	137790091	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:137790091C>T	ENST00000242375.3	+	5	537	c.495C>T	c.(493-495)tcC>tcT	p.S165S	AKR1D1_ENST00000432161.1_Silent_p.S165S|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	165					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGTGAAATCCCTGGGAGTGT	0.483000													33	81					0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179477694	179477694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179477694G>A	ENST00000589042.1	-	265	49978	c.49754C>T	c.(49753-49755)tCt>tTt	p.S16585F	TTN_ENST00000342175.6_Missense_Mutation_p.S7712F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14017F|TTN_ENST00000359218.5_Missense_Mutation_p.S7645F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S7520F|TTN_ENST00000591111.1_Missense_Mutation_p.S14944F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14944	Fibronectin type-III 20.						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)			AATGACATAAGACTCAATCTT	0.483000													11	27					0	0	0.000673	0	0
ZNF19	7567	broad.mit.edu	37	16	71509998	71509998	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:71509998A>G	ENST00000288177.5	-	6	707	c.452T>C	c.(451-453)gTt>gCt	p.V151A	ZNF19_ENST00000565637.1_Missense_Mutation_p.V109A|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.V81A|ZNF19_ENST00000564230.1_Missense_Mutation_p.V151A|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	151						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GATTCTTGGAACCTTTCCTTG	0.458000													12	16					0	0	0.001368	0	0
ZNF233	353355	broad.mit.edu	37	19	44777201	44777201	+	Silent	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44777201A>C	ENST00000391958.2	+	5	515	c.388A>C	c.(388-390)Agg>Cgg	p.R130R	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCAAGGCAAGAGGTCCAAGTT	0.378000													13	26					0	0	0.001855	0	0
LLGL1	3996	broad.mit.edu	37	17	18143971	18143971	+	Silent	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:18143971A>G	ENST00000316843.4	+	17	2382	c.2286A>G	c.(2284-2286)gcA>gcG	p.A762A		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	762					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGCCGGCAGCAGCAGTGGGTG	0.662000													18	21					0	0	0.004990	0	0
SCN4A	6329	broad.mit.edu	37	17	62050004	62050004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:62050004C>T	ENST00000578147.1	-	1	274	c.198G>A	c.(196-198)atG>atA	p.M66I	SCN4A_ENST00000435607.1_Missense_Mutation_p.M66I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	66					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTCCGTAGATCATGGGTAGGT	0.602000													9	6					0	0	0.004482	0	0
CASC4	113201	broad.mit.edu	37	15	44581414	44581414	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:44581414C>T	ENST00000299957.6	+	1	486	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	CASC4_ENST00000360824.3_Silent_p.L63L|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000345795.2_Silent_p.L63L	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	63						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCGCGGGCGGCTGGAAAAGCG	0.642000													9	22					0	0	0.000673	0	0
RRP9	9136	broad.mit.edu	37	3	51969227	51969227	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:51969227G>A	ENST00000232888.6	-	11	1093	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	340					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CGTCCGCGCCGGACACCATGT	0.632000													16	37					0	0	0.007413	0	0
NLRP7	199713	broad.mit.edu	37	19	55451105	55451105	+	Missense_Mutation	SNP	G	G	A	rs143169084	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55451105G>A	ENST00000446217.1	-	6	1568	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	NLRP7_ENST00000448121.2_Missense_Mutation_p.S361L|NLRP7_ENST00000592784.1_Missense_Mutation_p.S361L|NLRP7_ENST00000340844.2_Missense_Mutation_p.S361L|NLRP7_ENST00000328092.5_Missense_Mutation_p.S361L|NLRP7_ENST00000590030.1_Missense_Mutation_p.S361L|NLRP7_ENST00000588756.1_Missense_Mutation_p.S361L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	361	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGCGGGGGCCGAGCCCAGCTG	0.632000													7	28					0	0	0.003080	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422478	89422478	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:89422478G>A	ENST00000359595.3	-	4	730	c.516C>T	c.(514-516)tcC>tcT	p.S172S	HAPLN3_ENST00000562889.1_Silent_p.S234S	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	172	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCCCGTTGGGGGACTGGTAAG	0.652000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24					0	0	0.006122	0	0
CNTN6	27255	broad.mit.edu	37	3	1363427	1363427	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:1363427G>A	ENST00000446702.2	+	8	1482	c.855G>A	c.(853-855)ccG>ccA	p.P285P	CNTN6_ENST00000539053.1_Silent_p.P213P|CNTN6_ENST00000350110.2_Silent_p.P285P			Q9UQ52	CNTN6_HUMAN	contactin 6	285	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGAAATCCCGAACTTCCAAC	0.453000													32	32					0	0	0.003271	0	0
PPFIA2	8499	broad.mit.edu	37	12	81769697	81769697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:81769697C>T	ENST00000550584.2	-	9	1304	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	PPFIA2_ENST00000443686.3_Missense_Mutation_p.E238K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E184K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E263K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E319K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E337K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E337K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E319K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E337K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	263										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTCTTTCTTCCATATCTTCC	0.313000													15	36					0	0	0.004990	0	0
KCNMA1	3778	broad.mit.edu	37	10	78637626	78637626	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:78637626T>C	ENST00000404771.3	-	30	3853	c.3738A>G	c.(3736-3738)gaA>gaG	p.E1246E	KCNMA1_ENST00000372440.1_3'UTR|KCNMA1_ENST00000372443.1_3'UTR			Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	0					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CATTATCCGGTTCATCTGTAA	0.398000													6	8					0	0	0.001984	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597674	47597674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47597674G>A	ENST00000253048.5	-	3	390	c.353C>T	c.(352-354)tCg>tTg	p.S118L	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	118							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCTTCTTCGACCTCCTTTT	0.557000													84	166					0	0	0.003610	0	0
BCORL1	63035	broad.mit.edu	37	X	129147484	129147484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:129147484C>T	ENST00000540052.1	+	3	780	c.736C>T	c.(736-738)Cca>Tca	p.P246S	BCORL1_ENST00000303743.5_Missense_Mutation_p.P246S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P246S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P246S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	246	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACTTCGGTTCCAGCTCCTTC	0.617000													42	13					0	0	0.003610	0	0
ZNF611	81856	broad.mit.edu	37	19	53209551	53209551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53209551G>A	ENST00000543227.1	-	6	1031	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF611_ENST00000595798.1_Missense_Mutation_p.H184Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.H253Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.H253Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.H184Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.H184Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCTAAATGGGGTATCTGG	0.378000													14	94					0	0	0.004990	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997106	62997106	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62997106G>A	ENST00000306494.6	-	1	18	c.19C>T	c.(19-21)Cta>Tta	p.L7L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	7					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACTTGATCTAGGAGGTCCTGA	0.423000													19	22					0	0	0.007413	0	0
CACNA1S	779	broad.mit.edu	37	1	201010664	201010664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201010664C>T	ENST00000362061.3	-	41	5328	c.5102G>A	c.(5101-5103)gGa>gAa	p.G1701E	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1682E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1701					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGGGCTCGTCCTCTGGTAGC	0.562000													10	14					0	0	0.001368	0	0
GLI2	2736	broad.mit.edu	37	2	121747777	121747777	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:121747777C>T	ENST00000452319.1	+	14	4347	c.4287C>T	c.(4285-4287)ccC>ccT	p.P1429P	GLI2_ENST00000361492.4_Silent_p.P1429P|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1429					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGTGCCTCCCCAGCCGCCTC	0.652000													13	24					0	0	0.003163	0	0
URM1	81605	broad.mit.edu	37	9	131151621	131151621	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:131151621C>T	ENST00000452446.1	+	4	332	c.270C>T	c.(268-270)gcC>gcT	p.A90A	URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR	NM_001135947.2	NP_001129419.1	Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CTCCCCCAGCCCCTGCCCTTG	0.607000													13	34					0	0	0.002450	0	0
NEBL	10529	broad.mit.edu	37	10	21074700	21074700	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:21074700C>T	ENST00000377122.4	-	28	3417	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NEBL_ENST00000417816.2_Silent_p.A263A|NEBL_ENST00000377159.4_Silent_p.A229A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	1007	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.A263A(1)|p.A1007A(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGTAATTCGCTGGGAGCA	0.413000													15	11					0	0	0.004990	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883317	131883317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:131883317C>T	ENST00000359827.3	-	13	3627	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D889N			Q9HCM2	PLXA4_HUMAN	plexin A4	889	IPT/TIG 1.					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						GAGGCGATGTCGCGAAATTCC	0.562000													27	35					0	0	0.001512	0	0
PSMB8	5696	broad.mit.edu	37	6	32810461	32810461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:32810461G>A	ENST00000374881.2	-	3	672	c.383C>T	c.(382-384)gCc>gTc	p.A128V	PSMB8_ENST00000374882.3_Missense_Mutation_p.A132V|PSMB8_ENST00000395339.3_Missense_Mutation_p.A108V	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						GCATTCCTTGGCCAGCAGGCG	0.517000													10	6					0	0	0.001368	0	0
ATM	472	broad.mit.edu	37	11	108139249	108139249	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:108139249C>T	ENST00000278616.4	+	18	3136	c.2751C>T	c.(2749-2751)tcC>tcT	p.S917S	ATM_ENST00000452508.2_Silent_p.S917S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	917					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATACTGTGTCCTTTAGGGCAG	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			44	19					0	0	0.003610	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	93					0	0	0.000602	0	0
KIF21B	23046	broad.mit.edu	37	1	200978053	200978053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:200978053C>T	ENST00000332129.2	-	3	607	c.291G>A	c.(289-291)atG>atA	p.M97I	KIF21B_ENST00000461742.2_Missense_Mutation_p.M97I|KIF21B_ENST00000422435.2_Missense_Mutation_p.M97I|KIF21B_ENST00000360529.5_Missense_Mutation_p.M97I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	97	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGCCAGTGCCCATGGTGTACG	0.632000													28	48					0	0	0.006320	0	0
CASC5	57082	broad.mit.edu	37	15	40901050	40901050	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:40901050C>T	ENST00000346991.5	+	5	531	c.141C>T	c.(139-141)tcC>tcT	p.S47S	CASC5_ENST00000399668.2_Silent_p.S47S|CASC5_ENST00000527044.1_Silent_p.S47S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	47	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAGGAATCCAATGCTTTGA	0.313000													5	19					0	0	0.000602	0	0
ZADH2	284273	broad.mit.edu	37	18	72914262	72914262	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:72914262A>T	ENST00000322342.3	-	2	532	c.243T>A	c.(241-243)taT>taA	p.Y81*	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	81						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGCCTGCTGAATAGTTGATGT	0.443000													14	13					0	0	0.001855	0	0
BRINP3	339479	broad.mit.edu	37	1	190067482	190067482	+	Missense_Mutation	SNP	C	C	T	rs149389696		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:190067482C>T	ENST00000367462.3	-	8	2198	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R554Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		656						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCCCAGGTTCCGGGAAGGGTC	0.448000													30	55					0	0	0.001786	0	0
GPC5	2262	broad.mit.edu	37	13	92101071	92101071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:92101071G>A	ENST00000377067.3	+	2	592	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	74						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGGAAGATGGAGGAGAGATA	0.418000													24	37					0	0	0.002780	0	0
NR4A3	8013	broad.mit.edu	37	9	102590451	102590451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:102590451G>A	ENST00000330847.1	+	2	204	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	NR4A3_ENST00000395097.2_Missense_Mutation_p.G43S|NR4A3_ENST00000338488.4_Missense_Mutation_p.G43S			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	43					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CATGGACCTTGGCAGCACTGA	0.577000			T	EWSR1	extraskeletal myxoid chondrosarcoma								19	29					0	0	0.006122	0	0
JKAMP	51528	broad.mit.edu	37	14	59951795	59951795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:59951795G>A	ENST00000554271.1	+	1	533	c.7G>A	c.(7-9)Gga>Aga	p.G3R	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Intron|JKAMP_ENST00000261247.9_Intron|JKAMP_ENST00000556985.1_Intron|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000356057.5_Missense_Mutation_p.G3R			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	0					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGAAATGAAAGGAGAAATTCA	0.413000													34	52					0	0	0.004878	0	0
CHD7	55636	broad.mit.edu	37	8	61735300	61735300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:61735300C>T	ENST00000423902.2	+	12	3675	c.3196C>T	c.(3196-3198)Ccc>Tcc	p.P1066S	CHD7_ENST00000525508.1_Missense_Mutation_p.P1066S|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1066	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCAAAGATCCCCAGGTAAA	0.403000													62	98					0	0	0.003610	0	0
SCAF1	58506	broad.mit.edu	37	19	50156133	50156133	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50156133G>A	ENST00000360565.3	+	7	2611	c.2487G>A	c.(2485-2487)cgG>cgA	p.R829R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	829					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTTCTTCCCGGAAGGTGAAGC	0.677000													8	13					0	0	0.006214	0	0
ICT1	3396	broad.mit.edu	37	17	73015831	73015831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:73015831C>T	ENST00000301585.5	+	3	273	c.260C>T	c.(259-261)cCt>cTt	p.P87L		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					AGTAGTGGTCCTGGGGGGCAG	0.438000													19	16					0	0	0.002299	0	0
CLN6	54982	broad.mit.edu	37	15	68504096	68504096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:68504096G>A	ENST00000249806.5	-	4	560	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	CLN6_ENST00000564752.1_Missense_Mutation_p.H135Y|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.H167Y	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	135					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGCAGGCGGTGGTTGACAGAG	0.607000													30	61					0	0	0.002096	0	0
DNAJA4	55466	broad.mit.edu	37	15	78567844	78567844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78567844G>A	ENST00000394855.3	+	6	966	c.738G>A	c.(736-738)atG>atA	p.M246I	DNAJA4_ENST00000343789.3_Missense_Mutation_p.M217I|DNAJA4_ENST00000446172.2_Missense_Mutation_p.M190I|DNAJA4_ENST00000394852.3_Missense_Mutation_p.M217I	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	217					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TCATAGGTATGAAAGATGGGC	0.413000													16	20					0	0	0.004990	0	0
SORCS3	22986	broad.mit.edu	37	10	106971008	106971008	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:106971008G>A	ENST00000369701.3	+	17	2602	c.2375_splice	c.e17+1	p.G792_splice	SORCS3_ENST00000369699.4_Splice_Site_p.G78_splice	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	792						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AACAGCACTGGGTAAGTAAAA	0.463000													5	7					0	0	0.000602	0	0
OR4N2	390429	broad.mit.edu	37	14	20295941	20295941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20295941G>A	ENST00000568211.1	+	1	334	c.334G>A	c.(334-336)Gga>Aga	p.G112R	OR4N2_ENST00000315947.1_Missense_Mutation_p.G112R			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGGGGAGGGATTACTCCT	0.512000													40	61					0	0	0.006999	0	0
ADAM22	53616	broad.mit.edu	37	7	87759715	87759715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:87759715C>T	ENST00000398204.4	+	10	1089	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	ADAM22_ENST00000265727.7_Missense_Mutation_p.R256W|ADAM22_ENST00000398209.3_Missense_Mutation_p.R256W|ADAM22_ENST00000315984.7_Missense_Mutation_p.R256W|ADAM22_ENST00000398201.4_Missense_Mutation_p.R256W|ADAM22_ENST00000439864.1_Missense_Mutation_p.R256W	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	256	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAAAAAACATCGGCTTTCCGT	0.368000													20	31					0	0	0.001882	0	0
SNAP25	6616	broad.mit.edu	37	20	10273538	10273538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:10273538G>A	ENST00000304886.2	+	5	380	c.172G>A	c.(172-174)Gat>Aat	p.D58N	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	58	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGAACAACTCGATCGTGTCGA	0.398000													13	35					0	0	0.001368	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661507	77661507	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:77661507G>A	ENST00000296043.6	+	5	3134	c.2181G>A	c.(2179-2181)ggG>ggA	p.G727G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	727					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCCGAGGGGAGGACCGGTG	0.672000													12	38					0	0	0.002450	0	0
MAPK7	5598	broad.mit.edu	37	17	19285703	19285703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:19285703C>T	ENST00000308406.5	+	5	2473	c.2087C>T	c.(2086-2088)gCc>gTc	p.A696V	MAPK7_ENST00000395604.3_Missense_Mutation_p.A696V|MAPK7_ENST00000299612.7_Missense_Mutation_p.A557V|MAPK7_ENST00000395602.4_Missense_Mutation_p.A696V|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	696	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCCAGACGCCGGGGGAGCC	0.637000													20	15					0	0	0.002780	0	0
TLE6	79816	broad.mit.edu	37	19	2987015	2987015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:2987015C>T	ENST00000246112.4	+	7	521	c.320C>T	c.(319-321)cCc>cTc	p.P107L	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_5'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	0					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCTGGGACGCCCCAGCAGGTG	0.632000													9	7					0	0	0.004482	0	0
CRB1	23418	broad.mit.edu	37	1	197297627	197297627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197297627C>T	ENST00000367400.3	+	2	281	c.146C>T	c.(145-147)tCa>tTa	p.S49L	CRB1_ENST00000538660.1_Missense_Mutation_p.S49L|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.S49L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	49	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAAGATTTTTCAAAAGACAAT	0.363000													15	19					0	0	0.002450	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676996	37676996	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:37676996G>A	ENST00000532828.2	-	5	1694	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	ZNF585B_ENST00000312908.5_Silent_p.L69L|ZNF585B_ENST00000531805.1_Silent_p.L426L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTGTAATGAGATTTGACC	0.403000													24	53					0	0	0.002445	0	0
ZNF415	55786	broad.mit.edu	37	19	53619642	53619642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53619642C>T	ENST00000594011.1	-	4	318	c.60G>A	c.(58-60)tgG>tgA	p.W20*	ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000597748.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000597503.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000600574.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.W20*|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000599261.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.W20*|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000595813.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000595193.1_Nonsense_Mutation_p.W20*			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCAGGCATTTCCACTCATCTT	0.438000													12	36					0	0	0.000978	0	0
SCML4	256380	broad.mit.edu	37	6	108042121	108042121	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:108042121G>A	ENST00000369022.2	-	5	794	c.585C>T	c.(583-585)tcC>tcT	p.S195S	SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Silent_p.S224S|SCML4_ENST00000369025.2_Silent_p.S11S|SCML4_ENST00000369020.3_Silent_p.S253S			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGTTAAAGGTGGAGGCGGAGG	0.587000													19	10					0	0	0.001882	0	0
CGNL1	84952	broad.mit.edu	37	15	57838369	57838369	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:57838369G>A	ENST00000281282.5	+	18	3783	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1235						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCAGAGGGAGCTGGAGGAGC	0.557000													6	4					0	0	0.001168	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022807	73022807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73022807C>T	ENST00000263674.3	+	1	3474	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1042	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGAGGCCAAGCCCCCTGAGGC	0.642000													5	19					0	0	0.001168	0	0
SIRT1	23411	broad.mit.edu	37	10	69651312	69651312	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:69651312G>A	ENST00000212015.6	+	4	995	c.942_splice	c.e4+1	p.K314_splice	SIRT1_ENST00000432464.1_Splice_Site_p.K19_splice|SIRT1_ENST00000406900.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	314	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGTTTGCAAAGGTACTATGAA	0.378000													50	97					0	0	0.003610	0	0
CAMK2G	818	broad.mit.edu	37	10	75607101	75607101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75607101G>A	ENST00000423381.1	-	10	824	c.701C>T	c.(700-702)cCa>cTa	p.P234L	CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P234L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P234L|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P234L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P234L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P234L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P234L	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	234	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TTCTGGTGATGGGAACTAAGG	0.488000													14	33					0	0	0.002450	0	0
DBX1	120237	broad.mit.edu	37	11	20177857	20177857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:20177857G>A	ENST00000524983.2	-	4	1223	c.935C>T	c.(934-936)tCg>tTg	p.S312L	DBX1_ENST00000227256.3_Missense_Mutation_p.S351L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	312					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GTGCGCGGGCGAGGGGGGCAG	0.701000													13	11					0	0	0.001368	0	0
C12orf42	374470	broad.mit.edu	37	12	103700110	103700110	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:103700110C>T	ENST00000548048.1	-	8	568	c.72G>A	c.(70-72)agG>agA	p.R24R	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Silent_p.R91R|C12orf42_ENST00000548883.1_Silent_p.R91R			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	91										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATTTTGAGTCCTTTCTGGAA	0.373000													7	7					0	0	0.003080	0	0
NLRP7	199713	broad.mit.edu	37	19	55441917	55441917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55441917C>T	ENST00000446217.1	-	11	3246	c.2844G>A	c.(2842-2844)tgG>tgA	p.W948*	NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W892*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W920*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W920*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W892*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.W920*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.W920*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	920							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACAGAGAATCCACAATCCAC	0.438000													27	56					0	0	0.007291	0	0
MYO7A	4647	broad.mit.edu	37	11	76910664	76910664	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76910664G>A	ENST00000409709.3	+	35	4925	c.4653G>A	c.(4651-4653)gcG>gcA	p.A1551A	MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000458637.2_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1551	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGACCCCGGCGGGGCCCTGTT	0.637000													4	5					0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158612669	158612669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158612669C>T	ENST00000368148.3	-	32	4720	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1514K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1514					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGATCCATTCTTCCAGCTCC	0.453000													38	75					0	0	0.002522	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581911	96581911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:96581911G>A	ENST00000456556.1	-	37	2440	c.2356C>T	c.(2356-2358)Cgg>Tgg	p.R786W	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GGTTTTTTCCGAGAAGACACT	0.343000													10	7					0	0	0.001368	0	0
PLRG1	5356	broad.mit.edu	37	4	155467365	155467365	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:155467365C>T	ENST00000499023.2	-	5	440	c.313_splice	c.e5-1	p.G105_splice	PLRG1_ENST00000393905.2_Splice_Site_p.G105_splice|PLRG1_ENST00000302078.5_Splice_Site_p.G96_splice	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	105						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CAAAGCAACCCCTATTAAAAT	0.348000													7	15					0	0	0.003080	0	0
ADD2	119	broad.mit.edu	37	2	70890603	70890603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:70890603G>A	ENST00000264436.3	-	16	2579	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	ADD2_ENST00000407644.2_Missense_Mutation_p.P712L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	712	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAGGAAGGAGGGGGTTCGGAA	0.537000													39	89					0	0	0.003610	0	0
MROH9	80133	broad.mit.edu	37	1	170941014	170941014	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:170941014G>A	ENST00000367759.4	+	8	760	c.606G>A	c.(604-606)cgG>cgA	p.R202R	MROH9_ENST00000367758.3_Silent_p.R202R	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ACATTGCACGGTGTCAGAACG	0.453000													45	94					0	0	0.003610	0	0
ATF6	22926	broad.mit.edu	37	1	161821621	161821621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:161821621C>T	ENST00000367942.3	+	11	1496	c.1429C>T	c.(1429-1431)Ctc>Ttc	p.L477F	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	477					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AACAGAGTCTCTCAGGTGAGT	0.413000													21	57					0	0	0.002299	0	0
MTMR11	10903	broad.mit.edu	37	1	149905813	149905813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:149905813G>A	ENST00000439741.2	-	8	956	c.706C>T	c.(706-708)Cct>Tct	p.P236S	MTMR11_ENST00000406732.3_Missense_Mutation_p.P208S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.P164S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	236	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATTCGGTTAGGGACCCAGAAG	0.478000													32	59					0	0	0.003755	0	0
OR5M9	390162	broad.mit.edu	37	11	56230376	56230376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56230376C>T	ENST00000279791.1	-	1	501	c.502G>A	c.(502-504)Gga>Aga	p.G168R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCAAAGTTTCCACAGAAGTAT	0.428000													10	22					0	0	0.000673	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190433	50190433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:50190433G>A	ENST00000335999.6	-	8	1411	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	400	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTAAGGAAGGGGAGGGGCCCC	0.627000													4	19					0	0	0.000602	0	0
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237806719C>T	ENST00000366574.2	+	48	7631	c.7314C>T	c.(7312-7314)atC>atT	p.I2438I	RYR2_ENST00000542537.1_Silent_p.I2422I|RYR2_ENST00000360064.6_Silent_p.I2436I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2438	4 X approximate repeats.				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	p.I2436M(1)		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)			TTATCAGCATCGCTTTTCAGA	0.438000													28	46					0	0	0.006320	0	0
NPTXR	23467	broad.mit.edu	37	22	39222537	39222537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:39222537G>A	ENST00000333039.2	-	3	1189	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	356	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					ATGGGCTCATGGCCCGCCTCT	0.662000													29	37					0	0	0.002445	0	0
ZNF142	7701	broad.mit.edu	37	2	219508735	219508735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:219508735G>A	ENST00000411696.2	-	7	3283	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	ZNF142_ENST00000449707.1_Missense_Mutation_p.A835V			P52746	ZN142_HUMAN	zinc finger protein 142	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGCGGAAGGCTCGCCCCTC	0.607000													29	77					0	0	0.006320	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378576	31378576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:31378576C>T	ENST00000297142.3	-	2	629	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	103					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTC	0.473000													42	108					0	0	0.003610	0	0
AVPR1B	553	broad.mit.edu	37	1	206224448	206224448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:206224448C>T	ENST00000367126.4	+	1	473	c.8C>T	c.(7-9)tCt>tTt	p.S3F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	3					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCATGGATTCTGGGCCTCTG	0.612000													73	146					0	0	0.003610	0	0
AMPH	273	broad.mit.edu	37	7	38431555	38431555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:38431555C>T	ENST00000356264.2	-	19	1887	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	AMPH_ENST00000428293.2_Missense_Mutation_p.E516K|AMPH_ENST00000325590.5_Missense_Mutation_p.E516K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	558					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.E558K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATAGTTATTTCGTTTTCTCCT	0.597000													11	26					0	0	0.000978	0	0
MEPCE	56257	broad.mit.edu	37	7	100030696	100030696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100030696C>T	ENST00000310512.2	+	2	2214	c.1826C>T	c.(1825-1827)cCt>cTt	p.P609L	MEPCE_ENST00000414441.1_Missense_Mutation_p.P140L	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	609	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCTACGCCCTGGGGGCATC	0.582000													13	36					0	0	0.002450	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691411	12691411	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:12691411T>C	ENST00000593682.1	-	1	378	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	ZNF490_ENST00000311437.6_Missense_Mutation_p.K493R																							ATGAATTCTTTTGTGTACTTT	0.423000													23	49					0	0	0.001882	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966312	41966312	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:41966312C>T	ENST00000298919.7	+	10	1339	c.951C>T	c.(949-951)ccC>ccT	p.P317P	PDZRN4_ENST00000539469.2_Silent_p.P319P|PDZRN4_ENST00000402685.2_Silent_p.P577P			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	577							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCGAGGACCCCAATAGCACAT	0.498000													8	9					0	0	0.004482	0	0
C19orf24	55009	broad.mit.edu	37	19	1278891	1278891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1278891G>A	ENST00000469144.1	+	3	391	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	C19orf24_ENST00000409293.4_3'UTR			Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24	64						cytoplasm|extracellular region part|integral to membrane							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|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)		CTGGCCCCGGGGCTGGTCTCA	0.687000													19	12					0	0	0.001216	0	0
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:78010800G>A	ENST00000435339.2	+	2	839	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	LPAR4_ENST00000373301.2_Missense_Mutation_p.R145Q	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463000													24	23					0	0	0.003954	0	0
TPTE2	93492	broad.mit.edu	37	13	19997240	19997240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:19997240G>A	ENST00000400230.2	-	20	1575	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	TPTE2_ENST00000255310.6_Missense_Mutation_p.P434S|TPTE2_ENST00000457266.2_Missense_Mutation_p.P400S|TPTE2_ENST00000400103.2_Missense_Mutation_p.P400S|TPTE2_ENST00000382977.4_Missense_Mutation_p.P511S|TPTE2_ENST00000390680.2_Missense_Mutation_p.P434S|TPTE2_ENST00000382975.4_Missense_Mutation_p.P471S|TPTE2_ENST00000382978.1_Missense_Mutation_p.P471S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	511	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCAAATTCTGGTGGATAAATT	0.363000													18	18					0	0	0.001882	0	0
LRRC7	57554	broad.mit.edu	37	1	70452014	70452014	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:70452014C>T	ENST00000310961.5	+	11	1195	c.777C>T	c.(775-777)gcC>gcT	p.A259A	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.A254A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	254						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GATGTGAAGCCCTTGAGGACC	0.338000													11	12					0	0	0.000978	0	0
RPTOR	57521	broad.mit.edu	37	17	78919516	78919516	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:78919516C>T	ENST00000306801.3	+	26	3437	c.3075C>T	c.(3073-3075)gtC>gtT	p.V1025V	RPTOR_ENST00000544334.2_Silent_p.V867V|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1025					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCCCGGCGTCCCCTCTGTGG	0.562000													45	13					0	0	0.003610	0	0
NFATC2	4773	broad.mit.edu	37	20	50048876	50048876	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:50048876T>C	ENST00000371564.3	-	9	2669	c.2450A>G	c.(2449-2451)aAc>aGc	p.N817S	NFATC2_ENST00000414705.1_Missense_Mutation_p.N797S|NFATC2_ENST00000396009.3_Missense_Mutation_p.N817S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	817					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCTGCTGGTTGGTGGGTGA	0.657000													28	43					0	0	0.002445	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477575	35477575	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:35477575G>A	ENST00000357182.4	-	8	1205	c.978C>T	c.(976-978)acC>acT	p.T326T	ZMYM6_ENST00000487874.1_Silent_p.T326T|ZMYM6_ENST00000373340.2_Silent_p.T326T|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	326					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGATTGCTGAGGTTTTACAAC	0.373000													7	30					0	0	0.004482	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090285	23090285	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:23090285G>A	ENST00000390311.2	+	0	262																											AGGCCCTCAGGGATCCCTGAG	0.498000													9	29					0	0	0.006214	0	0
OPRK1	4986	broad.mit.edu	37	8	54142187	54142187	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:54142187C>T	ENST00000265572.3	-	4	1110	c.813G>A	c.(811-813)agG>agA	p.R271R	OPRK1_ENST00000524278.1_Silent_p.R182R|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.R271R	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	271					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTCTGGTGATCCTACGCAGGT	0.572000													13	38					0	0	0.002450	0	0
STK11	6794	broad.mit.edu	37	19	1220485	1220485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1220485C>T	ENST00000326873.7	+	4	1751	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	193	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAAATCTCCGACCTGGGC	0.677000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	4					0	0	0.001984	0	0
RPAP1	26015	broad.mit.edu	37	15	41817327	41817327	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:41817327C>G	ENST00000304330.4	-	15	2053	c.1937G>C	c.(1936-1938)cGg>cCg	p.R646P	RPAP1_ENST00000561603.1_Missense_Mutation_p.R646P	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	646						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGGCGGCTCCGGAGATCAAA	0.592000													7	12					0	0	0.004482	0	0
TENM2	57451	broad.mit.edu	37	5	167489216	167489216	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:167489216G>A	ENST00000519204.1	+	6	1216	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	TENM2_ENST00000545108.1_Silent_p.K487K|TENM2_ENST00000520394.1_Silent_p.K255K|TENM2_ENST00000403607.2_Silent_p.K320K|TENM2_ENST00000518659.1_Silent_p.K487K					teneurin transmembrane protein 2																		CCCTCGGGAAGGACGCTCTCT	0.448000													15	25					0	0	0.007413	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411387	43411387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:43411387G>A	ENST00000310826.5	-	3	3001	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ZBTB21_ENST00000398505.3_Missense_Mutation_p.H739Y|ZBTB21_ENST00000398511.3_Missense_Mutation_p.H940Y|ZBTB21_ENST00000398499.1_Missense_Mutation_p.H940Y	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TTGCACACGTGACAAATAAAT	0.498000													10	32					0	0	0.000673	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032821	193032821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:193032821C>T	ENST00000342358.4	-	18	2215	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	700					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E700K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTTTGGTTTCTTTTTTCAAG	0.383000													20	63					0	0	0.001216	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398131	23398131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:23398131G>A	ENST00000379361.4	+	2	1635	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	259					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTCACTGAGGGAAGATTTCCA	0.517000													40	9					0	0	0.006230	0	0
NAV3	89795	broad.mit.edu	37	12	78360052	78360052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:78360052G>A	ENST00000397909.2	+	4	631	c.458G>A	c.(457-459)gGg>gAg	p.G153E	NAV3_ENST00000536525.2_Missense_Mutation_p.G153E|NAV3_ENST00000228327.6_Missense_Mutation_p.G153E|NAV3_ENST00000266692.7_Missense_Mutation_p.G153E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	153	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAGCCAGAGGGGTAAATGTT	0.313000										HNSCC(70;0.22)			20	43					0	0	0.002780	0	0
ZNF148	7707	broad.mit.edu	37	3	124952458	124952458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124952458G>A	ENST00000360647.4	-	9	1597	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	ZNF148_ENST00000485866.1_Missense_Mutation_p.S371L|ZNF148_ENST00000492394.1_Missense_Mutation_p.S371L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.S371L	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	371					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CCCAACTGACGAATGTGGCAT	0.363000													26	33					0	0	0.004656	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139777	55139777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:55139777G>A	ENST00000257290.5	+	10	1769	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	480	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCACTCCCGAGACAGGAGTAC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			23	34					0	0	0.004656	0	0
YBX2	51087	broad.mit.edu	37	17	7193843	7193843	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:7193843G>A	ENST00000007699.5	-	5	534	c.471C>T	c.(469-471)gcC>gcT	p.A157A	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	157	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTACATTAGTGGCTTCTGCGC	0.582000													10	10					0	0	0.001368	0	0
PLA2R1	22925	broad.mit.edu	37	2	160869867	160869867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:160869867C>T	ENST00000283243.7	-	10	1777	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G524E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	524	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAACAGAATCCACCATGTCT	0.368000													10	17					0	0	0.000978	0	0
DGKK	139189	broad.mit.edu	37	X	50127723	50127723	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:50127723C>T	ENST00000376025.2	-	0	2506							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R612L(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTACGGCGTCGTGGGCTTGT	0.398000													44	14					0	0	0.003214	0	0
MMAA	166785	broad.mit.edu	37	4	146560724	146560724	+	Nonsense_Mutation	SNP	C	C	T	rs104893851	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:146560724C>T	ENST00000281317.5	+	2	1643	c.433C>T	c.(433-435)Cga>Tga	p.R145*	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	145			R -> Q (in MMAA).			mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTAGCATTTCGAGTAGGTCA	0.323000													5	14					0	0	0.001984	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832632	34832632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:34832632C>T	ENST00000299505.6	+	10	2666	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	598										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGTAATTTCCCCAGGACTACA	0.443000													11	33					0	0	0.000978	0	0
KIAA1199	57214	broad.mit.edu	37	15	81171206	81171206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:81171206G>A	ENST00000394685.3	+	4	658	c.239G>A	c.(238-240)gGa>gAa	p.G80E	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G80E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G80E			Q8WUJ3	K1199_HUMAN	KIAA1199	80	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCTCAGAGGGAGGTAAGCCA	0.542000													21	51					0	0	0.002299	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195515	78195515	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:78195515C>T	ENST00000361193.3	+	3	436	c.156C>T	c.(154-156)ttC>ttT	p.F52F	SLC26A11_ENST00000411502.3_Silent_p.F52F|SLC26A11_ENST00000546047.2_Silent_p.F52F|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.F52F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	52						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGATGGATTTCGTCGCCGGCC	0.682000													20	23					0	0	0.001882	0	0
ENTPD5	957	broad.mit.edu	37	14	74433632	74433632	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:74433632C>T	ENST00000334696.6	-	16	1605	c.1286G>A	c.(1285-1287)tGa>tAa	p.*429*	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	0					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TACGTGGCCTCAATGGGAGAT	0.507000													19	25					0	0	0.002780	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120161	103120161	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:103120161C>T	ENST00000295269.4	+	3	1432	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	325					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCTCCGGCATCCTGGCGTGAG	0.433000													19	44					0	0	0.001882	0	0
ARID5B	84159	broad.mit.edu	37	10	63852268	63852268	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:63852268C>T	ENST00000279873.7	+	10	3456	c.3046C>T	c.(3046-3048)Ctg>Ttg	p.L1016L	ARID5B_ENST00000309334.5_Silent_p.L773L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1016					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAGCGCAGCCTGGAGGATTT	0.577000													15	64					0	0	0.004007	0	0
STK36	27148	broad.mit.edu	37	2	219538446	219538446	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:219538446C>T	ENST00000295709.3	+	3	462	c.183C>T	c.(181-183)ccC>ccT	p.P61P	STK36_ENST00000440309.1_Silent_p.P61P|STK36_ENST00000392105.3_Silent_p.P61P|STK36_ENST00000392106.2_Silent_p.P61P	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	61	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGCGGCATCCCAACATTGTGC	0.498000													15	19					0	0	0.004007	0	0
AGBL5	60509	broad.mit.edu	37	2	27278858	27278858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:27278858C>T	ENST00000360131.4	+	7	1376	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	AGBL5_ENST00000323064.8_Missense_Mutation_p.P406L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	406					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATTATGCCACAACAGTCT	0.522000													26	85					0	0	0.006320	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436106	5436106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:5436106C>T	ENST00000380419.3	-	4	752	c.715G>A	c.(715-717)Gtt>Att	p.V239I	TUBAL3_ENST00000479328.1_Missense_Mutation_p.V199I	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	239					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ACCACCTGAACCACCAATCTA	0.488000													24	33					0	0	0.002299	0	0
SENP6	26054	broad.mit.edu	37	6	76350409	76350409	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:76350409C>T	ENST00000447266.2	+	6	946	c.468C>T	c.(466-468)gaC>gaT	p.D156D	SENP6_ENST00000370010.2_Intron|SENP6_ENST00000370014.3_Intron|SENP6_ENST00000327284.8_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	156					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCAGTCTGGACCGAAAAGAAA	0.279000													6	9					0	0	0.004482	0	0
ITIH1	3697	broad.mit.edu	37	3	52814383	52814383	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:52814383C>T	ENST00000273283.2	+	6	696	c.672C>T	c.(670-672)tcC>tcT	p.S224S	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Silent_p.S82S|ITIH1_ENST00000542827.1_Silent_p.S224S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	224					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCAAGAAGTCCTTCTCAGGAA	0.552000													10	13					0	0	0.006214	0	0
MTOR	2475	broad.mit.edu	37	1	11300598	11300598	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11300598G>A	ENST00000361445.4	-	11	1624	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	516					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTGCAGTGAGGGCAGGGCTGA	0.517000													17	43					0	0	0.001216	0	0
THBS3	7059	broad.mit.edu	37	1	155166889	155166889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:155166889C>T	ENST00000368378.3	-	21	2635	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R401Q|THBS3_ENST00000487250.1_Intron|THBS3_ENST00000541576.1_Missense_Mutation_p.R269Q|THBS3_ENST00000457183.2_Missense_Mutation_p.R752Q	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTCTTGTCCCGCCAGCCCAC	0.622000													24	31					0	0	0.003330	0	0
IL17RD	54756	broad.mit.edu	37	3	57131690	57131690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:57131690C>T	ENST00000296318.7	-	12	2129	c.2041G>A	c.(2041-2043)Gga>Aga	p.G681R	IL17RD_ENST00000463523.1_Missense_Mutation_p.G537R|IL17RD_ENST00000427856.2_Missense_Mutation_p.G657R|IL17RD_ENST00000320057.5_Missense_Mutation_p.G537R	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	681						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTCGAGAGTCCTTCCATCAGT	0.622000													5	2					0	0	0.001984	0	0
LRRC66	339977	broad.mit.edu	37	4	52860601	52860601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:52860601G>A	ENST00000343457.3	-	4	2593	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	863						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGATCTGAGGGAACTTCAGCA	0.378000													20	22					0	0	0.002299	0	0
JAK1	3716	broad.mit.edu	37	1	65301108	65301108	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:65301108G>A	ENST00000342505.4	-	24	3588	c.3340C>T	c.(3340-3342)Ctg>Ttg	p.L1114L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1114	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGGCACGGCAGGCGTTTTCCT	0.423000			Mis		ALL								19	67					0	0	0.001882	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58183700	58183700	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:58183700G>A	ENST00000483681.1	-	8	1133	c.552C>T	c.(550-552)ttC>ttT	p.F184F	DNASE1L3_ENST00000318316.3_Silent_p.F184F|DNASE1L3_ENST00000486455.1_Silent_p.F154F|DNASE1L3_ENST00000394549.2_Silent_p.F184F			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	184					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CCATGAAAATGAAATTCTAAA	0.517000													13	18					0	0	0.001855	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396323	101396323	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:101396323C>T	ENST00000372773.1	-	3	342		c.e3-1		TCEAL6_ENST00000372774.3_5'UTR			Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCTCTTTTTCCTGTCCTGGGG	0.463000													5	3					0	0	0.000602	0	0
PIM3	415116	broad.mit.edu	37	22	50356709	50356709	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50356709C>T	ENST00000360612.4	+	6	1350	c.915C>T	c.(913-915)gaC>gaT	p.D305D		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	305					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		AGAGCTGTGACCTGCGGCTGT	0.687000													4	11					0	0	0.000602	0	0
LILRB4	11006	broad.mit.edu	37	19	55177763	55177763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55177763G>A	ENST00000391736.1	+	10	1262	c.947G>A	c.(946-948)aGg>aAg	p.R316K	LILRB4_ENST00000430952.2_Missense_Mutation_p.R316K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R316K|LILRB4_ENST00000391734.3_Missense_Mutation_p.R316K|LILRB4_ENST00000391733.3_Missense_Mutation_p.R316K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	316						integral to membrane|plasma membrane	antigen binding|receptor activity	p.R316K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGCCTACAGAGGAGGTAATTC	0.617000													10	29					0	0	0.000978	0	0
ARID5B	84159	broad.mit.edu	37	10	63661961	63661961	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:63661961A>T	ENST00000279873.7	+	2	475	c.65A>T	c.(64-66)tAc>tTc	p.Y22F		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	22					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TACATTTTCTACAAGGCTTTT	0.453000													24	49					0	0	0.002299	0	0
KCNH3	23416	broad.mit.edu	37	12	49948157	49948157	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:49948157G>A	ENST00000257981.6	+	11	2216	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	652					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGCCCCGGCGGGAGCAGGTGG	0.637000													35	80					0	0	0.005524	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913434	39913434	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:39913434C>T	ENST00000425673.1	+	16	1978	c.1653C>T	c.(1651-1653)acC>acT	p.T551T	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Silent_p.T580T|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Silent_p.T521T			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	580					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACAGCGAAACCCTCACATTCC	0.597000													10	19					0	0	0.000673	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816453	80816453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:80816453G>A	ENST00000466387.1	+	19	2756	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	CTNNA2_ENST00000361291.4_Missense_Mutation_p.E712K|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E678K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E678K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E678K|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E678K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E357K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	678					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACTACCGCAGGAGGAGAAGGC	0.507000													10	8					0	0	0.000673	0	0
CD276	80381	broad.mit.edu	37	15	73996205	73996205	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:73996205C>T	ENST00000318443.5	+	5	1241	c.939C>T	c.(937-939)ctC>ctT	p.L313L	CD276_ENST00000537340.2_Silent_p.L167L|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Silent_p.L313L|CD276_ENST00000318424.5_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	313	Ig-like V-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCACGGCCCTCTTCCCGGACC	0.632000													5	12					0	0	0.000602	0	0
OAT	4942	broad.mit.edu	37	10	126097393	126097393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:126097393G>A	ENST00000368845.5	-	3	433	c.341C>T	c.(340-342)gCt>gTt	p.A114V	OAT_ENST00000539214.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	114					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	ATTATAGAAAGCTCTAGATGT	0.368000													15	19					0	0	0.003163	0	0
CDHR4	389118	broad.mit.edu	37	3	49836220	49836220	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:49836220C>T	ENST00000487256.1	-	4	556	c.534G>A	c.(532-534)ggG>ggA	p.G178G	CDHR4_ENST00000412678.2_Intron|CDHR4_ENST00000343366.4_3'UTR			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ATCCCCCCACCCCCATCCTGT	0.582000													8	7					0	0	0.004482	0	0
PIF1	80119	broad.mit.edu	37	15	65110166	65110166	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:65110166C>T	ENST00000268043.4	-	11	1747	c.1653G>A	c.(1651-1653)gcG>gcA	p.A551A	PIF1_ENST00000333425.6_Silent_p.A551A|PIF1_ENST00000559239.1_Silent_p.A551A			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	551	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GGATGGACATCGCCCAGGCCA	0.632000													4	8					0	0	0.000602	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882158	228882158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:228882158C>T	ENST00000392056.3	-	7	3458	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1138K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1138						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)		CCTTCATTTTCCATCTGGTTC	0.537000													9	17					0	0	0.006214	0	0
SLIT2	9353	broad.mit.edu	37	4	20611732	20611732	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:20611732C>T	ENST00000504154.1	+	34	4041	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I	SLIT2_ENST00000503823.1_Silent_p.I1255I|SLIT2_ENST00000273739.5_Silent_p.I1276I|SLIT2_ENST00000503837.1_Silent_p.I1259I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1263	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCCCAAAATCATCACTAACT	0.453000													11	19					0	0	0.000978	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779500	117779500	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:117779500C>T	ENST00000528626.1	-	8	1078		c.e8-1		TMPRSS13_ENST00000524993.1_Splice_Site|TMPRSS13_ENST00000526090.1_Splice_Site|TMPRSS13_ENST00000445164.2_Splice_Site|TMPRSS13_ENST00000430170.2_Splice_Site	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13						proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTCCCGGGTCCTGCAAGAGCC	0.617000													11	5					0	0	0.003163	0	0
TTLL5	23093	broad.mit.edu	37	14	76149932	76149932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:76149932G>A	ENST00000298832.9	+	5	509	c.304G>A	c.(304-306)Gga>Aga	p.G102R	TTLL5_ENST00000557636.1_Missense_Mutation_p.G102R|TTLL5_ENST00000286650.5_Missense_Mutation_p.G102R|TTLL5_ENST00000556977.1_Missense_Mutation_p.G102R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	102	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATGTGGACAGGATCCCACCT	0.458000													25	22					0	0	0.007291	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438355	25438355	+	RNA	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:25438355C>T	ENST00000424208.1	+	0	1214				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						TGCTGAGCCCCTGGTGCACTG	0.597000													6	21					0	0	0.001168	0	0
ENPEP	2028	broad.mit.edu	37	4	111397743	111397743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:111397743C>T	ENST00000265162.5	+	1	515	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	58					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCAGCTCCTTCCCACCTGCCT	0.632000													33	52					0	0	0.002445	0	0
PSMB8	5696	broad.mit.edu	37	6	32810460	32810460	+	Silent	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:32810460G>T	ENST00000374881.2	-	3	673	c.384C>A	c.(382-384)gcC>gcA	p.A128A	PSMB8_ENST00000374882.3_Silent_p.A132A|PSMB8_ENST00000395339.3_Silent_p.A108A	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TGCATTCCTTGGCCAGCAGGC	0.517000													10	7					0.00010058	0.000130563	0.001368	1	0
NTRK3	4916	broad.mit.edu	37	15	88524547	88524547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:88524547C>T	ENST00000317501.3	-	14	1791	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.D544N|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.1_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tctctattgtccttcaagttt	0.438000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	27					0	0	0.003080	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729134	3729134	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:3729134C>T	ENST00000315677.3	-	7	2187		c.e7+1		DLGAP1_ENST00000534970.1_Splice_Site|DLGAP1_ENST00000400147.2_Splice_Site|DLGAP1_ENST00000400150.3_Splice_Site|DLGAP1_ENST00000400145.2_Splice_Site|DLGAP1_ENST00000515196.2_Splice_Site|DLGAP1_ENST00000400155.1_Splice_Site|DLGAP1_ENST00000584874.1_Splice_Site|DLGAP1_ENST00000581527.1_Splice_Site|DLGAP1_ENST00000478161.1_Splice_Site|DLGAP1_ENST00000581699.1_Splice_Site|DLGAP1_ENST00000539435.1_Splice_Site|DLGAP1_ENST00000400149.3_Splice_Site	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.?(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCGCACTCACCCGTGCTGCT	0.637000													8	11					0	0	0.006214	0	0
OR4D6	219983	broad.mit.edu	37	11	59224926	59224926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59224926C>T	ENST00000300127.2	+	1	516	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTGATGCTTCCATTCCCCTT	0.502000													33	64					0	0	0.002836	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091114	143091114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:143091114G>A	ENST00000367603.2	-	5	5504	c.4762C>T	c.(4762-4764)Cca>Tca	p.P1588S	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1588S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1588S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTCCTGCTGGTAATGAAGAA	0.552000													24	32					0	0	0.003954	0	0
MXRA5	25878	broad.mit.edu	37	X	3261829	3261829	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:3261829G>A	ENST00000217939.6	-	2	200	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	16						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCAAAGCAGGATCAGCACC	0.642000													9	4					0	0	0.000673	0	0
CCDC80	151887	broad.mit.edu	37	3	112324500	112324500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:112324500C>T	ENST00000206423.3	-	8	3570	c.2617G>A	c.(2617-2619)Gga>Aga	p.G873R	CCDC80_ENST00000439685.2_Missense_Mutation_p.G873R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	873										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTGACATTTCCGTCTTTTCCG	0.448000													11	29					0	0	0.000673	0	0
TRPM3	80036	broad.mit.edu	37	9	73150892	73150892	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:73150892T>C	ENST00000377110.2	-	25	5344	c.5101A>G	c.(5101-5103)Agc>Ggc	p.S1701G	TRPM3_ENST00000357533.2_Missense_Mutation_p.S1705G|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1728G|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1560G|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1573G|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1560G|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1550G|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1560G|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1563G|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1573G|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1563G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1726						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTTCAAAGCTTTGGAAAGCC	0.507000													26	74					0	0	0.004656	0	0
GCSAML	148823	broad.mit.edu	37	1	247737453	247737453	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:247737453G>A	ENST00000366491.2	+	7	614	c.117G>A	c.(115-117)gaG>gaA	p.E39E	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Silent_p.E39E|GCSAML_ENST00000366488.4_Silent_p.E59E|GCSAML_ENST00000527084.1_Silent_p.E27E|GCSAML_ENST00000527541.1_Silent_p.E27E|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Silent_p.E27E|GCSAML_ENST00000366489.1_Silent_p.E39E					germinal center-associated, signaling and motility-like																		AGGAAAACGAGAATGGCAGTG	0.433000													38	58					0	0	0.003214	0	0
RAP1B	5908	broad.mit.edu	37	12	69047972	69047972	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:69047972C>T	ENST00000250559.9	+	5	495	c.264C>T	c.(262-264)tcC>tcT	p.S88S	RAP1B_ENST00000393436.5_Silent_p.S88S|RAP1B_ENST00000341355.5_Silent_p.S88S|RAP1B_ENST00000378985.3_Silent_p.S22S|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Silent_p.S88S|RAP1B_ENST00000543393.1_Silent_p.S22S|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000541216.1_Silent_p.S88S|RAP1B_ENST00000537460.1_Silent_p.S88S|RAP1B_ENST00000540209.1_Silent_p.S69S|RAP1B_ENST00000539091.1_Silent_p.S46S|RAP1B_ENST00000450214.2_Silent_p.S46S	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	88					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CAGCACAGTCCACATTTAACG	0.333000													42	125					0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179571401	179571401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179571401C>T	ENST00000589042.1	-	102	29424	c.29200G>A	c.(29200-29202)Ggg>Agg	p.G9734R	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8490R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G9417R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9417	Ig-like 78.						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)			CTCCACTTCCCTTTTGTCCAT	0.408000													43	81					0	0	0.002852	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302455	15302455	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15302455C>T	ENST00000263388.2	-	6	891	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	272	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACGTCCTCCGTGCAGAACT	0.652000													14	15					0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55582303	55582303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:55582303C>T	ENST00000361849.3	-	34	5583	c.5189G>A	c.(5188-5190)aGa>aAa	p.R1730K	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1688K|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1659K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1705K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1725K|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1728K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1728					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAAATATTTCTTTCGGTTTC	0.443000										HNSCC(58;0.16)			8	17					0	0	0.003080	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192172	125192172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:125192172G>A	ENST00000431078.1	+	5	1005	c.641G>A	c.(640-642)gGa>gAa	p.G214E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	214	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCATGCAAGGAGATGGGGTC	0.512000													14	30					0	0	0.002450	0	0
MEPCE	56257	broad.mit.edu	37	7	100029261	100029261	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100029261C>T	ENST00000310512.2	+	1	2008	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	MEPCE_ENST00000414441.1_Silent_p.P71P	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	540	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAAGTGCCCTTGGATGGAG	0.607000													5	20					0	0	0.000602	0	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	G	A	rs143953030		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113890711G>A	ENST00000383673.2	-	2	559	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_ENST00000295881.7_Silent_p.I43I|DRD3_ENST00000467632.1_Silent_p.I43I|DRD3_ENST00000460779.1_Silent_p.I43I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	43					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000													9	24					0	0	0.004482	0	0
OR4M2	390538	broad.mit.edu	37	15	22369004	22369004	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:22369004C>T	ENST00000332663.2	+	1	527	c.429C>T	c.(427-429)atC>atT	p.I143I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGCTGTATCCTGGTGGCTC	0.507000													42	136					0	0	0.002222	0	0
CCIN	881	broad.mit.edu	37	9	36170445	36170445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:36170445C>T	ENST00000335119.2	+	1	1057	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	316					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CATGCCCTATCGGGCAGCAGC	0.547000													18	10					0	0	0.004990	0	0
PTPN23	25930	broad.mit.edu	37	3	47447872	47447872	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:47447872C>T	ENST00000265562.4	+	7	681	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	PTPN23_ENST00000431726.1_Silent_p.L76L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	202	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGAGCTTTCTGGTGGCCCG	0.627000													14	22					0	0	0.004990	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316504	78316504	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78316504C>T	ENST00000409931.3	-	6	1535	c.1464G>A	c.(1462-1464)agG>agA	p.R488R	TBC1D2B_ENST00000300584.3_Silent_p.R488R			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	488						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTACTTTCAGCCTGTCCAGTT	0.642000													9	17					0	0	0.006214	0	0
LRWD1	222229	broad.mit.edu	37	7	102106642	102106642	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:102106642C>T	ENST00000292616.5	+	3	509	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	119					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TGCCCACGCTCCGTAAGGTCA	0.542000													24	33					0	0	0.003954	0	0
CARD11	84433	broad.mit.edu	37	7	2952951	2952951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2952951C>T	ENST00000396946.4	-	22	3392	c.2989G>A	c.(2989-2991)Ggt>Agt	p.G997S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	997	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCATGGCACCTCCCGAGTTG	0.667000			Mis		DLBCL								23	59					0	0	0.002780	0	0
SCAP	22937	broad.mit.edu	37	3	47460943	47460943	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:47460943C>T	ENST00000265565.5	-	13	2227	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E	SCAP_ENST00000545718.1_Silent_p.E213E|SCAP_ENST00000441517.2_Silent_p.E350E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	605					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CATGGACAACCTCTGCTGGAC	0.602000													19	42					0	0	0.001882	0	0
STAT1	6772	broad.mit.edu	37	2	191851617	191851617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:191851617G>A	ENST00000361099.3	-	14	1571	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	STAT1_ENST00000392323.2_Missense_Mutation_p.S397F|STAT1_ENST00000409465.1_Missense_Mutation_p.S395F|STAT1_ENST00000392322.3_Missense_Mutation_p.S395F|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	395					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCCATTGGTGGACTCCTCCAT	0.423000													60	100					0	0	0.003610	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570288	47570288	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47570288G>A	ENST00000253048.5	-	15	3274	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1079							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCAGCCGAGGGTCGGTGGGGG	0.701000													9	15					0	0	0.000673	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602351	48602351	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48602351C>T	ENST00000323776.5	+	13	2040	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	MYCBPAP_ENST00000436259.2_Silent_p.T589T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	589					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTATCTCACCGAGGAAGACT	0.647000													20	62					0	0	0.001523	0	0
ERMN	57471	broad.mit.edu	37	2	158178034	158178034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:158178034G>A	ENST00000410096.1	-	3	895	c.604C>T	c.(604-606)Cga>Tga	p.R202*	ERMN_ENST00000397283.2_Nonsense_Mutation_p.R215*|ERMN_ENST00000420719.2_Nonsense_Mutation_p.R182*|ERMN_ENST00000535935.1_Nonsense_Mutation_p.R96*	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	202						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTATCACTCGAACTtcatct	0.383000													29	52					0	0	0.006320	0	0
GKAP1	80318	broad.mit.edu	37	9	86383826	86383826	+	Silent	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:86383826A>G	ENST00000376371.2	-	8	1045	c.645T>C	c.(643-645)gaT>gaC	p.D215D	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	215					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TATGAACATCATCTTCCAGTC	0.333000													14	26					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179604720	179604720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179604720G>A	ENST00000589042.1	-	48	13464	c.13240C>T	c.(13240-13242)Ctt>Ttt	p.L4414F	TTN_ENST00000342175.6_Missense_Mutation_p.L4243F|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.L4176F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L4051F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L4097F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4097	Ig-like 24.						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)			TCAGAGAAAAGACCTGGCTGC	0.478000													29	44					0	0	0.007291	0	0
SH3BP5	9467	broad.mit.edu	37	3	15297671	15297671	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:15297671C>T	ENST00000383791.3	-	9	1510	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	SH3BP5_ENST00000253688.5_Silent_p.R273R|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.R273R|SH3BP5_ENST00000426925.1_Silent_p.R273R	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	430					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GCTGCTTCATCCGGTTCTCCA	0.552000													20	20					0	0	0.001523	0	0
CABP7	164633	broad.mit.edu	37	22	30124621	30124621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:30124621G>A	ENST00000216144.3	+	3	597	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	86	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TCCACCAGGTGATGGTCAAGT	0.572000													16	14					0	0	0.004990	0	0
ENTPD5	957	broad.mit.edu	37	14	74433631	74433631	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:74433631T>C	ENST00000334696.6	-	16	1606	c.1287A>G	c.(1285-1287)tgA>tgG	p.*429W	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	0					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTACGTGGCCTCAATGGGAGA	0.507000													19	24					0	0	0.002780	0	0
CDK4	1019	broad.mit.edu	37	12	58143035	58143035	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:58143035G>T	ENST00000257904.6	-	7	1114	c.749C>A	c.(748-750)cCc>cAc	p.P250H	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.P130H	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	250	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCCTCTGGGGGGAAAGGCTCC	0.637000			Mis			melanoma			Hereditary Melanoma				16	33					1.5739e-10	2.05561e-10	0.004007	1	0
CCDC81	60494	broad.mit.edu	37	11	86131096	86131096	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:86131096G>A	ENST00000278487.3	+	13	2101		c.e13+1		CCDC81_ENST00000445632.2_Splice_Site|CCDC81_ENST00000528728.1_Splice_Site|CCDC81_ENST00000354755.1_Splice_Site			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81											kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTTTTGAACGGTAATGCCTGA	0.502000													19	40					0	0	0.001216	0	0
DKC1	1736	broad.mit.edu	37	X	153995642	153995642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153995642C>T	ENST00000369550.5	+	7	835	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	209					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAATACGATCCTGAAAGAAG	0.443000									Congenital Dyskeratosis				36	13					0	0	0.006999	0	0
MOV10L1	54456	broad.mit.edu	37	22	50537966	50537966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50537966C>T	ENST00000262794.5	+	3	460	c.377C>T	c.(376-378)tCc>tTc	p.S126F	MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.S126F|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.S106F|MOV10L1_ENST00000545383.1_Missense_Mutation_p.S126F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	126					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTGTGACTTCCCTGGTGGAG	0.532000													17	28					0	0	0.007413	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025574	17025574	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:17025574A>G	ENST00000443236.1	-	28	3851	c.3820T>C	c.(3820-3822)Ttc>Ctc	p.F1274L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1227						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						GGGTCCACGAAGATAAAGCTG	0.617000													6	33					0	0	0.003080	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822444	43822444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:43822444C>T	ENST00000389420.3	-	25	3647	c.3648G>A	c.(3646-3648)tgG>tgA	p.W1216*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.W1216*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.W334*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1216	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACGGGTGACCAATCCCCTG	0.333000													7	10					0	0	0.001984	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953375	8953375	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8953375G>A	ENST00000595891.1	+	3	252	c.21G>A	c.(19-21)agG>agA	p.R7R	MBD3L1_ENST00000305625.2_Silent_p.R7R			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	7	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GTTCACAGAGGAAGCAACGTG	0.423000													6	16					0	0	0.004482	0	0
DMBT1	1755	broad.mit.edu	37	10	124377706	124377706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:124377706G>A	ENST00000338354.3	+	38	4784	c.4678G>A	c.(4678-4680)Gga>Aga	p.G1560R	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1550R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1550R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G932R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1560R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G411R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G932R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1560	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCAGCCCCAGGAAATGCCCA	0.612000													65	118					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103412449	103412449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:103412449C>T	ENST00000358392.2	-	42	3585	c.3268G>A	c.(3268-3270)Gga>Aga	p.G1090R	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1078R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1039R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G962R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1078	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)		CCCTGAGGTCCCGGGCGCCCT	0.478000													5	21					0	0	0.000602	0	0
OR5T2	219464	broad.mit.edu	37	11	55999754	55999754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55999754G>A	ENST00000313264.4	-	1	983	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGCATAGCTGGAACTTGGTCT	0.428000													23	52					0	0	0.002780	0	0
CPS1	1373	broad.mit.edu	37	2	211452803	211452803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:211452803G>A	ENST00000233072.5	+	7	839	c.643G>A	c.(643-645)Gga>Aga	p.G215R	CPS1_ENST00000430249.2_Missense_Mutation_p.G221R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	215	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTACGGCAAAGGAAACCCCAC	0.413000													22	67					0	0	0.005443	0	0
CDH16	1014	broad.mit.edu	37	16	66945820	66945820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:66945820G>A	ENST00000299752.4	-	13	1965	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	CDH16_ENST00000394055.3_Missense_Mutation_p.P591L|CDH16_ENST00000570262.1_Missense_Mutation_p.P511L|CDH16_ENST00000565796.1_Missense_Mutation_p.P591L|CDH16_ENST00000568632.1_Missense_Mutation_p.P494L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	591	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCGGCTGATGGGGTCGGAGGG	0.637000													14	27					0	0	0.002450	0	0
CLCN1	1180	broad.mit.edu	37	7	143029561	143029561	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143029561T>A	ENST00000343257.2	+	11	1303	c.1216T>A	c.(1216-1218)Ttc>Atc	p.F406I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	406					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCATTCACCTTCCCACCAGG	0.483000													24	45					0	0	0.007291	0	0
OR5D13	390142	broad.mit.edu	37	11	55541213	55541213	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55541213C>T	ENST00000361760.1	+	1	300	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTGGTTGCATCATGCAATTTT	0.408000													24	64					0	0	0.003330	0	0
COL6A6	131873	broad.mit.edu	37	3	130284201	130284201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:130284201G>A	ENST00000358511.6	+	3	1056	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R342Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	342	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGACCCACCGAGATTCAGAA	0.562000													29	78					0	0	0.002836	0	0
CYLC1	1538	broad.mit.edu	37	X	83128012	83128012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:83128012C>T	ENST00000329312.4	+	4	333	c.296C>T	c.(295-297)cCa>cTa	p.P99L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	99					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAACAGACTCCATTCAGACAT	0.383000													5	6					0	0	0.001168	0	0
MPDZ	8777	broad.mit.edu	37	9	13119590	13119590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:13119590C>T	ENST00000319217.7	-	39	5537	c.5290G>A	c.(5290-5292)Gga>Aga	p.G1764R	MPDZ_ENST00000381022.2_Missense_Mutation_p.G1764R|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1764R|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1731R|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1731R|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1778R|MPDZ_ENST00000538841.1_Missense_Mutation_p.G623R|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1764R	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1764	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATCAGTCTTCCATCGGCATCT	0.418000													31	26					0	0	0.002445	0	0
ARGFX	503582	broad.mit.edu	37	3	121304943	121304943	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:121304943C>T	ENST00000334384.3	+	4	454	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAAACCAGATCCTTCCATCCA	0.502000													13	27					0	0	0.001855	0	0
GYS2	2998	broad.mit.edu	37	12	21728963	21728963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:21728963C>T	ENST00000261195.2	-	3	586	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	111					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATAAGGACTTCCTTCTATCAG	0.433000													16	38					0	0	0.003163	0	0
CYLC2	1539	broad.mit.edu	37	9	105767357	105767357	+	Silent	SNP	G	G	A	rs147375715		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:105767357G>A	ENST00000374798.3	+	5	514	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CYLC2_ENST00000487798.1_Silent_p.E148E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	148	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggatatagagaaaggaaaag	0.358000													6	7					0	0	0.001168	0	0
IL20	50604	broad.mit.edu	37	1	207039849	207039849	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:207039849C>T	ENST00000367098.1	+	4	609	c.246C>T	c.(244-246)ctC>ctT	p.L82L	IL20_ENST00000367096.3_Silent_p.L82L|IL20_ENST00000391930.2_Silent_p.L82L			Q9NYY1	IL20_HUMAN	interleukin 20	82					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.L82L(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GATGCTGCCTCCTGCGCCATT	0.512000													128	250					0	0	0.003610	0	0
GABRA2	2555	broad.mit.edu	37	4	46307625	46307625	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:46307625C>T	ENST00000510861.1	-	7	836	c.663G>A	c.(661-663)ctG>ctA	p.L221L	GABRA2_ENST00000381620.4_Silent_p.L221L|GABRA2_ENST00000356504.1_Silent_p.L221L|GABRA2_ENST00000507069.1_Silent_p.L221L|GABRA2_ENST00000514090.1_Silent_p.L221L|GABRA2_ENST00000515082.1_Silent_p.L221L|GABRA2_ENST00000540012.1_Silent_p.L166L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	221					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGATTGGCCCAGCAGGTCAT	0.368000													19	40					0	0	0.001216	0	0
OR10H3	26532	broad.mit.edu	37	19	15852473	15852473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15852473C>T	ENST00000305892.1	+	1	271	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTTCACCCATCGTTCCATCAC	0.498000													67	240					0	0	0.003610	0	0
GPER1	2852	broad.mit.edu	37	7	1131498	1131498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:1131498G>A	ENST00000397092.1	+	3	1018	c.134G>A	c.(133-135)gGg>gAg	p.G45E	C7orf50_ENST00000397098.3_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.G45E|GPER_ENST00000397088.3_Missense_Mutation_p.G45E|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.G45E|C7orf50_ENST00000357429.6_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		45				Missing (in Ref. 7; AAB02736).		endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTGGCCAATGGGACAGGTGAG	0.647000													8	15					0	0	0.004482	0	0
MARK4	57787	broad.mit.edu	37	19	45774924	45774924	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:45774924C>T	ENST00000300843.4	+	8	1041	c.744C>T	c.(742-744)acC>acT	p.T248T	MARK4_ENST00000262891.4_Silent_p.T248T	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	248	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCTGTACACCCTCGTCAGCG	0.662000													13	34					0	0	0.002450	0	0
SEMA3E	9723	broad.mit.edu	37	7	83119493	83119493	+	Silent	SNP	G	G	A	rs146189665		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:83119493G>A	ENST00000307792.3	-	2	680	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SEMA3E_ENST00000427262.1_Silent_p.F11F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	71	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCCTCCCACGAAGAGCCTCT	0.413000													13	24					0	0	0.001855	0	0
CRB1	23418	broad.mit.edu	37	1	197396999	197396999	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197396999C>T	ENST00000367397.1	+	3	1545	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CRB1_ENST00000367400.3_Silent_p.F848F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.F329F|CRB1_ENST00000535699.1_Silent_p.F779F|CRB1_ENST00000367399.2_Silent_p.F736F			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	848	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGATTCTTCAAAGGCTGTA	0.383000													11	23					0	0	0.001855	0	0
HDDC2	51020	broad.mit.edu	37	6	125614016	125614016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:125614016G>A	ENST00000398153.1	-	4	552	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	HDDC2_ENST00000368377.4_Missense_Mutation_p.L83F	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	117	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TCCTTTCTGAGGTCCTCTGGT	0.348000													39	27					0	0	0.002522	0	0
ITIH1	3697	broad.mit.edu	37	3	52814382	52814382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:52814382C>T	ENST00000273283.2	+	6	695	c.671C>T	c.(670-672)tCc>tTc	p.S224F	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S82F|ITIH1_ENST00000542827.1_Missense_Mutation_p.S224F	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	224					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ATCAAGAAGTCCTTCTCAGGA	0.552000													10	15					0	0	0.006214	0	0
PRSS48	345062	broad.mit.edu	37	4	152204438	152204438	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:152204438G>A	ENST00000455694.2	+	4	653	c.651_splice	c.e4+1	p.K217_splice	PRSS48_ENST00000441586.2_Splice_Site_p.K74_splice|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	217	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ATAGTTGCAAGGTCAGGGTTT	0.403000													11	46					0	0	0.001855	0	0
PPARG	5468	broad.mit.edu	37	3	12421418	12421418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:12421418C>T	ENST00000397026.2	+	4	615	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	PPARG_ENST00000397000.1_Nonsense_Mutation_p.Q72*|PPARG_ENST00000287820.6_Nonsense_Mutation_p.Q100*|PPARG_ENST00000397015.2_Nonsense_Mutation_p.Q72*|PPARG_ENST00000397010.2_Nonsense_Mutation_p.Q72*|PPARG_ENST00000397012.2_Nonsense_Mutation_p.Q72*|PPARG_ENST00000309576.6_Nonsense_Mutation_p.Q72*|PPARG_ENST00000539812.1_Nonsense_Mutation_p.Q70*			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	100					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCTGAAACTTCAAGAGTACCA	0.378000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						75	60					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170011104	170011104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:170011104G>A	ENST00000263816.3	-	66	12446	c.12161C>T	c.(12160-12162)cCt>cTt	p.P4054L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4054					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGCAACAAAGGAGAGCTACC	0.368000													10	23					0	0	0.001855	0	0
IRS4	8471	broad.mit.edu	37	X	107979390	107979390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:107979390G>A	ENST00000372129.2	-	1	261	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	62						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTCTGACCGGGAGCCAGTGGC	0.652000													12	4					0	0	0.002450	0	0
OR9A2	135924	broad.mit.edu	37	7	142723527	142723527	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:142723527C>T	ENST00000350513.2	-	1	755	c.693G>A	c.(691-693)agG>agA	p.R231R		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGAAGGCTTTCCTCCGGCCAG	0.488000													21	37					0	0	0.002780	0	0
PTCH2	8643	broad.mit.edu	37	1	45293690	45293690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:45293690G>A	ENST00000447098.2	-	14	1894	c.1883C>T	c.(1882-1884)tCt>tTt	p.S628F	PTCH2_ENST00000372192.3_Missense_Mutation_p.S628F	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	628					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGTGGGTCAGAAGGTGGGGG	0.622000									Basal Cell Nevus syndrome				24	26					0	0	0.002299	0	0
ADCY1	107	broad.mit.edu	37	7	45743273	45743273	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:45743273C>T	ENST00000297323.7	+	16	2668	c.2646C>T	c.(2644-2646)atC>atT	p.I882I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	882					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTTCTACATCGAGCTGGACG	0.562000													18	39					0	0	0.007413	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597009	31597009	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:31597009C>T	ENST00000376033.2	+	13	2088	c.1854C>T	c.(1852-1854)ccC>ccT	p.P618P	PRRC2A_ENST00000376007.4_Silent_p.P618P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	618	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGTGGAACCCAAGGGTGATG	0.582000													28	23					0	0	0.001786	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808374	100808374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:100808374C>T	ENST00000372829.3	+	4	832	c.461C>T	c.(460-462)cCc>cTc	p.P154L		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	154						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGCTGCCACCCCACCAGGAGT	0.622000													23	9					0	0	0.003954	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403047	1403047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:1403047G>A	ENST00000270349.9	-	13	1884	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S586F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	586	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTCTCGAAAGGACCCAGGCAG	0.642000													7	10					0	0	0.006214	0	0
PRDM12	59335	broad.mit.edu	37	9	133543581	133543581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:133543581G>A	ENST00000253008.2	+	3	511	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	151	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTACTTCATCGATGCCAGCCA	0.567000													14	29					0	0	0.001855	0	0
MAPK1	5594	broad.mit.edu	37	22	22142678	22142678	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:22142678C>T	ENST00000215832.6	-	6	913		c.e6-1		MAPK1_ENST00000398822.3_Splice_Site|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1						activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	CCAAGAATACCTATCAGATAA	0.358000													21	54					0	0	0.002780	0	0
ITGAV	3685	broad.mit.edu	37	2	187511431	187511431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:187511431C>T	ENST00000261023.3	+	13	1452	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	ITGAV_ENST00000433736.2_Missense_Mutation_p.P347L|ITGAV_ENST00000374907.3_Missense_Mutation_p.P357L|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	393					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATTGCTGCTCCATATGGGGGT	0.443000													12	17					0	0	0.001855	0	0
L1CAM	3897	broad.mit.edu	37	X	153134070	153134070	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153134070G>A	ENST00000370060.1	-	13	1681	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	L1CAM_ENST00000361981.3_Silent_p.L493L|L1CAM_ENST00000370057.3_Silent_p.L498L|L1CAM_ENST00000543994.1_Silent_p.L500L|L1CAM_ENST00000361699.4_Silent_p.L498L|L1CAM_ENST00000538883.1_Silent_p.L500L|L1CAM_ENST00000370055.1_Silent_p.L493L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	498	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCAGCCAGGCAGAAGTAG	0.557000													20	4					0	0	0.001523	0	0
MYT1	4661	broad.mit.edu	37	20	62839626	62839626	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:62839626G>A	ENST00000536311.1	+	7	1441	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	MYT1_ENST00000328439.1_Silent_p.R359R|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	359					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCCACTCCCGGAAGTCAACAG	0.602000													20	30					0	0	0.001216	0	0
CECR1	51816	broad.mit.edu	37	22	17684453	17684453	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:17684453C>T	ENST00000399839.1	-	4	1023	c.753_splice	c.e4+1	p.P251_splice	CECR1_ENST00000262607.3_Splice_Site_p.P251_splice|CECR1_ENST00000399837.2_Splice_Site_p.P251_splice|CECR1_ENST00000449907.2_Splice_Site_p.P209_splice			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	251					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTGGGCTCACCGGCAGCAGCC	0.532000													5	20					0	0	0.001168	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396394	22396394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:22396394C>T	ENST00000263160.3	+	9	1572	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	379					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAAGCAGATTCTTTCAACTAC	0.383000													44	44					0	0	0.002222	0	0
NF1	4763	broad.mit.edu	37	17	29559101	29559101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:29559101C>T	ENST00000358273.4	+	25	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1070					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATTTGGACCAGGCAAGCAT	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	9					0	0	0.001984	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923470	78923470	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78923470G>A	ENST00000261751.3	-	4	418	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Silent_p.L103L	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	103					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGGATCCTCAGGATGTTCACA	0.592000													13	38					0	0	0.006122	0	0
SPATA20	64847	broad.mit.edu	37	17	48631746	48631746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48631746C>T	ENST00000006658.6	+	15	2212	c.2092C>T	c.(2092-2094)Cgt>Tgt	p.R698C	SPATA20_ENST00000356488.4_Missense_Mutation_p.R682C|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.R638C	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	682					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCGCATGCGTCGTGTCCCGGT	0.657000													32	76					0	0	0.005524	0	0
SELE	6401	broad.mit.edu	37	1	169695926	169695926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:169695926G>A	ENST00000333360.7	-	11	1806	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	SELE_ENST00000367779.4_Missense_Mutation_p.P430L|SELE_ENST00000367775.1_Missense_Mutation_p.P431L|SELE_ENST00000367776.1_Missense_Mutation_p.P493L|SELE_ENST00000367782.4_Missense_Mutation_p.P493L|SELE_ENST00000367774.1_Missense_Mutation_p.P430L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P493L|SELE_ENST00000367780.4_Missense_Mutation_p.P431L|SELE_ENST00000367777.1_Missense_Mutation_p.P493L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	556					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGCTACCAAGGGAATGTTGGA	0.473000													8	12					0	0	0.003080	0	0
SBNO2	22904	broad.mit.edu	37	19	1127741	1127741	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1127741G>A	ENST00000361757.3	-	5	540	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SBNO2_ENST00000587024.1_Silent_p.F101F|SBNO2_ENST00000438103.2_Silent_p.F44F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	101					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTTGGAGAAGTCCTCAA	0.617000													13	6					0	0	0.002450	0	0
OR52H1	390067	broad.mit.edu	37	11	5566730	5566730	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:5566730G>A	ENST00000322653.4	-	1	49	c.24C>T	c.(22-24)atC>atT	p.I8I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAAATGATCATGGCAG	0.433000													27	22					0	0	0.001512	0	0
TMEM202	338949	broad.mit.edu	37	15	72699092	72699092	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:72699092G>A	ENST00000341689.3	+	3	541	c.487_splice	c.e3+1	p.A163_splice	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	163						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTTCATCTCAGGTACAGACCT	0.433000													45	110					0	0	0.003610	0	0
ACTR5	79913	broad.mit.edu	37	20	37396215	37396215	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:37396215G>T	ENST00000243903.4	+	8	1579	c.1542G>T	c.(1540-1542)atG>atT	p.M514I		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	514					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGTTGGAGATGAGACCCTTCC	0.418000													19	36					1.56452e-12	2.04616e-12	0.007413	1	0
BAI1	575	broad.mit.edu	37	8	143602235	143602235	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:143602235C>T	ENST00000517894.1	+	20	3867	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	BAI1_ENST00000323289.5_Silent_p.I991I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	991					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCTGTCCATCATCTCCTCCA	0.577000													21	32					0	0	0.002780	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870879	51870879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:51870879G>A	ENST00000371497.5	+	2	1769	c.882G>A	c.(880-882)atG>atA	p.M294I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.M291I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M291I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	294					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCGTCCACATGATTAAAACAA	0.438000													15	33					0	0	0.002450	0	0
MARCH10	162333	broad.mit.edu	37	17	60779114	60779114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:60779114C>T	ENST00000583600.1	-	12	2775	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K	MARCH10_ENST00000582358.1_5'UTR|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.E793K|MARCH10_ENST00000311269.5_Missense_Mutation_p.E793K			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	793							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTCCCAACTCCGAATCTGGA	0.587000													26	70					0	0	0.001786	0	0
IGSF1	3547	broad.mit.edu	37	X	130416704	130416704	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:130416704G>A	ENST00000370904.1	-	13	1843	c.933C>T	c.(931-933)ttC>ttT	p.F311F	IGSF1_ENST00000361420.3_Silent_p.F320F|IGSF1_ENST00000370903.3_Silent_p.F320F|IGSF1_ENST00000370910.1_Silent_p.F311F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	320	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGTCTTGGGGAAAGTGTCTA	0.512000													15	6					0	0	0.006122	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129405	84129405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:84129405G>A	ENST00000343411.3	-	4	922	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	143					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTACTGTGGGGTCAGCTACA	0.547000													17	52					0	0	0.004990	0	0
VIMP	55829	broad.mit.edu	37	15	101814870	101814870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:101814870C>T	ENST00000398226.3	-	4	367	c.335G>A	c.(334-336)aGg>aAg	p.R112K	VIMP_ENST00000531964.1_Missense_Mutation_p.R89K|VIMP_ENST00000526049.1_Missense_Mutation_p.R112K|VIMP_ENST00000537379.1_Missense_Mutation_p.R112K					VCP-interacting membrane protein																		CTTCTGTCTCCTTTTTTCTTC	0.408000													8	14					0	0	0.006214	0	0
INPP5D	3635	broad.mit.edu	37	2	234104085	234104085	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234104085G>A	ENST00000359570.5	+	26	2601	c.2601G>A	c.(2599-2601)aaG>aaA	p.K867K	INPP5D_ENST00000455936.2_Silent_p.K631K|INPP5D_ENST00000450745.1_Silent_p.K631K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	879					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTGGGCCAAAGACCCTGAAGA	0.587000													13	28					0	0	0.003163	0	0
NOX1	27035	broad.mit.edu	37	X	100105197	100105197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:100105197C>T	ENST00000372966.3	-	9	1281	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G359E|NOX1_ENST00000372960.4_Missense_Mutation_p.G322E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	359	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473000													20	4					0	0	0.003330	0	0
ERCC6	2074	broad.mit.edu	37	10	50691556	50691556	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:50691556G>A	ENST00000355832.5	-	9	1906	c.1828C>T	c.(1828-1830)Cta>Tta	p.L610L	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	610	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCGAATTAGTTTCTCCTGA	0.353000								Direct reversal of damage;Nucleotide excision repair (NER)					16	33					0	0	0.004990	0	0
SZT2	23334	broad.mit.edu	37	1	43903269	43903269	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:43903269C>T	ENST00000562955.1	+	44	6123	c.6123C>T	c.(6121-6123)ctC>ctT	p.L2041L	SZT2_ENST00000372442.1_Silent_p.L1199L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2098						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCCAGGCTCCTAGAGACAT	0.572000													5	13					0	0	0.000602	0	0
FNBP1L	54874	broad.mit.edu	37	1	94012481	94012481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:94012481G>A	ENST00000260506.8	+	11	1334	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	FNBP1L_ENST00000370253.2_Missense_Mutation_p.E395K|FNBP1L_ENST00000271234.7_Missense_Mutation_p.E453K|FNBP1L_ENST00000370256.4_Missense_Mutation_p.E448K|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E453K	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	453	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAAATTAGCAGAGACCATGAA	0.358000													10	10					0	0	0.001368	0	0
PDHA2	5161	broad.mit.edu	37	4	96762042	96762042	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:96762042C>T	ENST00000295266.4	+	1	804	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	247					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCAATTTTATCCCTGGGCTAA	0.453000													25	34					0	0	0.003330	0	0
MEF2D	4209	broad.mit.edu	37	1	156446904	156446904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:156446904G>A	ENST00000348159.4	-	7	1235	c.755C>T	c.(754-756)cCa>cTa	p.P252L	MEF2D_ENST00000368240.2_Missense_Mutation_p.P252L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P252L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P206L|MEF2D_ENST00000340875.5_Missense_Mutation_p.P251L|MEF2D_ENST00000464356.1_Intron	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	252	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTGGGGGTGGAGACTTGGC	0.607000													27	29					0	0	0.005443	0	0
GK2	2712	broad.mit.edu	37	4	80329289	80329289	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:80329289G>A	ENST00000358842.3	-	1	83	c.66C>T	c.(64-66)tcC>tcT	p.S22S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	22					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAAAGCGAGTGGAGTTGGTGC	0.532000													9	15					0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73850049	73850049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:73850049G>A	ENST00000523207.1	+	3	3047	c.2459G>A	c.(2458-2460)gGg>gAg	p.G820E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	820					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)			GAGCTCCCAGGGGCAAGGGAG	0.507000													13	66					0	0	0.001855	0	0
TTLL4	9654	broad.mit.edu	37	2	219602993	219602993	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:219602993C>T	ENST00000392102.1	+	3	934	c.594C>T	c.(592-594)gcC>gcT	p.A198A	TTLL4_ENST00000457313.1_Silent_p.A33A|TTLL4_ENST00000442769.1_Silent_p.A198A|TTLL4_ENST00000258398.4_Silent_p.A198A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	198					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTGGCCTCTGCCATCT	0.547000													22	64					0	0	0.001882	0	0
RDH8	50700	broad.mit.edu	37	19	10129494	10129494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:10129494G>A	ENST00000591589.1	+	3	599	c.410G>A	c.(409-411)gGa>gAa	p.G137E	RDH8_ENST00000171214.1_Missense_Mutation_p.G117E			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	117					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AACTTTTTCGGAGCTGTCCGT	0.577000													25	58					0	0	0.003330	0	0
CPNE1	8904	broad.mit.edu	37	20	34220449	34220449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:34220449G>A	ENST00000317619.3	-	5	693	c.299C>T	c.(298-300)tCc>tTc	p.S100F	CPNE1_ENST00000352393.4_Missense_Mutation_p.S100F|CPNE1_ENST00000397446.1_Missense_Mutation_p.S100F|CPNE1_ENST00000317677.5_Missense_Mutation_p.S105F|CPNE1_ENST00000397442.1_Missense_Mutation_p.S100F|CPNE1_ENST00000397443.1_Missense_Mutation_p.S100F|CPNE1_ENST00000397445.1_Missense_Mutation_p.S100F			Q99829	CPNE1_HUMAN	copine I	100					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGTCCTAGGGAACACTCAGC	0.537000													26	56					0	0	0.002096	0	0
BCL2L13	23786	broad.mit.edu	37	22	18209980	18209980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:18209980C>T	ENST00000317582.5	+	7	1485	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.L256F|BCL2L13_ENST00000337612.5_Missense_Mutation_p.L218F|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.L218F	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	380	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GTTTGTAGAACTTGATGAAGA	0.512000													24	41					0	0	0.002299	0	0
CCDC61	729440	broad.mit.edu	37	19	46511477	46511477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:46511477G>A	ENST00000263284.2	+	6	640	c.640G>A	c.(640-642)Gag>Aag	p.E214K	CCDC61_ENST00000595358.1_Missense_Mutation_p.E157K|CCDC61_ENST00000536603.1_Missense_Mutation_p.E157K|CCDC61_ENST00000594087.1_Missense_Mutation_p.E157K					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GTCACTGAAGGAGGAACTGGG	0.617000													6	11					0	0	0.004482	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44607118	44607118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:44607118G>A	ENST00000273320.3	+	3	992	c.563G>A	c.(562-564)gGg>gAg	p.G188E	ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.G188E|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G188E|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.G188E	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TATGACCCAGGGACACACCAC	0.572000													17	27					0	0	0.004990	0	0
OR5A2	219981	broad.mit.edu	37	11	59190041	59190041	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59190041T>C	ENST00000302040.4	-	1	408	c.386A>G	c.(385-387)aAc>aGc	p.N129S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AAGCAAGGGGTTGCAGATTGC	0.478000													9	18					0	0	0.006214	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969428	47969428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47969428G>A	ENST00000236877.6	-	2	628	c.233C>T	c.(232-234)gCc>gTc	p.A78V	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	78					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTAGACCATGGCCACAAAGTA	0.617000													9	17					0	0	0.004482	0	0
DLEC1	9940	broad.mit.edu	37	3	38104199	38104199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:38104199C>T	ENST00000308059.6	+	5	1022	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	DLEC1_ENST00000346219.3_Missense_Mutation_p.P334L|DLEC1_ENST00000452631.2_Missense_Mutation_p.P334L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	334					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGTTTTTTTCCTCCTAACACT	0.473000													25	29					0	0	0.003330	0	0
PDE1C	5137	broad.mit.edu	37	7	31867980	31867980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:31867980C>T	ENST00000396184.3	-	13	1415	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K	PDE1C_ENST00000396191.1_Missense_Mutation_p.R404K|PDE1C_ENST00000396193.1_Missense_Mutation_p.R464K|PDE1C_ENST00000321453.7_Missense_Mutation_p.R404K|PDE1C_ENST00000396182.2_Missense_Mutation_p.R404K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	404	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTGCTTCTCTGTCACCCTG	0.488000													10	19					0	0	0.000673	0	0
CYP17A1	1586	broad.mit.edu	37	10	104597026	104597026	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104597026G>A	ENST00000369887.3	-	1	264	c.93C>T	c.(91-93)ctC>ctT	p.L31L	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	31					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCAGGGACAGGAGGCTCTTGG	0.547000													21	58					0	0	0.002299	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207808	140207808	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140207808C>T	ENST00000529310.1	+	1	246	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.F44F|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGGA	0.662000													26	26					0	0	0.004656	0	0
OR1L3	26735	broad.mit.edu	37	9	125437507	125437507	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:125437507C>T	ENST00000304820.2	+	1	193	c.99C>T	c.(97-99)atC>atT	p.I33I		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTTTCTTATCATATACCTGG	0.443000													29	68					0	0	0.007291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917539	144917539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:144917539C>T	ENST00000529945.1	-	8	2493	c.2054G>A	c.(2053-2055)aGa>aAa	p.R685K	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R522K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R522K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R522K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R685K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R309K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R588K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R659K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R522K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R659K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	522					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCGCGCAGTCTCTCTAAGTC	0.468000			T	PDGFRB	MPD								73	500					0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61600840	61600840	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:61600840C>T	ENST00000583023.1	+	1	77	c.66C>T	c.(64-66)ttC>ttT	p.F22F	KCNH6_ENST00000580652.1_Silent_p.F22F|KCNH6_ENST00000314672.5_Silent_p.F22F|KCNH6_ENST00000581784.1_Silent_p.F22F|KCNH6_ENST00000456941.2_Silent_p.F22F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	22					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCGCAAGTTCGAGGGCCAAA	0.632000													8	26					0	0	0.004482	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:60377919C>T	ENST00000371204.3	-	3	481	c.438G>A	c.(436-438)agG>agA	p.R146R	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	146					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AACCAAAGTTCCTTAGTGCTG	0.438000													21	57					0	0	0.001523	0	0
LST3	0	broad.mit.edu	37	12	21175910	21175910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:21175910G>A	ENST00000381541.3	+	5	673	c.608G>A	c.(607-609)gGa>gAa	p.G203E	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G203E|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.G156E|LST3_ENST00000540229.1_Intron																							GCAAAAGAAGGACATTCTTCC	0.343000													5	28					0	0	0.000602	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249597	140249597	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140249597C>T	ENST00000398640.2	+	1	909	c.909C>T	c.(907-909)gtC>gtT	p.V303V	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGAGGGTCAATGGAACTT	0.393000													11	8					0	0	0.000978	0	0
C2CD3	26005	broad.mit.edu	37	11	73789508	73789508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73789508G>A	ENST00000334126.7	-	23	4481	c.4255C>T	c.(4255-4257)Cat>Tat	p.H1419Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.H1419Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1419						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCACACAATGGATGGGCAGC	0.498000													11	25					0	0	0.000978	0	0
DCX	1641	broad.mit.edu	37	X	110574251	110574251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:110574251C>T	ENST00000338081.3	-	5	1241	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	DCX_ENST00000371993.2_Missense_Mutation_p.G276E|DCX_ENST00000356915.2_Missense_Mutation_p.G276E|DCX_ENST00000356220.3_Missense_Mutation_p.G276E|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.G276E	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	357					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGATGGGTTTCCCTTCATGAC	0.532000													34	11					0	0	0.004878	0	0
CHD5	26038	broad.mit.edu	37	1	6202251	6202251	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:6202251C>T	ENST00000262450.3	-	15	2472	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	791	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCGTTCTCCCGAATCACCG	0.557000													37	67					0	0	0.005524	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555424	155555424	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:155555424T>C	ENST00000295101.2	+	1	614	c.137T>C	c.(136-138)tTc>tCc	p.F46S	KCNJ3_ENST00000544049.1_Missense_Mutation_p.F46S	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	46					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CGGCAGCGGTTCGTGGACAAG	0.642000													10	26					0	0	0.000978	0	0
STAB2	55576	broad.mit.edu	37	12	104142833	104142833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:104142833G>A	ENST00000388887.2	+	59	6541	c.6337G>A	c.(6337-6339)Gga>Aga	p.G2113R	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2113	EGF-like 16.				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						CTGCCAGAAGGGATACAAAGG	0.587000													18	23					0	0	0.004990	0	0
OBSCN	84033	broad.mit.edu	37	1	228432138	228432138	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:228432138C>A	ENST00000570156.2	+	12	3697	c.3623C>A	c.(3622-3624)tCc>tAc	p.S1208Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.S1116Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1116Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	152	Ig-like 12.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCTGAGCTCCAGCTCAAAA	0.637000													18	34					5.35267e-07	6.97193e-07	0.007413	1	0
SLC25A21	89874	broad.mit.edu	37	14	37153057	37153057	+	Missense_Mutation	SNP	G	G	A	rs149535012	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:37153057G>A	ENST00000331299.5	-	9	1329	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	SLC25A21_ENST00000555449.1_Missense_Mutation_p.P272S	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	272					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATAATCTTGGGAAGCAGGCCT	0.343000													7	32					0	0	0.003080	0	0
KRT5	3852	broad.mit.edu	37	12	52914057	52914057	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:52914057G>A	ENST00000252242.4	-	1	414	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	8	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCTCCGGAAGGACACACTTG	0.637000													7	1					0	0	0.006214	0	0
FAM76A	199870	broad.mit.edu	37	1	28071294	28071294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:28071294C>T	ENST00000373954.6	+	5	586	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	FAM76A_ENST00000234549.7_Missense_Mutation_p.R196C|FAM76A_ENST00000419687.2_Missense_Mutation_p.R111C|FAM76A_ENST00000010299.6_Missense_Mutation_p.R196C|FAM76A_ENST00000530324.1_Missense_Mutation_p.R162C|FAM76A_ENST00000373949.1_Missense_Mutation_p.R162C	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	162										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTATAGTCGCCTGAGTGG	0.488000													13	30					0	0	0.003163	0	0
SPRY1	10252	broad.mit.edu	37	4	124323681	124323681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:124323681C>T	ENST00000394339.2	+	2	1275	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SPRY1_ENST00000339241.1_Missense_Mutation_p.S312F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	312					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCTGCCCCTCCCGGGGTCAG	0.468000													28	50					0	0	0.002096	0	0
OR8H2	390151	broad.mit.edu	37	11	55873109	55873109	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55873109C>T	ENST00000313503.1	+	1	591	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	197					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)					ACACCGAAATCCTGATATTCA	0.388000										HNSCC(53;0.14)			26	70					0	0	0.003954	0	0
MAEL	84944	broad.mit.edu	37	1	166959060	166959060	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:166959060G>A	ENST00000367872.4	+	2	463	c.219G>A	c.(217-219)gaG>gaA	p.E73E	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	73					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGCCCTCAGAGAAGCAGGTAA	0.512000													8	35					0	0	0.003080	0	0
GET4	51608	broad.mit.edu	37	7	927100	927100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:927100C>T	ENST00000407192.1	+	3	2768	c.251C>T	c.(250-252)tCc>tTc	p.S84F	GET4_ENST00000265857.3_Missense_Mutation_p.S137F			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	137					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGTGGGGGCTCCGGGAAGCTG	0.637000													12	37					0	0	0.001368	0	0
FAM102A	399665	broad.mit.edu	37	9	130710457	130710457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:130710457G>A	ENST00000373095.1	-	6	884	c.509C>T	c.(508-510)tCc>tTc	p.S170F	FAM102A_ENST00000373084.4_Missense_Mutation_p.S28F|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	170	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CAGCTGCAGGGAGGAATCCTG	0.622000													13	29					0	0	0.003163	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724037	7724037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:7724037C>T	ENST00000303635.7	+	9	1637	c.1430C>T	c.(1429-1431)cCa>cTa	p.P477L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P477L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGAAGATTCCAGAAACCACC	0.597000			T	WWTR1	epitheliod hemangioendothelioma								14	38					0	0	0.004007	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840934	72840934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:72840934G>A	ENST00000377182.4	+	14	2664	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	683						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGACTTAAATGAAATTGAGTA	0.299000													12	50					0	0	0.003163	0	0
MYLPF	29895	broad.mit.edu	37	16	30387967	30387967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30387967G>A	ENST00000322861.7	+	5	385	c.304G>A	c.(304-306)Gga>Aga	p.G102R		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	102	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TGTGATCACCGGAGCCTTCAA	0.612000													5	11					0	0	0.003080	0	0
PLEC	5339	broad.mit.edu	37	8	144994766	144994766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:144994766G>A	ENST00000322810.4	-	32	9803	c.9634C>T	c.(9634-9636)Cgg>Tgg	p.R3212W	PLEC_ENST00000356346.3_Missense_Mutation_p.R3061W|PLEC_ENST00000354958.2_Missense_Mutation_p.R3053W|PLEC_ENST00000527096.1_Missense_Mutation_p.R3098W|PLEC_ENST00000436759.2_Missense_Mutation_p.R3102W|PLEC_ENST00000345136.3_Missense_Mutation_p.R3075W|PLEC_ENST00000398774.2_Missense_Mutation_p.R3043W|PLEC_ENST00000354589.3_Missense_Mutation_p.R3075W|PLEC_ENST00000357649.2_Missense_Mutation_p.R3079W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3212	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGTCAGCCGGGCGCTGGTG	0.657000													6	35					0	0	0.001984	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077429	23077429	+	RNA	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:23077429T>A	ENST00000390310.2	+	0	219																											AAACTCATGATTTATGAGGTC	0.577000													44	101					0	0	0.003214	0	0
IQCH	64799	broad.mit.edu	37	15	67664852	67664852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:67664852G>A	ENST00000335894.4	+	9	1223	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	IQCH_ENST00000358767.3_Missense_Mutation_p.R213K|IQCH_ENST00000546225.1_Missense_Mutation_p.R134K|IQCH_ENST00000360277.4_Missense_Mutation_p.R138K	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	386	IQ.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TACAAAGCAAGAAAATTCTTC	0.443000													23	48					0	0	0.002780	0	0
TAT	6898	broad.mit.edu	37	16	71610304	71610304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:71610304C>T	ENST00000355962.4	-	2	148	c.15G>A	c.(13-15)atG>atA	p.M5I	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	5					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCATCTGAATCATGTATGGGT	0.512000													16	41					0	0	0.007413	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223982	27223982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:27223982G>A	ENST00000361720.5	-	2	709	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	229						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTAGCGCCGGGAGGAACCTGT	0.577000													31	69					0	0	0.002096	0	0
BARD1	580	broad.mit.edu	37	2	215645294	215645294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:215645294G>A	ENST00000260947.4	-	4	1438	c.1304C>T	c.(1303-1305)gCt>gTt	p.A435V	BARD1_ENST00000449967.2_Missense_Mutation_p.A291V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	435					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTAATAGAAGCAATATGGAG	0.393000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	7					0	0	0.006214	0	0
CCDC109B	55013	broad.mit.edu	37	4	110585478	110585478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:110585478G>A	ENST00000394650.4	+	4	512	c.379G>A	c.(379-381)Gat>Aat	p.D127N		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	127						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TACCTTGATGGATATTTTGCT	0.333000													4	13					0	0	0.000602	0	0
HMCN1	83872	broad.mit.edu	37	1	186017936	186017936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:186017936G>A	ENST00000271588.4	+	42	6771	c.6542G>A	c.(6541-6543)gGa>gAa	p.G2181E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2181E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2181	Ig-like C2-type 19.				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						AATGTTGCTGGAAAAACTGAA	0.353000													14	36					0	0	0.006122	0	0
GNAS	2778	broad.mit.edu	37	20	57428970	57428970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:57428970G>A	ENST00000371100.4	+	1	1202	c.650G>A	c.(649-651)aGc>aAc	p.S217N	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.S217N|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S217N|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A154T	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGAGGCTACAGCCCTCCCCCT	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	5					0	0	0.004672	0	0
KLRK1	22914	broad.mit.edu	37	12	10539580	10539580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:10539580C>T	ENST00000240618.6	-	3	210	c.70G>A	c.(70-72)Gat>Aat	p.D24N	KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.D24N|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	24					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTCTTCAGATCCAAGTTATAA	0.338000													8	5					0	0	0.006214	0	0
COL13A1	1305	broad.mit.edu	37	10	71648064	71648064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:71648064C>T	ENST00000356340.3	+	7	1063	c.527C>T	c.(526-528)cCc>cTc	p.P176L	COL13A1_ENST00000398968.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398973.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398969.3_Missense_Mutation_p.P138L|COL13A1_ENST00000517713.1_Missense_Mutation_p.P176L|COL13A1_ENST00000354547.3_Missense_Mutation_p.P176L|COL13A1_ENST00000522165.1_Missense_Mutation_p.P176L|COL13A1_ENST00000357811.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398966.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398972.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398974.3_Missense_Mutation_p.P164L|COL13A1_ENST00000398971.3_Missense_Mutation_p.P176L|COL13A1_ENST00000520267.1_Missense_Mutation_p.P138L|COL13A1_ENST00000398978.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398964.3_Missense_Mutation_p.P147L|COL13A1_ENST00000520133.1_Missense_Mutation_p.P147L			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	176	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTTCAGGGTCCCATTGGGCTG	0.537000													7	11					0	0	0.003080	0	0
SPON1	10418	broad.mit.edu	37	11	14284296	14284296	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:14284296G>A	ENST00000310358.7	+	0	2570							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCAGTGGTCGGAATGTAACAA	0.532000													12	10					0	0	0.001368	0	0
CDK4	1019	broad.mit.edu	37	12	58143034	58143034	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:58143034G>A	ENST00000257904.6	-	7	1115	c.750C>T	c.(748-750)ccC>ccT	p.P250P	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Silent_p.P130P	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	250	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCCTCTGGGGGGAAAGGCTC	0.637000			Mis			melanoma			Hereditary Melanoma				16	33					0	0	0.004007	0	0
CR1	1378	broad.mit.edu	37	1	207789989	207789989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:207789989C>T	ENST00000367049.4	+	41	6731	c.6731C>T	c.(6730-6732)cCc>cTc	p.P2244L	CR1_ENST00000367053.1_Missense_Mutation_p.P1794L|CR1_ENST00000367051.1_Missense_Mutation_p.P1794L|CR1_ENST00000367052.1_Missense_Mutation_p.P1794L|CR1_ENST00000400960.2_Missense_Mutation_p.P1794L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1794					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAGATATTCCCTATGGAAAA	0.453000													31	43					0	0	0.002445	0	0
COBLL1	22837	broad.mit.edu	37	2	165551322	165551322	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:165551322G>A	ENST00000375458.2	-	11	2801	c.2580C>T	c.(2578-2580)gcC>gcT	p.A860A	COBLL1_ENST00000342193.4_Silent_p.A898A|COBLL1_ENST00000392717.2_Silent_p.A936A|COBLL1_ENST00000409184.3_Silent_p.A898A|COBLL1_ENST00000194871.6_Silent_p.A965A	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	936										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTTGGCCTGGGCATTTGAAG	0.433000													18	26					0	0	0.006122	0	0
PRSS1	5644	broad.mit.edu	37	7	142459670	142459670	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:142459670G>A	ENST00000486171.1	+	4	305	c.288G>A	c.(286-288)gaG>gaA	p.E96E	PRSS1_ENST00000311737.7_Silent_p.E82E			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	82	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AAGTCCTGGAGGGGAATGAGC	0.542000													8	122					0	0	0.006214	0	0
RFX4	5992	broad.mit.edu	37	12	107002601	107002601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:107002601G>A	ENST00000392842.1	+	2	484	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.E33K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	24					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATGTCTCAACGAAAGTGAAAA	0.343000													8	15					0	0	0.004482	0	0
FUT2	2524	broad.mit.edu	37	19	49206302	49206302	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49206302A>T	ENST00000425340.2	+	2	206	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	FUT2_ENST00000391876.4_Missense_Mutation_p.Q30L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	30					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CACGTTCAGCAGCGGCTAGCG	0.537000													39	96					0	0	0.006230	0	0
PSD	5662	broad.mit.edu	37	10	104174892	104174892	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104174892G>A	ENST00000020673.5	-	4	1378	c.852C>T	c.(850-852)tcC>tcT	p.S284S	PSD_ENST00000406432.1_Silent_p.S284S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	284					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGTCTGTCTCGGAGTACTTGG	0.662000													7	19					0	0	0.001984	0	0
PVRL3	25945	broad.mit.edu	37	3	110852704	110852704	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:110852704G>C	ENST00000485303.1	+	6	1567	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	431					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATAGGAGAAGACGGACGTTT	0.413000													37	58					0	0	0.003755	0	0
SHANK2	22941	broad.mit.edu	37	11	70331925	70331925	+	Silent	SNP	G	G	A	rs140434354		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:70331925G>A	ENST00000338508.4	-	32	4475	c.4476C>T	c.(4474-4476)atC>atT	p.I1492I	SHANK2_ENST00000449833.2_Silent_p.I896I|SHANK2_ENST00000423696.2_Silent_p.I1112I|SHANK2_ENST00000409161.1_Silent_p.I895I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1112					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain 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)			CCACCTCCTCGATCCCAGAGT	0.592000													13	22					0	0	0.003163	0	0
DSG2	1829	broad.mit.edu	37	18	29101149	29101149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:29101149G>A	ENST00000261590.8	+	5	675	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	DSG2_ENST00000585206.1_Missense_Mutation_p.E156K	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	156	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAATGACAACGAACCAGTGTT	0.373000													27	26					0	0	0.001786	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178396	140178396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:140178396C>T	ENST00000458420.3	+	7	1197	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	336					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTCTTGCCATCCCCTAGCGCT	0.557000										HNSCC(16;0.037)			20	43					0	0	0.004656	0	0
THSD7B	80731	broad.mit.edu	37	2	138413140	138413140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:138413140C>T	ENST00000409968.1	+	22	4193	c.4015C>T	c.(4015-4017)Cat>Tat	p.H1339Y	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.H1311Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.H1342Y					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCAATATCTCATGCAGCTGG	0.512000													6	6					0	0	0.003080	0	0
PRAMEF13	400736	broad.mit.edu	37	1	13448286	13448286	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:13448286G>A	ENST00000376132.3	-	4	1291	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	397										breast(1)|large_intestine(1)|lung(3)|skin(2)	7	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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGCAACAGGTCCTTCAGG	0.547000													22	42					0	0	0.001512	0	0
TNN	63923	broad.mit.edu	37	1	175106034	175106034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175106034G>A	ENST00000239462.4	+	17	3618	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1169	Fibrinogen C-terminal.				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)		GACTGCCAATGAATCTGCCTA	0.468000													7	25					0	0	0.003080	0	0
OR2A2	442361	broad.mit.edu	37	7	143807181	143807181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143807181G>A	ENST00000408979.2	+	1	575	c.506G>A	c.(505-507)gGg>gAg	p.G169E		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTTCTGTGGGCCCCGGGAT	0.527000													31	42					0	0	0.001512	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986749	44986749	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:44986749G>A	ENST00000296127.3	-	3	615	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ZDHHC3_ENST00000424952.2_Silent_p.F114F|ZDHHC3_ENST00000342790.4_Silent_p.F148F	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	114						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AACTCTCGATGAATTCTTTAG	0.517000													34	80					0	0	0.006230	0	0
AMOT	154796	broad.mit.edu	37	X	112024185	112024185	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:112024185T>A	ENST00000371959.3	-	9	2401	c.2402A>T	c.(2401-2403)cAc>cTc	p.H801L	AMOT_ENST00000371962.1_Missense_Mutation_p.H569L|AMOT_ENST00000371958.1_Missense_Mutation_p.H569L|AMOT_ENST00000524145.1_Missense_Mutation_p.H801L|AMOT_ENST00000304758.1_Missense_Mutation_p.H392L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	801					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGTGGATGAGTGGGAGAGCAA	0.537000													43	16					0	0	0.002222	0	0
ZWILCH	55055	broad.mit.edu	37	15	66811271	66811271	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:66811271G>A	ENST00000307897.5	+	5	755	c.375G>A	c.(373-375)aaG>aaA	p.K125K	ZWILCH_ENST00000565627.1_Silent_p.K11K|ZWILCH_ENST00000535141.2_Silent_p.K11K|RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_Silent_p.K11K	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	125					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CCCATTTGAAGATTAATCTGC	0.398000													8	26					0	0	0.003080	0	0
VARS	7407	broad.mit.edu	37	6	31747242	31747242	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:31747242G>A	ENST00000375663.3	-	28	3800	c.3360C>T	c.(3358-3360)tcC>tcT	p.S1120S		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1120					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGCCCGCAGGGAGCGCACGG	0.692000													54	38					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130354588	130354588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:130354588G>A	ENST00000358511.6	+	27	5105	c.5074G>A	c.(5074-5076)Gga>Aga	p.G1692R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1692R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1692	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGGCTGAAGGGAGCTAGAGG	0.383000													9	14					0	0	0.000978	0	0
COL27A1	85301	broad.mit.edu	37	9	116999285	116999285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:116999285C>T	ENST00000356083.3	+	18	3035	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	882	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCAGGGTTCCCCGGTGCACG	0.617000													8	19					0	0	0.006214	0	0
CD248	57124	broad.mit.edu	37	11	66083162	66083162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:66083162G>A	ENST00000311330.3	-	1	1353	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	446	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCGGGTGACGGAGAGCACTGA	0.657000													36	72					0	0	0.004878	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337432	22337432	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:22337432G>A	ENST00000390436.2	+	0	246																											AAATGTGGGCGAAAAGAAAGA	0.428000													65	97					0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	39023320	39023320	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:39023320C>T	ENST00000355481.4	+	77	11319	c.11188C>T	c.(11188-11190)Ctg>Ttg	p.L3730L	RYR1_ENST00000359596.3_Silent_p.L3735L|RYR1_ENST00000360985.3_Silent_p.L3735L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3735					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	GAGCTGCCACCTGGAGGAGGG	0.617000													7	29					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196834767	196834767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:196834767C>T	ENST00000312428.6	-	17	2210	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	704	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAAATTCTTCTGATTGCTTA	0.343000													16	48					0	0	0.004990	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596232	173596232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:173596232C>T	ENST00000333279.2	-	4	623	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	204										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCCCTGATCCCTTTTCTGT	0.358000													15	52					0	0	0.006122	0	0
NBEA	26960	broad.mit.edu	37	13	36125086	36125086	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:36125086C>T	ENST00000400445.3	+	43	7257	c.6723C>T	c.(6721-6723)ttC>ttT	p.F2241F	NBEA_ENST00000537702.1_Silent_p.F34F|NBEA_ENST00000379939.2_Silent_p.F2238F|NBEA_ENST00000310336.4_Silent_p.F2241F|NBEA_ENST00000540320.1_Silent_p.F2241F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2241						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTTAATTTCCCTGATCAAG	0.388000													6	22					0	0	0.001984	0	0
SAP130	79595	broad.mit.edu	37	2	128747283	128747283	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:128747283G>A	ENST00000357702.5	-	13	1844	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	SAP130_ENST00000259234.6_Silent_p.I545I|SAP130_ENST00000259235.3_Silent_p.I571I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	571					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGGCCGGCTGGATACCCTGGG	0.567000													24	34					0	0	0.004656	0	0
HERC2P2	400322	broad.mit.edu	37	15	23311732	23311732	+	RNA	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:23311732G>A	ENST00000560464.1	-	0	3372																											ACCGAGTCAGGGAGTGCAGCG	0.637000													8	23					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179634502	179634502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179634502G>A	ENST00000589042.1	-	37	9030	c.8806C>T	c.(8806-8808)Cat>Tat	p.H2936Y	TTN_ENST00000342175.6_Missense_Mutation_p.H2890Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2936Y|TTN_ENST00000359218.5_Missense_Mutation_p.H2890Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H2890Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2936Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2936Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2674	Ig-like 16.						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)			ATCAGCTGATGGAGTTTTCCC	0.478000													49	110					0	0	0.003610	0	0
ZNF404	342908	broad.mit.edu	37	19	44377618	44377618	+	Missense_Mutation	SNP	C	C	T	rs35756172		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44377618C>T	ENST00000587539.1	-	3	747	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E248K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTAAACGTTTCCCCACATTCC	0.388000													19	35					0	0	0.007413	0	0
KDM7A	80853	broad.mit.edu	37	7	139791834	139791834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:139791834G>A	ENST00000397560.2	-	19	2598	c.2501C>T	c.(2500-2502)tCa>tTa	p.S834L		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		834					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTAATTTCTGATGAACCTTC	0.418000													9	15					0	0	0.004482	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442830	20442830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:20442830C>T	ENST00000375105.3	-	2	239	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	61					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTACCAGTCCGTGGCATCT	0.527000										Multiple Myeloma(11;0.12)			20	27					0	0	0.001882	0	0
ZNF429	353088	broad.mit.edu	37	19	21720869	21720869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:21720869C>T	ENST00000358491.4	+	4	2222	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						agatcgagaccgtcctggcta	0.478000													3	2					0	0	0.004672	0	0
ACRC	93953	broad.mit.edu	37	X	70817803	70817803	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70817803C>T	ENST00000373695.1	+	6	762	c.225C>T	c.(223-225)tcC>tcT	p.S75S	ACRC_ENST00000373696.3_Silent_p.S75S			Q96QF7	ACRC_HUMAN	acidic repeat containing	75						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CACTCAGCTCCGTGGTAGTGA	0.398000													4	9					0	0	0.000602	0	0
DARS	1615	broad.mit.edu	37	2	136691503	136691503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:136691503G>A	ENST00000264161.4	-	6	696	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DARS_ENST00000537273.1_Missense_Mutation_p.R61W	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	161					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCCTCAGGCCGAACAGCATCA	0.388000													9	26					0	0	0.000978	0	0
PTGS2	5743	broad.mit.edu	37	1	186648524	186648524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:186648524C>T	ENST00000367468.5	-	2	235	c.99G>A	c.(97-99)atG>atA	p.M33I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	33	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ATCCCACACTCATACATACAC	0.408000													16	23					0	0	0.004007	0	0
BRINP1	1620	broad.mit.edu	37	9	122011343	122011343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:122011343G>A	ENST00000265922.3	-	3	765	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	DBC1_ENST00000373964.2_Nonsense_Mutation_p.Q102*	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		102	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATGCTCCTTTGAAACTCCGGC	0.552000													18	23					0	0	0.006122	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626916	108626916	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:108626916A>C	ENST00000264047.2	+	9	1618	c.1342A>C	c.(1342-1344)Act>Cct	p.T448P	SLC5A7_ENST00000540517.1_Missense_Mutation_p.T343P|SLC5A7_ENST00000409059.1_Missense_Mutation_p.T448P	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	448					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTGAGAATAACTGGAGGGGA	0.438000													26	31					0	0	0.007291	0	0
IMPG2	50939	broad.mit.edu	37	3	100961713	100961713	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:100961713C>T	ENST00000193391.7	-	14	3028	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	947	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTAAGTTCTGGAACCCCG	0.423000													12	26					0	0	0.001855	0	0
POTEG	404785	broad.mit.edu	37	14	19573136	19573136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:19573136G>A	ENST00000409832.3	+	8	1286	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	412										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TAAGGGTGGTGATAGAAAGGT	0.323000													5	45					0	0	0.003080	0	0
DOK5	55816	broad.mit.edu	37	20	53205106	53205106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:53205106G>A	ENST00000262593.5	+	3	609	c.259G>A	c.(259-261)Gat>Aat	p.D87N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	87	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTCAATGACGATACCTCCAA	0.418000													28	60					0	0	0.002096	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450194	105450194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105450194G>A	ENST00000337685.2	+	5	1554	c.769G>A	c.(769-771)Gag>Aag	p.E257K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.E257K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E257K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	257										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGAAAGAAGAGAGCGAGGA	0.453000													8	4					0	0	0.003080	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206705	160206705	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:160206705G>A	ENST00000392783.2	-	28	4872	c.4377C>T	c.(4375-4377)ttC>ttT	p.F1459F	BAZ2B_ENST00000355831.2_Silent_p.F1425F|BAZ2B_ENST00000343439.5_Silent_p.F1359F|BAZ2B_ENST00000392782.1_Silent_p.F1423F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1459					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						GTTTCTGAAGGAATAGATTTG	0.378000													9	29					0	0	0.006214	0	0
FMN2	56776	broad.mit.edu	37	1	240370124	240370124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:240370124G>A	ENST00000319653.9	+	5	2242	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	671					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGTCTGAGGGACAGGCCACT	0.428000													13	25					0	0	0.004007	0	0
TMEM131	23505	broad.mit.edu	37	2	98453576	98453576	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:98453576G>A	ENST00000186436.5	-	8	996	c.768C>T	c.(766-768)ctC>ctT	p.L256L	TMEM131_ENST00000425805.2_Silent_p.L207L	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	256						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACCCGTTGGGAGTTCTAGGT	0.438000													13	41					0	0	0.001855	0	0
TLN2	83660	broad.mit.edu	37	15	62942303	62942303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:62942303C>T	ENST00000561311.1	+	4	387	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	TLN2_ENST00000306829.6_Missense_Mutation_p.L53F			Q9Y4G6	TLN2_HUMAN	talin 2	53					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						TGGACTCTTTCTTTCGGATGA	0.493000													20	50					0	0	0.001523	0	0
SYT9	143425	broad.mit.edu	37	11	7439308	7439308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:7439308C>T	ENST00000318881.6	+	5	1523	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	429	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATGTCCCTCCCGAGAACATT	0.478000													18	25					0	0	0.002299	0	0
KIAA1009	22832	broad.mit.edu	37	6	84859352	84859352	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:84859352G>T	ENST00000403245.3	-	24	3814	c.3700C>A	c.(3700-3702)Ctt>Att	p.L1234I	KIAA1009_ENST00000257766.4_Missense_Mutation_p.L1158I|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1234					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTGGCAAAGGAGTTTCTCT	0.373000													29	14					5.77227e-19	7.59593e-19	0.001512	1	0
ZNF248	57209	broad.mit.edu	37	10	38121311	38121311	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:38121311G>A	ENST00000395867.3	-	6	1522	c.972C>T	c.(970-972)ctC>ctT	p.L324L	ZNF248_ENST00000357328.4_Silent_p.L324L|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TATATTCACGGAGAATCTTTC	0.353000													20	41					0	0	0.001523	0	0
HDAC9	9734	broad.mit.edu	37	7	18688097	18688097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:18688097C>T	ENST00000406451.3	+	11	1399	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	HDAC9_ENST00000405010.3_Missense_Mutation_p.P417S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P340S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P404S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P417S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P373S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P415S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P389S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P376S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P420S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	417					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGTGGAGTTCCCTTACATCC	0.428000													14	27					0	0	0.003163	0	0
PCSK1	5122	broad.mit.edu	37	5	95730586	95730586	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:95730586C>T	ENST00000311106.3	-	13	2103	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.K575K	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	622					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCCACCATCTTCTCCACCC	0.502000													27	17					0	0	0.001786	0	0
SYT12	91683	broad.mit.edu	37	11	66813297	66813297	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:66813297C>T	ENST00000393946.2	+	10	2203	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SYT12_ENST00000527043.1_Silent_p.N347N|SYT12_ENST00000525457.1_Silent_p.N347N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	347	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ATGACCCCAACCCGGTGTTCA	0.612000													18	21					0	0	0.006122	0	0
KRT83	3889	broad.mit.edu	37	12	52708528	52708528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:52708528C>T	ENST00000293670.3	-	9	1431	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	457	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACTGCAGACGCTGCCCGTC	0.672000													5	8					0	0	0.000602	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036042	9036042	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:9036042A>T	ENST00000383836.3	-	19	2820	c.2393T>A	c.(2392-2394)aTa>aAa	p.I798K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.I774K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	798					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGTACAACTATGTACTGATG	0.562000			T	RAF1	pilocytic astrocytoma								12	24					0	0	0.001855	0	0
IL36B	27177	broad.mit.edu	37	2	113783693	113783693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:113783693C>T	ENST00000259213.4	-	5	485	c.378G>A	c.(376-378)tgG>tgA	p.W126*		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	126					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ctcctattccccattggtcaa	0.473000													6	14					0	0	0.001168	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783992	33783992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:33783992G>A	ENST00000403687.3	+	17	2699	c.1959G>A	c.(1957-1959)tgG>tgA	p.W653*	RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.W652*|RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.W653*|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	653					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTGCCAAATGGGAAAATGAGA	0.532000													19	31					0	0	0.006122	0	0
PLCG1	5335	broad.mit.edu	37	20	39791897	39791897	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:39791897C>T	ENST00000373272.2	+	8	1176	c.771C>T	c.(769-771)ttC>ttT	p.F257F	PLCG1_ENST00000373271.1_Silent_p.F257F|PLCG1_ENST00000244007.3_Silent_p.F257F	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	257					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCCAGCAGTTCCTTCTTGACT	0.597000													33	41					0	0	0.004878	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596233	173596233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:173596233C>T	ENST00000333279.2	-	4	622	c.562G>A	c.(562-564)Gga>Aga	p.G188R		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	204										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTCCCTGATCCCTTTTCTGTG	0.353000													15	53					0	0	0.006122	0	0
SRCAP	10847	broad.mit.edu	37	16	30740727	30740727	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30740727C>T	ENST00000262518.4	+	27	6346	c.5961C>T	c.(5959-5961)ccC>ccT	p.P1987P	SRCAP_ENST00000344771.4_Silent_p.P1829P|SRCAP_ENST00000395059.2_Silent_p.P1925P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1987					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCTCCCCCTTCCCTGC	0.587000													17	17					0	0	0.004007	0	0
MAEA	10296	broad.mit.edu	37	4	1332318	1332318	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:1332318C>T	ENST00000303400.4	+	8	1071	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	MAEA_ENST00000264750.6_Silent_p.S295S|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000452175.2_Silent_p.S257S|MAEA_ENST00000514708.1_Silent_p.S268S|MAEA_ENST00000510794.1_Silent_p.S335S|MAEA_ENST00000505839.1_Silent_p.S288S|MAEA_ENST00000505177.2_Silent_p.S374S	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	336					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GTGCCAACTCCCGCCTGGTCT	0.622000													6	15					0	0	0.001168	0	0
OR2C3	81472	broad.mit.edu	37	1	247695288	247695288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:247695288C>T	ENST00000366487.3	-	2	887	c.526G>A	c.(526-528)Gac>Aac	p.D176N	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	176					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)			AAGAAGTGGTCGATGCAATTG	0.552000													11	8					0	0	0.000978	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345503	89345503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:89345503G>A	ENST00000301030.4	-	9	7907	c.7447C>T	c.(7447-7449)Ctc>Ttc	p.L2483F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2483F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2483						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTTGCTGAGCGGCTTGCCG	0.657000													6	11					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92531158	92531158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:92531158C>T	ENST00000298047.6	+	9	4996	c.4979C>T	c.(4978-4980)tCc>tTc	p.S1660F	FAT3_ENST00000409404.2_Missense_Mutation_p.S1660F|FAT3_ENST00000525166.1_Missense_Mutation_p.S1510F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1660	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGCGCATTTCCGTCACCATG	0.438000										TCGA Ovarian(4;0.039)			126	274					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21031009	21031009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:21031009C>T	ENST00000261383.3	-	41	5958	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1987					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTTATCATCCATGCCCATG	0.423000													19	41					0	0	0.001216	0	0
DRD3	1814	broad.mit.edu	37	3	113850117	113850117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113850117G>A	ENST00000383673.2	-	6	1284	c.854C>T	c.(853-855)tCc>tTc	p.S285F	DRD3_ENST00000295881.7_Missense_Mutation_p.S285F|DRD3_ENST00000467632.1_Missense_Mutation_p.S285F|DRD3_ENST00000460779.1_Missense_Mutation_p.S285F	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	285					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGGACTCAGGGAATTCCGAGT	0.527000													53	97					0	0	0.003610	0	0
OR51I1	390063	broad.mit.edu	37	11	5462626	5462626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:5462626G>A	ENST00000380211.1	-	1	118	c.119C>T	c.(118-120)tCc>tTc	p.S40F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTACAATGGAGATCATGTA	0.517000													22	14					0	0	0.003954	0	0
VCAM1	7412	broad.mit.edu	37	1	101194910	101194910	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:101194910G>A	ENST00000294728.2	+	5	1277	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	VCAM1_ENST00000370119.4_Silent_p.L330L|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	392	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATAAGAAACTGGAAAAGGGAA	0.423000													25	59					0	0	0.007291	0	0
ATR	545	broad.mit.edu	37	3	142217461	142217461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:142217461G>A	ENST00000350721.4	-	32	5657	c.5536C>T	c.(5536-5538)Cga>Tga	p.R1846*	ATR_ENST00000383101.3_Nonsense_Mutation_p.R1782*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1846	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCATATCCTCGTTGGTAGGAG	0.343000								Other conserved DNA damage response genes					6	20					0	0	0.001984	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128819	46128819	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:46128819C>T	ENST00000362042.3	+	2	955	c.339C>T	c.(337-339)gtC>gtT	p.V113V	NFE2L1_ENST00000361665.3_Silent_p.V113V|NFE2L1_ENST00000357480.5_Silent_p.V113V|NFE2L1_ENST00000585291.1_Silent_p.V113V	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	113					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGGTCTGTCTCTGGCAGTC	0.632000													18	55					0	0	0.006122	0	0
IPO13	9670	broad.mit.edu	37	1	44422550	44422550	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:44422550C>T	ENST00000372343.3	+	5	1835	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	391					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CAGTCTACTTCCAGCTGGTGG	0.507000													21	33					0	0	0.001216	0	0
SH2B1	25970	broad.mit.edu	37	16	28880699	28880699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:28880699C>T	ENST00000337120.5	+	4	4595	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	SH2B1_ENST00000322610.8_Missense_Mutation_p.S435L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S435L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S435L|SH2B1_ENST00000545570.1_Missense_Mutation_p.S125L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.S99L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	435	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GACCGCCTGTCGCAGGGTAAG	0.642000													14	14					0	0	0.004990	0	0
TPO	7173	broad.mit.edu	37	2	1418267	1418267	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:1418267C>T	ENST00000345913.4	+	2	178	c.87C>T	c.(85-87)ctC>ctT	p.L29L	TPO_ENST00000382269.3_Silent_p.L29L|TPO_ENST00000349624.3_Silent_p.L29L|TPO_ENST00000346956.3_Silent_p.L29L|TPO_ENST00000382201.3_Silent_p.L29L|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.L29L|TPO_ENST00000382198.1_Silent_p.L29L|TPO_ENST00000329066.4_Silent_p.L29L|TPO_ENST00000539820.1_Silent_p.L29L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	29					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)	GGAAAGAACTCCTTTGGGGTA	0.458000													10	13					0	0	0.001855	0	0
MYO1H	283446	broad.mit.edu	37	12	109853353	109853353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109853353G>A	ENST00000310903.5	+	15	1583	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	MYO1H_ENST00000431443.2_Missense_Mutation_p.G503S			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGGTCCAAAGGGCCGAAAGAG	0.517000													3	2					0	0	0.000602	0	0
JKAMP	51528	broad.mit.edu	37	14	59951796	59951796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:59951796G>A	ENST00000554271.1	+	1	534	c.8G>A	c.(7-9)gGa>gAa	p.G3E	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Intron|JKAMP_ENST00000261247.9_Intron|JKAMP_ENST00000556985.1_Intron|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000356057.5_Missense_Mutation_p.G3E			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	0					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GAAATGAAAGGAGAAATTCAA	0.413000													34	51					0	0	0.004878	0	0
TDRKH	11022	broad.mit.edu	37	1	151747916	151747916	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:151747916C>T	ENST00000368822.1	-	10	2019	c.1386G>A	c.(1384-1386)ggG>ggA	p.G462G	TDRKH_ENST00000368823.1_Silent_p.G458G|TDRKH_ENST00000440583.2_Silent_p.G238G|TDRKH_ENST00000458431.2_Silent_p.G462G|TDRKH_ENST00000368827.6_Silent_p.G462G|TDRKH_ENST00000368824.3_Silent_p.G462G|TDRKH_ENST00000368825.3_Silent_p.G417G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	462							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTTGAGATCCCAGTCTGGA	0.443000													21	54					0	0	0.002780	0	0
SRRM2	23524	broad.mit.edu	37	16	2811958	2811958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:2811958C>T	ENST00000301740.8	+	11	1978	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	477	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCTCATACCCCCTCCCGTAG	0.562000													11	44					0	0	0.000978	0	0
RBAK	57786	broad.mit.edu	37	7	5105064	5105064	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:5105064C>T	ENST00000396912.1	+	5	2496	c.1977C>T	c.(1975-1977)gtC>gtT	p.V659V	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.V659V	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	659	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTGGGAAAGTCTTTTCTCAGA	0.413000													27	47					0	0	0.006320	0	0
RP1L1	94137	broad.mit.edu	37	8	10467030	10467030	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:10467030C>T	ENST00000382483.3	-	4	4801	c.4578G>A	c.(4576-4578)acG>acA	p.T1526T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1526					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCCTTCTCCGTCTTCTTCA	0.662000													12	9					0	0	0.003163	0	0
AGAP1	116987	broad.mit.edu	37	2	236957790	236957790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:236957790G>A	ENST00000409538.1	+	15	3111	c.2615G>A	c.(2614-2616)cGa>cAa	p.R872Q	AGAP1_ENST00000336665.5_Missense_Mutation_p.R607Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R499Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R660Q			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	660					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACCTTTCCCGAGTCCGATCT	0.572000													24	56					0	0	0.004656	0	0
DYRK3	8444	broad.mit.edu	37	1	206822100	206822100	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:206822100C>T	ENST00000367106.1	+	4	1970	c.1497C>T	c.(1495-1497)caC>caT	p.H499H	DYRK3_ENST00000367109.2_Silent_p.H519H|DYRK3_ENST00000367108.3_Silent_p.H499H|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	519	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CATTAAGACACCCTTGGATTA	0.498000													17	27					0	0	0.007413	0	0
EIF3B	8662	broad.mit.edu	37	7	2415157	2415157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2415157C>T	ENST00000360876.4	+	14	2079	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y	EIF3B_ENST00000397011.2_Missense_Mutation_p.H675Y	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	675					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTGGTGGAGCCATAAGGTGCA	0.582000													16	36					0	0	0.004990	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307491	140307491	+	Silent	SNP	C	C	T	rs116016831	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140307491C>T	ENST00000253807.2	+	1	1014	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P338P|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2												p.P338P(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCATGCCCCCGAACTGGACT	0.522000													26	23					0	0	0.005443	0	0
KDM8	79831	broad.mit.edu	37	16	27231785	27231785	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:27231785C>T	ENST00000286096.4	+	7	1238	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.H393H	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	355	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										ATGACACGCACCTTCTCCATA	0.592000													34	63					0	0	0.004289	0	0
FSIP2	401024	broad.mit.edu	37	2	186672381	186672381	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:186672381C>T	ENST00000343098.5	+	17	18615	c.18615C>T	c.(18613-18615)aaC>aaT	p.N6205N	FSIP2_ENST00000424728.1_Silent_p.N6116N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTCAGAAAACATAGTTGACT	0.393000													22	42					0	0	0.001882	0	0
PARM1	25849	broad.mit.edu	37	4	75971446	75971446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:75971446G>A	ENST00000307428.7	+	4	1134	c.922G>A	c.(922-924)Gat>Aat	p.D308N	PARM1_ENST00000513238.1_Missense_Mutation_p.D66N	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	308					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCTGTACGATGACTCCTA	0.438000													9	16					0	0	0.006214	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264624	99264624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:99264624C>T	ENST00000343703.5	-	6	739	c.353G>A	c.(352-354)aGa>aAa	p.R118K	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.R128K					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TGACCGTATTCTCTTCCATTC	0.388000													19	30					0	0	0.001882	0	0
SPATA20	64847	broad.mit.edu	37	17	48631790	48631790	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48631790C>T	ENST00000006658.6	+	15	2256	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	SPATA20_ENST00000356488.4_Silent_p.A696A|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.A652A	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	696					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCTCTCAGCCCAGCAGCAGA	0.647000													21	77					0	0	0.002780	0	0
TP53BP1	7158	broad.mit.edu	37	15	43720298	43720298	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43720298G>A	ENST00000263801.3	-	18	3981	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I	TP53BP1_ENST00000450115.2_Silent_p.I1248I|TP53BP1_ENST00000382044.4_Silent_p.I1248I|TP53BP1_ENST00000382039.3_Silent_p.I1248I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1243					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			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)		GTACTTCCCGGATTGTTCTCA	0.423000								Other conserved DNA damage response genes					37	70					0	0	0.004878	0	0
LRRC30	339291	broad.mit.edu	37	18	7231230	7231230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:7231230G>A	ENST00000383467.2	+	1	108	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	32										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCGTGGGACGATGCCCTGCT	0.617000													20	32					0	0	0.001523	0	0
BCL2A1	597	broad.mit.edu	37	15	80263401	80263401	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:80263401G>T	ENST00000267953.3	-	1	387	c.61C>A	c.(61-63)Cta>Ata	p.L21I	BCL2A1_ENST00000335661.6_Missense_Mutation_p.L21I	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	21					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGTATCTGTAGGACGCACTGC	0.468000													7	38					2.27111e-07	2.96017e-07	0.001368	1	0
MAN2B2	23324	broad.mit.edu	37	4	6611753	6611753	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:6611753C>T	ENST00000285599.3	+	13	2271	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	MAN2B2_ENST00000504248.1_Silent_p.S694S|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	745					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCTACGTTTCCTATGTGAACA	0.557000													5	19					0	0	0.001984	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428197	54428197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:54428197C>T	ENST00000566473.2	+	4	268	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	ANKFN1_ENST00000318698.2_Missense_Mutation_p.P90S			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	90										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACATAGTGCTCCCTCATCTCC	0.433000													17	41					0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21236096	21236096	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:21236096G>A	ENST00000233242.1	-	25	4279	c.4152C>T	c.(4150-4152)agC>agT	p.S1384S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1384					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGCCCGAAGGCTGAAATGGT	0.537000													106	240					0	0	0.003610	0	0
HFE2	148738	broad.mit.edu	37	1	145416753	145416753	+	Silent	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:145416753A>G	ENST00000336751.5	+	4	1336	c.1098A>G	c.(1096-1098)ttA>ttG	p.L366L	HFE2_ENST00000357836.5_Silent_p.L253L|HFE2_ENST00000497365.1_Silent_p.L140L|HFE2_ENST00000475797.1_Silent_p.L140L	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	366					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGATGTTTTAATTTCTGGTG	0.517000													14	20					0	0	0.002450	0	0
FNDC1	84624	broad.mit.edu	37	6	159653402	159653402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:159653402C>T	ENST00000297267.9	+	11	2058	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	FNDC1_ENST00000340366.6_Missense_Mutation_p.P557S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	620						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTCGGCCTCTCCTGCCCACCA	0.672000													9	7					0	0	0.006214	0	0
ACVRL1	94	broad.mit.edu	37	12	52312851	52312851	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:52312851T>A	ENST00000550683.1	+	8	1472	c.1371T>A	c.(1369-1371)tgT>tgA	p.C457*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.C269*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.C443*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	443	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AGGTGGTGTGTGTGGATCAGC	0.587000													27	28					0	0	0.003954	0	0
NPY1R	4886	broad.mit.edu	37	4	164246624	164246624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:164246624C>T	ENST00000296533.2	-	3	1517	c.986G>A	c.(985-987)aGa>aAa	p.R329K	NPY1R_ENST00000509586.1_Missense_Mutation_p.R86K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	329					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R329K(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGCAAGTCTCTCTGGAAGTT	0.423000													22	42					0	0	0.003330	0	0
USH2A	7399	broad.mit.edu	37	1	216040418	216040418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:216040418C>T	ENST00000366943.2	-	44	9162	c.8776G>A	c.(8776-8778)Gag>Aag	p.E2926K	USH2A_ENST00000307340.3_Missense_Mutation_p.E2926K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2926	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTCCTCTCTCTGGAAGACCA	0.463000										HNSCC(13;0.011)			24	32					0	0	0.003330	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073629	73073629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73073629G>A	ENST00000263674.3	+	14	5196	c.4846G>A	c.(4846-4848)Ggc>Agc	p.G1616S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1616					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCAGGCTCGGGCTTGGAGAT	0.706000													7	19					0	0	0.003080	0	0
GPALPP1	55425	broad.mit.edu	37	13	45594490	45594490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:45594490C>T	ENST00000361121.2	+	7	766	c.731C>T	c.(730-732)tCc>tTc	p.S244F	KIAA1704_ENST00000357537.3_Missense_Mutation_p.S74F|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.S244F			Q8IXQ4	K1704_HUMAN		244										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		AGGAAGTCATCCAGTAAGAAA	0.299000													35	54					0	0	0.002222	0	0
HLA-A	3105	broad.mit.edu	37	6	29910668	29910668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:29910668G>A	ENST00000396634.1	+	4	549	c.208G>A	c.(208-210)Gag>Aag	p.E70K	HLA-A_ENST00000376806.5_Missense_Mutation_p.E70K|HLA-A_ENST00000376802.2_Missense_Mutation_p.E70K|HLA-A_ENST00000376809.5_Missense_Mutation_p.E70K			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	70	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCAGAGGATGGAGCCGCGGGC	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	7					0	0	0.000673	0	0
AMN1	196394	broad.mit.edu	37	12	31862360	31862360	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:31862360C>A	ENST00000281471.6	-	2	204		c.e2-1		AMN1_ENST00000536761.1_Splice_Site|AMN1_ENST00000541541.1_Splice_Site|AMN1_ENST00000541931.1_Intron|AMN1_ENST00000542781.1_Intron|AMN1_ENST00000537562.1_Splice_Site	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)											breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCAAAGGCATCTGAAATACAA	0.353000													7	7					2.0095e-06	2.61562e-06	0.001984	1	0
PCM1	5108	broad.mit.edu	37	8	17883059	17883059	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:17883059C>T	ENST00000325083.8	+	38	6380	c.5941C>T	c.(5941-5943)Cta>Tta	p.L1981L	PCM1_ENST00000327578.8_Silent_p.L680L|PCM1_ENST00000519253.1_Silent_p.L1973L|PCM1_ENST00000524226.1_Silent_p.L1817L	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1981	Interaction with BBS4.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAAGGCAGATCTAAGAAAGAA	0.289000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								5	3					0	0	0.000602	0	0
AIFM3	150209	broad.mit.edu	37	22	21332232	21332232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:21332232C>T	ENST00000399167.2	+	16	1655	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	AIFM3_ENST00000405089.1_Missense_Mutation_p.P478L|AIFM3_ENST00000440238.2_Missense_Mutation_p.P472L|AIFM3_ENST00000333607.6_Missense_Mutation_p.P472L|AIFM3_ENST00000335375.5_Missense_Mutation_p.P460L|AIFM3_ENST00000399163.2_Missense_Mutation_p.P472L|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACCTTCCCCCTTGCCTGG	0.597000													9	14					0	0	0.006214	0	0
DSC2	1824	broad.mit.edu	37	18	28659828	28659828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:28659828G>A	ENST00000280904.6	-	11	2091	c.1648C>T	c.(1648-1650)Ctt>Ttt	p.L550F	DSC2_ENST00000251081.6_Missense_Mutation_p.L550F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	550	Cadherin 4.				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)			TCTGATGCAAGGACTGTAATA	0.378000													21	57					0	0	0.002299	0	0
PRCC	5546	broad.mit.edu	37	1	156752097	156752097	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:156752097C>T	ENST00000271526.4	+	2	764	c.492C>T	c.(490-492)ccC>ccT	p.P164P	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Silent_p.P164P	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	164					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGATGAACCCACAAAGAAGA	0.348000			T	TFE3	papillary renal								5	29					0	0	0.001984	0	0
FOCAD	54914	broad.mit.edu	37	9	20740333	20740333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:20740333C>T	ENST00000380249.1	+	7	750	c.386C>T	c.(385-387)aCc>aTc	p.T129I	FOCAD_ENST00000338382.6_Missense_Mutation_p.T129I	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	129						integral to membrane	binding										AGTATATATACCATTAGGTAA	0.284000													22	14					0	0	0.002780	0	0
TEX11	56159	broad.mit.edu	37	X	70073179	70073179	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70073179C>T	ENST00000395889.2	-	7	525		c.e7-1		TEX11_ENST00000374333.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11								protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCATATTCATCTAGAAGAGAG	0.348000													8	1					0	0	0.003080	0	0
LGALS12	85329	broad.mit.edu	37	11	63273993	63273993	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:63273993C>T	ENST00000255684.5	+	1	438	c.129C>T	c.(127-129)ttC>ttT	p.F43F	LGALS12_ENST00000340246.5_Silent_p.F43F|LGALS12_ENST00000394618.3_Silent_p.F43F	NM_001142536.1	NP_001136008.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	43					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CACCAGTCTTCCACCCGGTGA	0.552000													27	70					0	0	0.003755	0	0
MYO7A	4647	broad.mit.edu	37	11	76910665	76910665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76910665G>A	ENST00000409709.3	+	35	4926	c.4654G>A	c.(4654-4656)Ggg>Agg	p.G1552R	MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000458637.2_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1552	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACCCCGGCGGGGCCCTGTTC	0.637000													5	5					0	0	0.000602	0	0
TET1	80312	broad.mit.edu	37	10	70450796	70450796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70450796C>T	ENST00000373644.4	+	12	5845	c.5636C>T	c.(5635-5637)cCc>cTc	p.P1879L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1879					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCAGCACTCCCCACTGTACG	0.582000													21	23					0	0	0.001882	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245114	100245114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100245114C>T	ENST00000160382.5	-	8	818	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTAGCTTCTCCTTCTTCTTC	0.612000													21	50					0	0	0.006320	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149079	52149079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:52149079C>T	ENST00000360844.6	-	3	697	c.656G>A	c.(655-657)gGa>gAa	p.G219E	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	219	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CACCTGAGCTCCTTGGCGTTT	0.647000													16	17					0	0	0.002299	0	0
BRINP2	57795	broad.mit.edu	37	1	177226424	177226424	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:177226424G>A	ENST00000361539.4	+	4	885	c.573G>A	c.(571-573)ctG>ctA	p.L191L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		191						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGTGTCCCTGGAGACCCTGC	0.562000													8	31					0	0	0.004482	0	0
NLRP7	199713	broad.mit.edu	37	19	55451794	55451794	+	Silent	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55451794A>T	ENST00000446217.1	-	6	879	c.477T>A	c.(475-477)tcT>tcA	p.S159S	NLRP7_ENST00000448121.2_Silent_p.S131S|NLRP7_ENST00000592784.1_Silent_p.S131S|NLRP7_ENST00000340844.2_Silent_p.S131S|NLRP7_ENST00000328092.5_Silent_p.S131S|NLRP7_ENST00000590030.1_Silent_p.S131S|NLRP7_ENST00000588756.1_Silent_p.S131S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	131							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCAGACCAAAGACTGTTTCT	0.418000													110	205					0	0	0.003610	0	0
L1CAM	3897	broad.mit.edu	37	X	153134071	153134071	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153134071G>A	ENST00000370060.1	-	13	1680	c.1491C>T	c.(1489-1491)tgC>tgT	p.C497C	L1CAM_ENST00000361981.3_Silent_p.C492C|L1CAM_ENST00000370057.3_Silent_p.C497C|L1CAM_ENST00000543994.1_Silent_p.C499C|L1CAM_ENST00000361699.4_Silent_p.C497C|L1CAM_ENST00000538883.1_Silent_p.C499C|L1CAM_ENST00000370055.1_Silent_p.C492C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	497	Ig-like C2-type 5.		C -> Y (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAGCCAGGCAGAAGTAGC	0.552000													20	4					0	0	0.001523	0	0
CSMD2	114784	broad.mit.edu	37	1	34035068	34035068	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:34035068G>A	ENST00000373381.4	-	52	8213	c.8037C>T	c.(8035-8037)atC>atT	p.I2679I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2681	Sushi 17.					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)				TGCAGGAGAAGATGGCTGTTG	0.562000													12	35					0	0	0.001368	0	0
AKR1C4	1109	broad.mit.edu	37	10	5242283	5242283	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:5242283A>G	ENST00000380448.1	+	4	477	c.224A>G	c.(223-225)aAg>aGg	p.K75R	AKR1C4_ENST00000263126.1_Missense_Mutation_p.K75R|AKR1CL1_ENST00000445191.1_Intron			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	75					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GGCAGTGTGAAGAGAGAAGAC	0.418000													23	49					0	0	0.003954	0	0
WRN	7486	broad.mit.edu	37	8	30938511	30938511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:30938511C>T	ENST00000298139.5	+	9	1217	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	323					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTGAAGATTCAACTACTGGG	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				14	8					0	0	0.002450	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85515612	85515612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:85515612G>A	ENST00000393217.2	+	16	3576	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1172										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCAGATTCGAGAATTCAAC	0.343000													15	27					0	0	0.006122	0	0
QTRTD1	79691	broad.mit.edu	37	3	113795776	113795776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113795776G>A	ENST00000281273.4	+	7	990	c.733G>A	c.(733-735)Gag>Aag	p.E245K	QTRTD1_ENST00000485050.1_Missense_Mutation_p.E257K|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E139K|QTRTD1_ENST00000479882.1_Missense_Mutation_p.E122K	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	245					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						AGAGCTGCCGGAGGACAAGCC	0.542000													8	21					0	0	0.003080	0	0
WDR4	10785	broad.mit.edu	37	21	44282451	44282451	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:44282451G>A	ENST00000398208.2	-	5	566	c.507C>T	c.(505-507)atC>atT	p.I169I	WDR4_ENST00000330317.2_Silent_p.I169I|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	169					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGCTGACTCGGATCTTCTCGT	0.602000													8	8					0	0	0.004482	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671360	39671360	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:39671360C>T	ENST00000398930.1	+	4	531	c.177C>T	c.(175-177)atC>atT	p.I59I	KCNJ15_ENST00000398934.1_Silent_p.I59I|KCNJ15_ENST00000398932.1_Silent_p.I59I|KCNJ15_ENST00000328656.3_Silent_p.I59I|KCNJ15_ENST00000398938.2_Silent_p.I59I			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	59					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCACAGTTATCGACATGAAGT	0.483000													18	33					0	0	0.004990	0	0
CNBP	7555	broad.mit.edu	37	3	128889945	128889945	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:128889945G>A	ENST00000422453.2	-	4	553	c.393C>T	c.(391-393)gaC>gaT	p.D131D	CNBP_ENST00000502976.1_Silent_p.D124D|CNBP_ENST00000441626.2_Silent_p.D133D|CNBP_ENST00000504813.1_Silent_p.D121D|CNBP_ENST00000451728.2_Silent_p.D132D|CNBP_ENST00000446936.2_Silent_p.D126D|CNBP_ENST00000500450.2_Silent_p.D114D	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	131					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTTGGTGCAGTCTTTTTGAA	0.433000													19	17					0	0	0.003330	0	0
HIP1	3092	broad.mit.edu	37	7	75221720	75221720	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:75221720G>A	ENST00000336926.6	-	3	323	c.297C>T	c.(295-297)ttC>ttT	p.F99F	HIP1_ENST00000434438.2_Silent_p.F99F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	99	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAGTTTGTGGAACACATGGC	0.592000			T	PDGFRB	CMML								7	6					0	0	0.001984	0	0
GPRIN3	285513	broad.mit.edu	37	4	90171112	90171112	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:90171112G>A	ENST00000333209.3	-	2	668	c.150C>T	c.(148-150)gcC>gcT	p.A50A		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	50										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GTTCTGCAGGGGCACCTGAAA	0.567000													18	41					0	0	0.004990	0	0
DNAH7	56171	broad.mit.edu	37	2	196753008	196753008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:196753008C>T	ENST00000312428.6	-	33	5480	c.5380G>A	c.(5380-5382)Gtt>Att	p.V1794I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1794	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAAATTCAACCGAAACAGGG	0.328000													6	13					0	0	0.003080	0	0
ANK2	287	broad.mit.edu	37	4	114279687	114279687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:114279687C>T	ENST00000357077.4	+	38	9966	c.9913C>T	c.(9913-9915)Cct>Tct	p.P3305S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3272S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3272					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCAAAATTCCTGTAAGGAC	0.428000													23	60					0	0	0.006320	0	0
FAM47A	158724	broad.mit.edu	37	X	34148540	34148540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:34148540C>T	ENST00000346193.3	-	1	1907	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	619										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCATCAGCTCCCAGGTCTCC	0.433000													21	8					0	0	0.003954	0	0
ABAT	18	broad.mit.edu	37	16	8870231	8870231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:8870231G>A	ENST00000396600.2	+	14	2091	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	ABAT_ENST00000567812.1_Missense_Mutation_p.D400N|ABAT_ENST00000425191.2_Missense_Mutation_p.D385N|ABAT_ENST00000268251.8_Missense_Mutation_p.D385N|ABAT_ENST00000569156.1_Missense_Mutation_p.D385N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	385					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTGGCTGGGGGACCCGTCCAA	0.582000													27	26					0	0	0.001512	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31851278	31851278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:31851278G>A	ENST00000397525.1	-	9	1346	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P54S|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P212S|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P375S|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P375S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	375						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGTCCAGGAGAGAGGATG	0.383000													10	29					0	0	0.001855	0	0
CTSE	1510	broad.mit.edu	37	1	206331217	206331217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:206331217G>A	ENST00000360218.2	+	8	1185	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR|CTSE_ENST00000432969.2_Missense_Mutation_p.D286N	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGCCTGTCTGACAGACCTTG	0.478000													32	52					0	0	0.002096	0	0
JPH1	56704	broad.mit.edu	37	8	75227679	75227679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:75227679G>A	ENST00000342232.4	-	2	596	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	186					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGCCGGCCGGGCTGTCGGCG	0.701000													4	24					0	0	0.000248	0	0
TECTB	6975	broad.mit.edu	37	10	114044382	114044382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:114044382G>A	ENST00000369422.3	+	2	166	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	56	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCTGGCCCTCGGAGGGCTGTG	0.468000													15	25					0	0	0.003163	0	0
ELK4	2005	broad.mit.edu	37	1	205589704	205589704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:205589704G>A	ENST00000357992.4	-	3	809	c.470C>T	c.(469-471)tCc>tTc	p.S157F	ELK4_ENST00000289703.4_Missense_Mutation_p.S157F	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TACATTGGAGGAGTTCAAAGA	0.433000			T	SLC45A3	prostate								21	33					0	0	0.002780	0	0
COL22A1	169044	broad.mit.edu	37	8	139715590	139715590	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:139715590C>T	ENST00000303045.6	-	31	2964	c.2517_splice	c.e31-1	p.G840_splice	COL22A1_ENST00000435777.1_Splice_Site_p.G840_splice|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	840	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGCTTCACCCTAGATGGAG	0.458000										HNSCC(7;0.00092)			14	46					0	0	0.003163	0	0
COL6A2	1292	broad.mit.edu	37	21	47545180	47545180	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:47545180G>A	ENST00000300527.4	+	24	1875	c.1770_splice	c.e24-1	p.E591_splice	COL6A2_ENST00000409416.1_Splice_Site_p.E591_splice|COL6A2_ENST00000357838.4_Splice_Site_p.E591_splice|COL6A2_ENST00000397763.1_Splice_Site_p.E591_splice|COL6A2_ENST00000310645.5_Splice_Site_p.E591_splice	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	591	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCATTGCAGGAGTGTGACGT	0.687000													30	43					0	0	0.001951	0	0
LRP1B	53353	broad.mit.edu	37	2	141032011	141032011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:141032011C>T	ENST00000389484.3	-	85	14095	c.13124G>A	c.(13123-13125)aGt>aAt	p.S4375N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4375					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATATCTTCACTGTCTTTATT	0.383000										TSP Lung(27;0.18)			10	24					0	0	0.000978	0	0
PCDH15	65217	broad.mit.edu	37	10	55839163	55839163	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:55839163C>T	ENST00000373965.2	-	18	2434	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	PCDH15_ENST00000373957.3_Silent_p.G651G|PCDH15_ENST00000395438.1_Silent_p.G673G|PCDH15_ENST00000414778.1_Silent_p.G678G|PCDH15_ENST00000395432.2_Silent_p.G636G|PCDH15_ENST00000437009.1_Silent_p.G602G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.G284G|PCDH15_ENST00000395433.1_Silent_p.G651G|PCDH15_ENST00000395445.1_Silent_p.G680G|PCDH15_ENST00000373955.1_Silent_p.G673G|PCDH15_ENST00000395430.1_Silent_p.G673G|PCDH15_ENST00000320301.6_Silent_p.G673G|PCDH15_ENST00000361849.3_Silent_p.G673G|PCDH15_ENST00000395446.1_Silent_p.G673G|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	673	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGTGCTTTCCCTAAGGTTA	0.428000										HNSCC(58;0.16)			63	131					0	0	0.003610	0	0
FAM71D	161142	broad.mit.edu	37	14	67664893	67664893	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:67664893C>T	ENST00000556046.1	+	3	239	c.15C>T	c.(13-15)acC>acT	p.T5T				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	5										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AGAAGAACACCAGCAAGACTA	0.393000													15	20					0	0	0.004007	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729300	18729300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:18729300C>T	ENST00000600490.1	+	8	1083	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	TMEM59L_ENST00000262817.3_Nonsense_Mutation_p.Q300*			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	300						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTCAAGTTCCAGGTGGGTGG	0.642000													3	3					0	0	0.004672	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:87912231G>A	ENST00000380079.4	-	3	810	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.R237C	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000													16	36					0	0	0.006122	0	0
PSD4	23550	broad.mit.edu	37	2	113950646	113950646	+	Silent	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:113950646G>T	ENST00000245796.6	+	7	2055	c.1860G>T	c.(1858-1860)gtG>gtT	p.V620V	PSD4_ENST00000441564.2_Silent_p.V592V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	620	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGGCTGTGGCTGAGGAGT	0.627000													7	27					0.000157383	0.000204161	0.003080	1	0
GABRP	2568	broad.mit.edu	37	5	170215659	170215659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:170215659C>T	ENST00000518525.1	+	3	504	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	GABRP_ENST00000265294.4_Missense_Mutation_p.L14F|GABRP_ENST00000519598.1_Missense_Mutation_p.L14F|GABRP_ENST00000519385.1_Missense_Mutation_p.L14F			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	14						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTCTGAGTCTCTTCACTGA	0.557000													18	19					0	0	0.001882	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:139413214C>T	ENST00000277541.6	-	6	1003	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding (Potential).				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|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G310R(2)		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)		TGGCAGGTCCCGCCGTTCTGG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			14	16					0	0	0.001855	0	0
NCOA5	57727	broad.mit.edu	37	20	44692186	44692186	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44692186G>A	ENST00000290231.6	-	7	1127	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTTCCTGCAGGATGGCTTCAT	0.582000													17	26					0	0	0.004990	0	0
SLX4	84464	broad.mit.edu	37	16	3641088	3641088	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:3641088T>C	ENST00000294008.3	-	12	3191	c.2551A>G	c.(2551-2553)Atg>Gtg	p.M851V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	851	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATTTCTTCCATTTCTGCTTCA	0.502000								Direct reversal of damage					30	51					0	0	0.006320	0	0
UBASH3A	53347	broad.mit.edu	37	21	43864686	43864686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:43864686C>T	ENST00000319294.6	+	14	1812	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Missense_Mutation_p.S556F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	594	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACTCTGGACTCCTGCACGCGG	0.577000													37	120					0	0	0.006999	0	0
SYT16	83851	broad.mit.edu	37	14	62462984	62462984	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:62462984T>C	ENST00000430451.2	+	1	444	c.247T>C	c.(247-249)Tcc>Ccc	p.S83P	SYT16_ENST00000446982.2_Missense_Mutation_p.S83P	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGATGCAAATTCCTTGTTTCT	0.393000													21	76					0	0	0.001882	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375371	113375371	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113375371G>C	ENST00000316407.4	-	7	5568	c.5158C>G	c.(5158-5160)Cgt>Ggt	p.R1720G	KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1720G|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1720					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGTCCACACGACCCTGCATA	0.423000													19	35					0	0	0.007413	0	0
TLL1	7092	broad.mit.edu	37	4	166963230	166963230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:166963230G>A	ENST00000061240.2	+	11	1960	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	TLL1_ENST00000507499.1_Missense_Mutation_p.R438K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	438	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S437_R438delSR(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACAGACAGCAGAATGTGGATT	0.368000													12	56					0	0	0.004007	0	0
NRAP	4892	broad.mit.edu	37	10	115350452	115350452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:115350452C>T	ENST00000369358.4	-	40	5109	c.4865G>A	c.(4864-4866)aGg>aAg	p.R1622K	NRAP_ENST00000359988.3_Missense_Mutation_p.R1614K|NRAP_ENST00000360478.3_Missense_Mutation_p.R1579K|NRAP_ENST00000369360.3_Missense_Mutation_p.R1587K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1614						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCTGGCTCCTCTTGGCCTG	0.632000													20	68					0	0	0.001216	0	0
TRRAP	8295	broad.mit.edu	37	7	98592250	98592250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:98592250C>T	ENST00000359863.4	+	66	10255	c.10046C>T	c.(10045-10047)tCc>tTc	p.S3349F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S3320F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3338F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3349					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATGTTACTCCGTGGCGTTT	0.537000													40	88					0	0	0.002222	0	0
P4HA1	5033	broad.mit.edu	37	10	74806805	74806805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:74806805G>A	ENST00000412021.2	-	9	1288	c.955C>T	c.(955-957)Cct>Tct	p.P319S	P4HA1_ENST00000440381.1_Missense_Mutation_p.P319S|P4HA1_ENST00000263556.3_Missense_Mutation_p.P319S|P4HA1_ENST00000373008.2_Missense_Mutation_p.P319S|P4HA1_ENST00000394890.2_Missense_Mutation_p.P319S|P4HA1_ENST00000307116.2_Missense_Mutation_p.P319S	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	319						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAAATTTAGGATTACGGTTT	0.358000													20	32					0	0	0.001882	0	0
EML3	256364	broad.mit.edu	37	11	62378444	62378444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62378444G>A	ENST00000394773.2	-	4	780	c.473C>T	c.(472-474)tCc>tTc	p.S158F	EML3_ENST00000278845.4_Missense_Mutation_p.S159F|EML3_ENST00000494176.2_Missense_Mutation_p.S130F|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.S158F	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	158	Poly-Ser.					cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGATGAGGAGGAGGAAGAATT	0.612000													10	17					0	0	0.000673	0	0
ACPT	93650	broad.mit.edu	37	19	51297146	51297146	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:51297146G>A	ENST00000270593.1	+	8	780	c.778_splice	c.e8-1	p.G260_splice	ACPT_ENST00000270594.3_Splice_Site_p.G167_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	260						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATCCTCAGGGATCCTGCTGA	0.592000													46	83					0	0	0.003610	0	0
HAO2	51179	broad.mit.edu	37	1	119925619	119925619	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:119925619C>T	ENST00000361035.4	+	4	535	c.252C>T	c.(250-252)gcC>gcT	p.A84A	HAO2_ENST00000325945.3_Silent_p.A71A	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	71	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGATCAGTGCCCCTATTTGTA	0.557000													17	28					0	0	0.004990	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802125	95802125	+	Missense_Mutation	SNP	C	C	T	rs140198354		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:95802125C>T	ENST00000414645.2	+	19	2258	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	720						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ACTGTGATATCCTTCCAGTCT	0.343000													87	181					0	0	0.003610	0	0
ME1	4199	broad.mit.edu	37	6	84025120	84025120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:84025120C>T	ENST00000369705.3	-	6	729	c.613G>A	c.(613-615)Gat>Aat	p.D205N	ME1_ENST00000541327.1_Missense_Mutation_p.D39N|ME1_ENST00000543031.1_Missense_Mutation_p.D130N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	205					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TAGAGTGGATCTTTAAGTAAC	0.333000													23	14					0	0	0.003330	0	0
BDP1	55814	broad.mit.edu	37	5	70828250	70828250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:70828250C>T	ENST00000358731.4	+	26	6151	c.5888C>T	c.(5887-5889)cCg>cTg	p.P1963L	BDP1_ENST00000380675.2_Missense_Mutation_p.P100L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1963					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTGAGTGTACCGTTTGTAAGC	0.343000													8	13					0	0	0.004482	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039099	242039099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:242039099G>A	ENST00000391980.2	-	2	290	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F	MTERFD2_ENST00000407095.3_Missense_Mutation_p.L78F|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.L78F	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	78										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGCTTCTCAAGGAGGCACTGA	0.493000													30	38					0	0	0.001512	0	0
TBXAS1	6916	broad.mit.edu	37	7	139529266	139529266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:139529266C>T	ENST00000263552.6	+	5	618	c.80C>T	c.(79-81)gCc>gTc	p.A27V	TBXAS1_ENST00000448866.1_Missense_Mutation_p.A26V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A26V|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A26V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A27V|TBXAS1_ENST00000539806.1_Missense_Mutation_p.A27V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A27V|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A27V|TBXAS1_ENST00000455353.1_Missense_Mutation_p.A26V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A26V	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	26					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCTCTCTTGGCCCTCCTGAAA	0.587000													7	15					0	0	0.003080	0	0
SYBU	55638	broad.mit.edu	37	8	110598373	110598373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:110598373C>T	ENST00000399066.3	-	3	1164	c.437G>A	c.(436-438)aGc>aAc	p.S146N	SYBU_ENST00000533895.1_Missense_Mutation_p.S148N|SYBU_ENST00000419099.1_Missense_Mutation_p.S148N|SYBU_ENST00000533065.1_Missense_Mutation_p.S30N|SYBU_ENST00000528331.1_Missense_Mutation_p.S30N|SYBU_ENST00000532779.1_Missense_Mutation_p.S81N|SYBU_ENST00000440310.1_Missense_Mutation_p.S149N|SYBU_ENST00000408908.2_Missense_Mutation_p.S149N|SYBU_ENST00000424158.2_Missense_Mutation_p.S154N|SYBU_ENST00000408889.3_Missense_Mutation_p.S30N|SYBU_ENST00000433638.1_Missense_Mutation_p.S149N|SYBU_ENST00000528647.1_Missense_Mutation_p.S148N|SYBU_ENST00000446070.2_Missense_Mutation_p.S148N|SYBU_ENST00000422135.1_Missense_Mutation_p.S149N|SYBU_ENST00000276646.9_Missense_Mutation_p.S149N|SYBU_ENST00000529690.1_Missense_Mutation_p.S19N|SYBU_ENST00000533171.1_Missense_Mutation_p.S149N	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	149	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTCGAGGAGCTAAAATCAGC	0.532000													9	7					0	0	0.006214	0	0
RTN2	6253	broad.mit.edu	37	19	45996558	45996558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:45996558G>A	ENST00000590526.1	-	5	1197	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RTN2_ENST00000245923.4_Missense_Mutation_p.P298L|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron			O75298	RTN2_HUMAN	reticulon 2	298						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGTCCACAGAGGTGGGGACAA	0.522000													23	33					0	0	0.002299	0	0
EPX	8288	broad.mit.edu	37	17	56271413	56271413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:56271413G>A	ENST00000225371.5	+	5	664	c.554G>A	c.(553-555)tGg>tAg	p.W185*		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	185					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCTTCGGCTGGACCCCCAGC	0.612000													14	23					0	0	0.002450	0	0
DLGAP5	9787	broad.mit.edu	37	14	55647412	55647412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:55647412G>A	ENST00000247191.2	-	6	881	c.665C>T	c.(664-666)tCt>tTt	p.S222F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S222F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	222					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCTGTGGTAGATGAGACTGT	0.448000													22	84					0	0	0.003954	0	0
PADI1	29943	broad.mit.edu	37	1	17531800	17531800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:17531800C>T	ENST00000375471.4	+	1	180	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	30					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGTGGACATTCACAGGTAAGA	0.577000													4	19					0	0	0.000602	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606346	84606346	+	Silent	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:84606346T>C	ENST00000344803.2	+	4	1008	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCTCACCATCTTGAAGACTTT	0.478000													41	111					0	0	0.006999	0	0
RYR3	6263	broad.mit.edu	37	15	33831581	33831581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:33831581C>T	ENST00000389232.4	+	6	534	c.464C>T	c.(463-465)gCt>gTt	p.A155V	RYR3_ENST00000415757.3_Missense_Mutation_p.A155V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	155	MIR 1.				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)		ATACATCCTGCTTCCAAACAG	0.458000													7	5					0	0	0.004482	0	0
MSH4	4438	broad.mit.edu	37	1	76262711	76262711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:76262711C>T	ENST00000263187.3	+	1	145	c.41C>T	c.(40-42)cCg>cTg	p.P14L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	14					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCTTCTGCCCCGGCGGTTTCC	0.617000								Mismatch excision repair (MMR)					13	15					0	0	0.001855	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645474	122645474	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:122645474G>A	ENST00000195173.4	-	9	1204	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	SEMA5B_ENST00000357599.3_Silent_p.L301L|SEMA5B_ENST00000451055.2_Silent_p.L355L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	301	Sema.				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)		TTCTCCCGCAGGAAGAAGTAT	0.607000													4	12					0	0	0.000248	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802811	96802811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:96802811G>A	ENST00000371270.3	-	7	1079	c.985C>T	c.(985-987)Cat>Tat	p.H329Y	CYP2C8_ENST00000539050.1_Missense_Mutation_p.H243Y|CYP2C8_ENST00000535898.1_Missense_Mutation_p.H227Y	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	329					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAATTACATGATCAATCTCT	0.443000													9	34					0	0	0.000673	0	0
FAM102A	399665	broad.mit.edu	37	9	130710456	130710456	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:130710456G>A	ENST00000373095.1	-	6	885	c.510C>T	c.(508-510)tcC>tcT	p.S170S	FAM102A_ENST00000373084.4_Silent_p.S28S|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	170	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCAGCTGCAGGGAGGAATCCT	0.622000													12	29					0	0	0.002450	0	0
MCHR1	2847	broad.mit.edu	37	22	41077071	41077071	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:41077071G>A	ENST00000249016.4	+	2	1104	c.408G>A	c.(406-408)aaG>aaA	p.K136K	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.K136K	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	136					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CGGTCGTGAAGAAGTCCAAGC	0.542000													23	41					0	0	0.003330	0	0
MS4A10	341116	broad.mit.edu	37	11	60559780	60559780	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:60559780T>A	ENST00000308287.1	+	4	442	c.346T>A	c.(346-348)Tct>Act	p.S116T		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	116						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GAAGACCTTTTCTAAAACTTA	0.443000													29	81					0	0	0.005524	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683204	71683204	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:71683204C>T	ENST00000393524.2	-	17	4093	c.3360G>A	c.(3358-3360)gaG>gaA	p.E1120E	PHLPP2_ENST00000567016.1_Silent_p.E1222E|PHLPP2_ENST00000568954.1_Silent_p.E1187E|PHLPP2_ENST00000356272.3_Silent_p.E1187E|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1187						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGGAGAACTCTCTATGAGAG	0.532000													20	35					0	0	0.001523	0	0
STAG3	10734	broad.mit.edu	37	7	99799849	99799849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:99799849G>A	ENST00000426455.1	+	24	2856	c.2449G>A	c.(2449-2451)Ggg>Agg	p.G817R	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.G817R|STAG3_ENST00000394018.2_Missense_Mutation_p.G759R|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	817					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGATTGTTGGGGGCCGTGA	0.468000													37	68					0	0	0.006999	0	0
EPPK1	83481	broad.mit.edu	37	8	144945157	144945157	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:144945157C>T	ENST00000525985.1	-	2	2336	c.2265G>A	c.(2263-2265)ttG>ttA	p.L755L				P58107	EPIPL_HUMAN	epiplakin 1	755						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAACAGGATCAAGTTCAGCA	0.637000													26	99					0	0	0.001786	0	0
FRG1B	284802	broad.mit.edu	37	20	29623221	29623221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:29623221G>A	ENST00000278882.3	+	3	413	c.33G>A	c.(31-33)atG>atA	p.M11I	FRG1B_ENST00000439954.2_Missense_Mutation_p.G13S|FRG1B_ENST00000358464.4_Missense_Mutation_p.M11I																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTCGACAATGGTCTTTTTAC	0.413000													13	442					0	0	0.001368	0	0
FNDC3B	64778	broad.mit.edu	37	3	172048393	172048393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:172048393C>T	ENST00000336824.4	+	13	1541	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	FNDC3B_ENST00000415807.2_Missense_Mutation_p.P481L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.P481L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	481	Fibronectin type-III 3.			P -> L (in Ref. 2; AAQ88513).		endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTCTGCACCAAGGCTGGTT	0.493000													11	33					0	0	0.000978	0	0
COL6A3	1293	broad.mit.edu	37	2	238290009	238290009	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:238290009G>A	ENST00000295550.4	-	5	1898	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	COL6A3_ENST00000409809.1_Silent_p.I276I|COL6A3_ENST00000392003.2_Silent_p.I75I|COL6A3_ENST00000347401.3_Silent_p.I281I|COL6A3_ENST00000472056.1_Silent_p.I75I|COL6A3_ENST00000353578.4_Silent_p.I276I|COL6A3_ENST00000346358.4_Silent_p.I482I|COL6A3_ENST00000392004.3_Silent_p.I276I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	482	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCACCTGGATAAGATCCT	0.488000													17	37					0	0	0.004990	0	0
EIF4B	1975	broad.mit.edu	37	12	53427604	53427604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:53427604C>T	ENST00000262056.9	+	9	1320	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	EIF4B_ENST00000420463.3_Missense_Mutation_p.P332S|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P293S	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	332					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCCCAAAGACCCAAACTGAA	0.438000													17	36					0	0	0.001523	0	0
F5	2153	broad.mit.edu	37	1	169555578	169555578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:169555578G>A	ENST00000367796.3	-	1	248	c.47C>T	c.(46-48)aCc>aTc	p.T16I	F5_ENST00000367797.3_Missense_Mutation_p.T16I|F5_ENST00000546081.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	16					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TACCCAGCTGGTGCCCAAGAC	0.652000													9	21					0	0	0.000978	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182481	100182481	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:100182481G>A	ENST00000554176.1	+	4	1059	c.393G>A	c.(391-393)gaG>gaA	p.E131E	CYP46A1_ENST00000261835.3_Silent_p.E284E|CYP46A1_ENST00000423126.2_Silent_p.E187E			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	284					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CAGCTGAAGAGGGAGCCCAGG	0.512000													10	9					0	0	0.002450	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885999	88885999	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:88885999G>A	ENST00000319675.3	-	1	297	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	67										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTGCCAAAGAGGAGGGATCCC	0.517000													14	38					0	0	0.004007	0	0
CENPT	80152	broad.mit.edu	37	16	67865213	67865213	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67865213C>T	ENST00000562787.1	-	10	1157	c.609G>A	c.(607-609)caG>caA	p.Q203Q	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Silent_p.Q203Q|CENPT_ENST00000564817.1_Silent_p.Q203Q|CENPT_ENST00000440851.2_Silent_p.Q203Q|CENPT_ENST00000445712.2_Silent_p.Q100Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	203					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCCAGGCCTCTGCACTGACT	0.597000													7	22					0	0	0.004482	0	0
RIC3	79608	broad.mit.edu	37	11	8132470	8132470	+	Silent	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:8132470C>G	ENST00000396677.2	-	3	398	c.399G>C	c.(397-399)tcG>tcC	p.S133S	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.S246S|RIC3_ENST00000425599.2_Silent_p.S214S|RIC3_ENST00000335425.7_Silent_p.S113S|RIC3_ENST00000309737.6_Silent_p.S295S|RIC3_ENST00000343202.4_Silent_p.S294S			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	295						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTGGATCACACGAGGTAACAG	0.473000													33	30					0	0	0.002836	0	0
ZNF470	388566	broad.mit.edu	37	19	57089815	57089815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:57089815G>A	ENST00000330619.8	+	6	2704	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	ZNF470_ENST00000391709.3_Missense_Mutation_p.G673E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATTCATACTGGAGAAAGGCCC	0.423000													10	31					0	0	0.000978	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627290	108627290	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:108627290G>A	ENST00000264047.2	+	9	1992	c.1716G>A	c.(1714-1716)ggG>ggA	p.G572G	SLC5A7_ENST00000540517.1_Silent_p.G467G|SLC5A7_ENST00000409059.1_Silent_p.G572G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	572					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTCCAGAAGGGTCTGGGACTG	0.433000													8	14					0	0	0.004482	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401786	136401786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:136401786G>A	ENST00000393061.3	+	2	711	c.279G>A	c.(277-279)tgG>tgA	p.W93*	ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	499	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGGTCATCTGGAAGAGGATCG	0.602000													13	21					0	0	0.001855	0	0
PEX5L	51555	broad.mit.edu	37	3	179525587	179525587	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:179525587G>A	ENST00000467460.1	-	14	1881	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	PEX5L_ENST00000392649.3_Silent_p.T409T|PEX5L_ENST00000476138.1_Silent_p.T474T|PEX5L_ENST00000468741.1_Silent_p.T325T|PEX5L_ENST00000472994.1_Silent_p.T458T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Silent_p.T409T|PEX5L_ENST00000485199.1_Silent_p.T482T|PEX5L_ENST00000263962.8_Silent_p.T515T|PEX5L_ENST00000465751.1_Silent_p.T493T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	517					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGTTCGCCAAGGTCGCCCCGA	0.512000													39	74					0	0	0.002222	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341230	130341230	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:130341230G>T	ENST00000299164.2	+	7	2030	c.2030G>T	c.(2029-2031)gGa>gTa	p.G677V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	677	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGTGTGGGGGAGACAATAAG	0.572000													12	24					4.14922e-12	5.42285e-12	0.004007	1	0
SPARCL1	8404	broad.mit.edu	37	4	88411474	88411474	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:88411474C>T	ENST00000418378.1	-	8	2053	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	SPARCL1_ENST00000282470.6_Silent_p.G494G|SPARCL1_ENST00000503414.1_Silent_p.G369G	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	494	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCTTTTTGGTCCCCTCCAGTC	0.458000													85	173					0	0	0.003610	0	0
WDR90	197335	broad.mit.edu	37	16	708548	708548	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:708548C>T	ENST00000549091.1	+	23	2882	c.2790C>T	c.(2788-2790)ccC>ccT	p.P930P	WDR90_ENST00000293879.4_Silent_p.P930P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	930										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACCCTGAGCCCTGCCCCTCCT	0.662000													14	29					0	0	0.001216	0	0
OGT	8473	broad.mit.edu	37	X	70781708	70781708	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70781708C>T	ENST00000373719.3	+	15	2152	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	OGT_ENST00000373701.3_Silent_p.G635G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	645					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATACTAAGGGCGCTCGAAATG	0.383000													15	7					0	0	0.004990	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133953	38133953	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:38133953C>T	ENST00000317025.8	-	23	4450	c.3933G>A	c.(3931-3933)aaG>aaA	p.K1311K	WHSC1L1_ENST00000433384.2_Silent_p.K1262K|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Silent_p.K1300K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1311					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGTTTTGATCTTTCGTCTCT	0.403000			T	NUP98	AML								8	3					0	0	0.004482	0	0
FAM160B2	64760	broad.mit.edu	37	8	21957256	21957256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:21957256C>T	ENST00000289921.7	+	10	1239	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	398										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CTCCTCACAGCCATGCTGCGC	0.682000													5	8					0	0	0.000602	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:134134532G>A	ENST00000285930.4	-	4	448	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000													42	81					0	0	0.003610	0	0
XKR4	114786	broad.mit.edu	37	8	56436480	56436480	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:56436480C>T	ENST00000327381.5	+	3	1747	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	549						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TACGGTCCATCTCCAACAACC	0.592000													15	48					0	0	0.004990	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916114	97916114	+	RNA	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:97916114A>G	ENST00000534948.1	+	0	892							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTTTGTGATGAAAAACAAACT	0.289000													17	38					0	0	0.006122	0	0
FAT4	79633	broad.mit.edu	37	4	126369957	126369957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:126369957G>A	ENST00000394329.3	+	9	7799	c.7786G>A	c.(7786-7788)Gga>Aga	p.G2596R	FAT4_ENST00000335110.5_Missense_Mutation_p.G894R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2596	Cadherin 25.				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						CTCTTTAAGAGGAGAACCTAT	0.423000													4	13					0	0	0.000248	0	0
RGS3	5998	broad.mit.edu	37	9	116224415	116224415	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:116224415A>T	ENST00000374140.2	+	4	558	c.349A>T	c.(349-351)Aga>Tga	p.R117*	RGS3_ENST00000350696.5_Nonsense_Mutation_p.R117*	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	117					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTGCCCAGAAGAGATGAGTG	0.547000													34	39					0	0	0.003271	0	0
LPHN3	23284	broad.mit.edu	37	4	62897274	62897274	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:62897274C>T	ENST00000512091.1	+	22	4080	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	LPHN3_ENST00000506700.1_Silent_p.F1102F|LPHN3_ENST00000506746.1_Silent_p.F1170F|LPHN3_ENST00000508946.1_Silent_p.F1111F|LPHN3_ENST00000506720.1_Silent_p.F1179F|LPHN3_ENST00000514996.1_Silent_p.F1102F|LPHN3_ENST00000509896.1_Silent_p.F1179F|LPHN3_ENST00000508693.1_Silent_p.F1179F|LPHN3_ENST00000545650.1_Silent_p.F1111F|LPHN3_ENST00000514591.1_Silent_p.F1111F|LPHN3_ENST00000514157.1_Silent_p.F1102F|LPHN3_ENST00000507164.1_Silent_p.F1170F|LPHN3_ENST00000504896.1_Silent_p.F1111F|LPHN3_ENST00000507625.1_Silent_p.F1170F|LPHN3_ENST00000511324.1_Silent_p.F1170F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1089					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCACCATTTTCAATTCTCTAC	0.348000													25	40					0	0	0.003954	0	0
OR5M11	219487	broad.mit.edu	37	11	56310298	56310298	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56310298A>T	ENST00000528616.2	-	1	459	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACATAGGGAAATGTGGCCAAG	0.517000													6	17					0	0	0.001168	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679471	75679471	+	Silent	SNP	C	C	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:75679471C>G	ENST00000370855.5	-	22	1994	c.1881G>C	c.(1879-1881)ctG>ctC	p.L627L	SLC44A5_ENST00000535611.1_Silent_p.L497L|SLC44A5_ENST00000370859.3_Silent_p.L627L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	627						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATAGGAAGGCCAGAACACCTA	0.368000													28	53					0	0	0.007291	0	0
TMTC3	160418	broad.mit.edu	37	12	88589038	88589038	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:88589038A>G	ENST00000266712.6	+	14	2577	c.2357A>G	c.(2356-2358)gAc>gGc	p.D786G		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	787						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAGAAAAAGACTTATTAAAA	0.343000													24	36					0	0	0.003330	0	0
PTH1R	5745	broad.mit.edu	37	3	46935487	46935487	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:46935487C>T	ENST00000449590.1	+	4	369	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Silent_p.L56L|PTH1R_ENST00000430002.2_Silent_p.L56L|PTH1R_ENST00000418619.1_Silent_p.L56L	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	56						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CAAGGAGGTCCTGCAGAGGCC	0.602000													8	19					0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51901259	51901259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:51901259G>A	ENST00000268919.4	+	1	1021	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	289	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCACTGGTGGAGTCCATCTT	0.577000													26	22					0	0	0.004656	0	0
TDO2	6999	broad.mit.edu	37	4	156839358	156839358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:156839358C>T	ENST00000536354.2	+	11	1098	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	345					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ACCGGTGGTTCCTCAGGCTAT	0.468000													10	25					0	0	0.001855	0	0
SAMD3	154075	broad.mit.edu	37	6	130530700	130530700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:130530700G>A	ENST00000532763.1	-	4	446	c.317C>T	c.(316-318)tCt>tTt	p.S106F	SAMD3_ENST00000368134.2_Missense_Mutation_p.S108F|SAMD3_ENST00000437477.2_Missense_Mutation_p.S108F|SAMD3_ENST00000457563.2_Missense_Mutation_p.S132F|SAMD3_ENST00000324172.6_Missense_Mutation_p.S108F|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.S108F			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	108										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGATAGAAAGATGGCATCTG	0.443000													17	16					0	0	0.001216	0	0
GAS6	2621	broad.mit.edu	37	13	114530089	114530089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:114530089C>T	ENST00000357389.3	-	12	1638	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.G399R|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.G154R|GAS6_ENST00000327773.6_Missense_Mutation_p.G453R|GAS6_ENST00000450766.1_Missense_Mutation_p.G180R			Q14393	GAS6_HUMAN	growth arrest-specific 6	496	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GTGTCTTCTCCGTTCAGCCAG	0.577000													23	23					0	0	0.003330	0	0
NRAS	4893	broad.mit.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	G	rs121913237		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:115258747C>G	ENST00000369535.4	-	2	288	c.35G>C	c.(34-36)gGt>gCt	p.G12A		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493000	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			45	58					0	0	0.003610	0	0
SULT2A1	6822	broad.mit.edu	37	19	48386976	48386976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:48386976G>A	ENST00000222002.3	-	2	342	c.203C>T	c.(202-204)tCt>tTt	p.S68F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GATGGGCACAGATTGGATCCA	0.483000													13	24					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113358332	113358332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:113358332C>T	ENST00000297405.5	-	41	6680	c.6436G>A	c.(6436-6438)Ggt>Agt	p.G2146S	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2106S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2042S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2076S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2146	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACCAAAACCTATGGGTAGA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	24					0	0	0.003610	0	0
RASD2	23551	broad.mit.edu	37	22	35947680	35947680	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35947680C>T	ENST00000216127.4	+	3	1044	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	134					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGGAGCTGCCCATGGTCATCT	0.622000													9	18					0	0	0.000673	0	0
CCDC92	80212	broad.mit.edu	37	12	124422110	124422110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:124422110G>A	ENST00000545135.1	-	3	3736	c.440C>T	c.(439-441)gCc>gTc	p.A147V	CCDC92_ENST00000238156.3_Missense_Mutation_p.A164V|CCDC92_ENST00000545891.1_Missense_Mutation_p.A147V|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	164										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CTTCTTGGCGGCGTGCAGCTG	0.647000													26	31					0	0	0.005443	0	0
DGKB	1607	broad.mit.edu	37	7	14620487	14620487	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:14620487C>T	ENST00000403951.2	-	19	2031	c.1612_splice	c.e19+1	p.G538_splice	DGKB_ENST00000402815.1_Splice_Site_p.G537_splice|DGKB_ENST00000444700.2_Splice_Site_p.G519_splice|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Splice_Site_p.G538_splice|DGKB_ENST00000407950.1_Splice_Site_p.G530_splice|DGKB_ENST00000406247.3_Splice_Site_p.G538_splice|DGKB_ENST00000258767.5_Splice_Site_p.G538_splice			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	538	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCTGCTTTACCTCCTCCCCAT	0.438000													11	34					0	0	0.001855	0	0
SORCS3	22986	broad.mit.edu	37	10	106737200	106737200	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:106737200C>T	ENST00000369701.3	+	4	1130	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	301						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAGCCTGCTCTTTCATCCCA	0.458000													11	34					0	0	0.001855	0	0
POTEM	641455	broad.mit.edu	37	14	20019959	20019959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20019959C>T	ENST00000551509.1	-	1	313	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	88										endometrium(4)|kidney(1)|lung(4)	9						ATAGCAGAGTCGTCGTGGTCT	0.627000													20	287					0	0	0.007291	0	0
DENND4B	9909	broad.mit.edu	37	1	153906042	153906042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:153906042G>A	ENST00000361217.4	-	20	3665	c.3247C>T	c.(3247-3249)Cct>Tct	p.P1083S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1083										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAGGTCAGGAGGCAGCTCA	0.711000													6	21					0	0	0.001984	0	0
LRP2	4036	broad.mit.edu	37	2	170135925	170135925	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:170135925T>C	ENST00000263816.3	-	12	1807	c.1522A>G	c.(1522-1524)Aac>Gac	p.N508D	LRP2_ENST00000443831.1_Missense_Mutation_p.N508D	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	508					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCCCCAAGTTTTCAGTTATA	0.398000													35	63					0	0	0.006230	0	0
PDILT	204474	broad.mit.edu	37	16	20376851	20376851	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:20376851G>A	ENST00000302451.4	-	9	1376	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	376					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCTCTTCACTGGATTGATGTT	0.453000													30	69					0	0	0.002836	0	0
KCNS1	3787	broad.mit.edu	37	20	43723761	43723761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:43723761C>T	ENST00000306117.1	-	5	1727	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	KCNS1_ENST00000537075.1_Missense_Mutation_p.G444E	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	444						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAGGATGCCCCCTAGGATGCA	0.622000													17	22					0	0	0.004990	0	0
SP140L	93349	broad.mit.edu	37	2	231254709	231254709	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:231254709G>C	ENST00000243810.6	+	11	935	c.935G>C	c.(934-936)gGa>gCa	p.G312A	SP140L_ENST00000444636.1_Missense_Mutation_p.G312A|SP140L_ENST00000396563.4_Intron|SP140L_ENST00000415673.2_Missense_Mutation_p.G312A			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	312	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGGGTGAAGGGAATTTTACAT	0.398000													10	27					0	0	0.001855	0	0
MYL10	93408	broad.mit.edu	37	7	101256766	101256766	+	Missense_Mutation	SNP	C	C	T	rs147592822	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:101256766C>T	ENST00000223167.4	-	8	847	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	224	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TAATCCTTCTCTTCACCGTGA	0.537000													14	51					0	0	0.003163	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059987	47059987	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:47059987C>T	ENST00000406902.1	+	8	903	c.690C>T	c.(688-690)tcC>tcT	p.S230S	GRAMD4_ENST00000361034.3_Silent_p.S230S			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	230					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACTGGTACTCCGTCTACACGT	0.597000													27	55					0	0	0.001786	0	0
RYR2	6262	broad.mit.edu	37	1	237777781	237777781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237777781G>A	ENST00000366574.2	+	37	5670	c.5353G>A	c.(5353-5355)Gac>Aac	p.D1785N	RYR2_ENST00000542537.1_Missense_Mutation_p.D1769N|RYR2_ENST00000360064.6_Missense_Mutation_p.D1783N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1785	4 X approximate repeats.				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)			GTTCCCACTGGACATCCTCAA	0.507000													33	54					0	0	0.002445	0	0
PVRL4	81607	broad.mit.edu	37	1	161047403	161047403	+	Silent	SNP	T	T	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:161047403T>G	ENST00000368012.3	-	3	872	c.570A>C	c.(568-570)acA>acC	p.T190T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	190	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCTGGACGTTGTGCCTTTGA	0.637000													13	31					0	0	0.001855	0	0
PRB2	653247	broad.mit.edu	37	12	11546356	11546356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:11546356C>T	ENST00000389362.4	-	3	691	c.656G>A	c.(655-657)gGa>gAa	p.G219E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.607000													46	52					0	0	0.003610	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890648	2890648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:2890648G>A	ENST00000380698.4	-	7	969	c.880C>T	c.(880-882)Caa>Taa	p.Q294*		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	294					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGCCCTGTTGGAAGGCATCA	0.463000													28	88					0	0	0.001512	0	0
GPR149	344758	broad.mit.edu	37	3	154056017	154056017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:154056017C>T	ENST00000389740.2	-	4	1766	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	556						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGACACAGTCCCCTGGAATGC	0.448000													34	61					0	0	0.002836	0	0
ST18	9705	broad.mit.edu	37	8	53044647	53044647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:53044647C>T	ENST00000276480.7	-	22	3220	c.2537G>A	c.(2536-2538)aGa>aAa	p.R846K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	846						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCCTTCTGTCTCTTGGCAGC	0.522000													13	51					0	0	0.001368	0	0
ITPR1	3708	broad.mit.edu	37	3	4725191	4725191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:4725191C>T	ENST00000302640.8	+	26	3588	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1071W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1080W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1086W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1086W|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1095W	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1095					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCTCCTCTTCCGGCACTTCAG	0.592000													23	12					0	0	0.002780	0	0
HECTD4	283450	broad.mit.edu	37	12	112673402	112673402	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:112673402G>A	ENST00000550722.1	-	36	5588	c.5193C>T	c.(5191-5193)gtC>gtT	p.V1731V	HECTD4_ENST00000430131.2_Silent_p.V1455V|HECTD4_ENST00000377560.5_Silent_p.V1705V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTAAGGAGGGGACAGAGTAGC	0.567000													15	23					0	0	0.003163	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	C	T	rs148365070	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:147120535C>T	ENST00000383075.3	-	2	562	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	ZIC4_ENST00000473123.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.R67Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.R55Q|ZIC4_ENST00000491672.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.R17Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000													23	70					0	0	0.005443	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713797	19713797	+	Silent	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:19713797G>A	ENST00000397821.3	-	5	743	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SH3KBP1_ENST00000379698.4_Silent_p.F114F|SH3KBP1_ENST00000379697.3_Silent_p.F151F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	151	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCTCCTTGATGAAGTTGGAAG	0.498000													26	14					0	0	0.004656	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981885	61981885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:61981885G>A	ENST00000370263.4	-	5	1099	c.878C>T	c.(877-879)aCc>aTc	p.T293I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	293					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GATGATCTCGGTGATGAGCAG	0.582000													17	26					0	0	0.004007	0	0
OR5K4	403278	broad.mit.edu	37	3	98073321	98073321	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:98073321C>T	ENST00000354924.2	+	1	624	c.624C>T	c.(622-624)atC>atT	p.I208I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAATTCAAATCTTTACCATTG	0.343000													15	16					0	0	0.004007	0	0
DDX60	55601	broad.mit.edu	37	4	169206650	169206650	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:169206650C>T	ENST00000393743.3	-	11	1631		c.e11-1			NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTGGAGCTGTCTGTAAACAAA	0.294000													9	11					0	0	0.004482	0	0
AGRN	375790	broad.mit.edu	37	1	980598	980598	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:980598A>G	ENST00000379370.2	+	13	2362	c.2312A>G	c.(2311-2313)tAc>tGc	p.Y771C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	771					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGACGCCCTACGGCTGCTGC	0.687000													5	11					0	0	0.000602	0	0
C12orf50	160419	broad.mit.edu	37	12	88390262	88390262	+	Missense_Mutation	SNP	C	C	T	rs146964348	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:88390262C>T	ENST00000298699.2	-	6	550	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	C12orf50_ENST00000550553.1_Missense_Mutation_p.E124K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	124										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGTAGTATTCCCCTAATCAA	0.313000													16	19					0	0	0.004007	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224101	50224101	+	Silent	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:50224101C>T	ENST00000002829.3	+	18	2353	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	SEMA3F_ENST00000413852.1_Silent_p.F524F|SEMA3F_ENST00000434342.1_Silent_p.F592F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	623	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGCAGCCTTCCTTGAGTGCC	0.627000													5	17					0	0	0.000602	0	0
MYH15	22989	broad.mit.edu	37	3	108224661	108224661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:108224661C>T	ENST00000273353.3	-	3	220	c.164G>A	c.(163-165)tGg>tAg	p.W55*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	55	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATCAGGAATCCAGCATTTCTT	0.363000													22	46					0	0	0.003954	0	0
FAM117B	150864	broad.mit.edu	37	2	203620370	203620370	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:203620370delT	ENST00000303116.6	+	5	1080	c.338delT	c.(337-339)atfs	p.I113fs	FAM117B_ENST00000392238.2_Frame_Shift_Del_p.I357fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	357										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GAAATAATAATTAAAGAGACT	0.368													76	156	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													6	4	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													3	3	---	---	---	---					
PBX3	5090	broad.mit.edu	37	9	128692021	128692022	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:128692021_128692022delAT	ENST00000373487.4	+	4	684_685	c.604_605delAT	c.(604-606)gfs	p.M202fs	PBX3_ENST00000447726.2_Frame_Shift_Del_p.M127fs|PBX3_ENST00000373489.5_Frame_Shift_Del_p.M202fs|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Frame_Shift_Del_p.M21fs|PBX3_ENST00000342287.5_Frame_Shift_Del_p.M202fs			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	202					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATTGAAAGAATGGTGGGCATC	0.396													28	40	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													4	8	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104031013	104031013	+	Splice_Site	DEL	C	C	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:104031013delC	ENST00000388887.2	+	7	912	c.709_splice	c.e7+1	p.D236_splice		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	236	EGF-like 3.				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						AATACTGCGACCGTGAGTAGA	0.388													16	34	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43817125	43817130	+	In_Frame_Del	DEL	TCCCTC	TCCCTC	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43817125_43817130delTCCCTC	ENST00000382031.1	+	5	4199_4204	c.4168_4173delTCCCTC	c.(4168-4173)del	p.SL1390del	MAP1A_ENST00000399453.1_In_Frame_Del_p.SL1152del|MAP1A_ENST00000300231.5_In_Frame_Del_p.SL1152del			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1152						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGATGCAGAATCCCTCTCTGTCCTCA	0.553													11	36	---	---	---	---					
CDYL2	124359	broad.mit.edu	37	16	80638416	80638416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:80638416delG	ENST00000299564.8	-	7	1545	c.1390delC	c.(1390-1392)ggfs	p.R464fs	CDYL2_ENST00000566173.1_Frame_Shift_Del_p.R465fs|CDYL2_ENST00000563890.1_Frame_Shift_Del_p.R465fs|CDYL2_ENST00000562812.1_Frame_Shift_Del_p.R465fs	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	464						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAAGCTCCGCACGAGGCAT	0.547													58	84	---	---	---	---					
ZNF714	148206	broad.mit.edu	37	19	21300286	21300286	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:21300286delT	ENST00000596143.1	+	5	1141	c.816delT	c.(814-816)acfs	p.T273fs	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CAGCCCTTACTACACATAAGT	0.348													2	4	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35555605	35555612	+	Frame_Shift_Del	DEL	GAGCAAGT	GAGCAAGT	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:35555605_35555612delGAGCAAGT	ENST00000262878.4	-	6	868_875	c.669_676delACTTGCTC	c.(667-678)ccgcfs	p.PLAR223fs	SAMHD1_ENST00000373694.5_Frame_Shift_Del_p.PLAR8fs	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	223	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ACCTCCGGGCGAGCAAGTGGAATAAATC	0.351													7	64	---	---	---	---					
