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
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:42224866C>T	ENST00000221992.6	+	8	1910	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	CEACAM5_ENST00000398599.4_Missense_Mutation_p.S598F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S599F|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547000													46	55					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242155653	242155653	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:242155653G>A	ENST00000274979.8	+	19	2237	c.2134_splice	c.e19+1	p.V712_splice	ANO7_ENST00000402430.3_Splice_Site_p.V711_splice	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	712						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGAAATGGGTAGGAGCCC	0.637000													7	9					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36869266	36869266	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:36869266C>T	ENST00000378137.5	+	9	971	c.880C>T	c.(880-882)Cca>Tca	p.P294S	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	623					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTGCTGTCTGCCAGATACTCC	0.602000			T	MLL	AL								28	28					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904013	70904013	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:70904013C>T	ENST00000264436.3	-	13	1952	c.1508G>A	c.(1507-1509)cGa>cAa	p.R503Q	ADD2_ENST00000355733.3_Missense_Mutation_p.R503Q|ADD2_ENST00000413157.2_Missense_Mutation_p.R503Q|ADD2_ENST00000430656.1_Missense_Mutation_p.R519Q|ADD2_ENST00000407644.2_Missense_Mutation_p.R503Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	503					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						GTTTTGTTCTCGAATCTGTGT	0.592000													17	30					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21327630	21327630	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:21327630G>A	ENST00000335375.5	+	3	247	c.140G>A	c.(139-141)aGg>aAg	p.R47K	AIFM3_ENST00000405089.1_Silent_p.K28K|AIFM3_ENST00000399163.2_Silent_p.K22K|AIFM3_ENST00000440238.2_Silent_p.K22K|AIFM3_ENST00000399167.2_Silent_p.K22K|AIFM3_ENST00000333607.6_Silent_p.K22K					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)			TGCCTGAGAAGGAGCGAGGCA	0.672000													5	10					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51130860	51130860	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:51130860C>T	ENST00000301180.5	+	35	4177	c.4143C>T	c.(4141-4143)acC>acT	p.T1381T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1381						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATCCTGAGACCAAAGGGCCGG	0.373000													23	43					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19377336	19377336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:19377336G>A	ENST00000389363.4	-	9	959	c.887C>T	c.(886-888)cCa>cTa	p.P296L	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	296						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCCCAGTCTGGAAGCCAGGA	0.582000													25	46					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74963125	74963125	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:74963125C>T	ENST00000299727.3	+	1	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	207					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTTCGTCTTCGGCTACCTGC	0.692000													48	61					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289561	7289561	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7289561C>T	ENST00000537408.1	+	6	1639	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	CLSTN3_ENST00000266546.6_Silent_p.P355P			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	355					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCAGGTGCCCCTGGGTGGCC	0.622000													37	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685178	100685178	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100685178C>T	ENST00000306151.4	+	3	10545	c.10481C>T	c.(10480-10482)cCa>cTa	p.P3494L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3494	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTCTTCTCCAACCAATTCA	0.493000													215	250					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15113850	15113850	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:15113850C>T	ENST00000378217.3	+	8	975	c.788C>T	c.(787-789)tCt>tTt	p.S263F	OLAH_ENST00000485251.1_Intron|OLAH_ENST00000378228.3_Missense_Mutation_p.S210F	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	210					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TTTGTTGGATCTGAAGACATA	0.308000													33	32					0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18105252	18105252	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:18105252T>G	ENST00000524803.1	-	10	1118	c.1069A>C	c.(1069-1071)Att>Ctt	p.I357L	SAAL1_ENST00000529318.1_Missense_Mutation_p.I359L|SAAL1_ENST00000300013.4_Missense_Mutation_p.I356L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	357					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						AAGACCCGAATGAGGCTGTCA	0.368000													29	1					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519023	53519023	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:53519023C>T	ENST00000370905.3	-	2	1188	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	KLHL31_ENST00000407079.1_Missense_Mutation_p.E350K	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCTGGCATTTCCGTAAGCTTG	0.473000													22	30					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140071	54140071	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54140071C>T	ENST00000376650.1	+	3	456	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TCCTGTACCCCAACCTCAAGG	0.517000													32	44					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	40					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885772	39885772	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:39885772G>A	ENST00000260356.5	+	19	3335	c.3170G>A	c.(3169-3171)gGa>gAa	p.G1057E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1057	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGGGCTCAGGGATACTCGGGC	0.572000													62	13					0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18105253	18105253	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:18105253G>A	ENST00000524803.1	-	10	1117	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	SAAL1_ENST00000529318.1_Silent_p.L358L|SAAL1_ENST00000300013.4_Silent_p.L355L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	356					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						AGACCCGAATGAGGCTGTCAA	0.373000													28	1					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027438	37027438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:37027438C>T	ENST00000358047.3	+	1	1007	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	319								p.R319C(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCATCTCCGCCCAGAGCC	0.607000													39	1					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167721306	167721306	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:167721306T>G	ENST00000230256.3	+	7	1191	c.1016T>G	c.(1015-1017)cTg>cGg	p.L339R	UNC93A_ENST00000366829.2_Missense_Mutation_p.L297R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	339						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCCCTACTGCTGTGGAGACCT	0.617000													33	44					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388009	104388009	+	Missense_Mutation	SNP	G	G	A	rs147175675	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:104388009G>A	ENST00000330295.5	+	2	336	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	CTHRC1_ENST00000520337.1_Missense_Mutation_p.R51Q|CTHRC1_ENST00000415886.2_Missense_Mutation_p.R65Q	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	65	Collagen-like.					collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GTGCCTGGTCGAGACGGGAGC	0.498000													27	44					0	0	1	0	0
CCDC172	374355	broad.mit.edu	37	10	118137945	118137945	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:118137945G>A	ENST00000333254.3	+	8	915	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_198515.2	NP_940917.1			coiled-coil domain containing 172									p.E222K(1)									ACTTAAAAAAGAATTAGAACT	0.279000													11	17					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9757672	9757672	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:9757672C>T	ENST00000383832.3	+	14	1027	c.837C>T	c.(835-837)tcC>tcT	p.S279S	CPNE9_ENST00000383831.3_Silent_p.S279S	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	279										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CGCTGCTCTCCTTCTCTGTGG	0.532000											OREG0015381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495906	179495906	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179495906C>T	ENST00000589042.1	-	237	44093	c.43869G>A	c.(43867-43869)aaG>aaA	p.K14623K	TTN_ENST00000460472.2_Silent_p.K5558K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.K12982K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K5683K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.K12055K|TTN_ENST00000342175.6_Silent_p.K5750K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12982	Ig-like 96.						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)			GCTTTATTTCCTTCCCATCCT	0.373000													11	18					0	0	1	0	0
NUTM2D	728130	broad.mit.edu	37	10	89127098	89127098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:89127098C>T	ENST00000412718.1	+	7	2189	c.1643C>T	c.(1642-1644)cCt>cTt	p.P548L						NUT family member 2D																		TAGGGAGCCCCTTCAGATGCT	0.632000													9	12					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73321085	73321085	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:73321085G>C	ENST00000390667.5	+	10	1415	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	BORA_ENST00000377815.3_Missense_Mutation_p.E370Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	440					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										TGATCCTATAGAGATAGCAGA	0.408000													18	37					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290244	57290244	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:57290244C>T	ENST00000356091.6	+	12	1722	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	NPEPL1_ENST00000525967.1_Silent_p.F450F|NPEPL1_ENST00000525817.1_Silent_p.F430F|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	478					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCACAGGCTTCGGTGTGGCCC	0.672000													10	8					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995902	140995902	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:140995902C>T	ENST00000285879.4	+	4	2998	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	904							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)					AGCCCTTGTTCACTTATACAC	0.478000										HNSCC(15;0.026)			61	6					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947814	165947814	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:165947814G>A	ENST00000360093.3	-	28	5340	c.4849C>T	c.(4849-4851)Cct>Tct	p.P1617S	SCN3A_ENST00000540861.1_Missense_Mutation_p.P100S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1568S|SCN3A_ENST00000283254.7_Missense_Mutation_p.P1617S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1617						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AACAAGGTAGGGGACACAAAA	0.433000													28	37					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982328	118982328	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:118982328C>T	ENST00000328252.3	+	5	2400	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	677					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						CTGTTGCCCTCGCCCCCCAAG	0.577000													125	8					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645290	38645290	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38645290G>A	ENST00000413689.1	-	12	1996	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	SCN5A_ENST00000449557.2_Silent_p.V601V|SCN5A_ENST00000443581.1_Silent_p.V601V|SCN5A_ENST00000450102.2_Silent_p.V601V|SCN5A_ENST00000425664.1_Silent_p.V601V|SCN5A_ENST00000414099.2_Silent_p.V601V|SCN5A_ENST00000451551.2_Silent_p.V601V|SCN5A_ENST00000333535.4_Silent_p.V601V|SCN5A_ENST00000455624.2_Silent_p.V601V|SCN5A_ENST00000423572.2_Silent_p.V601V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	601					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCAGTAATGAGACCACCCCAT	0.662000													39	48					0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66221809	66221809	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:66221809G>A	ENST00000541363.1	+	2	513	c.140G>A	c.(139-141)aGa>aAa	p.R47K	HMGA2_ENST00000403681.2_Missense_Mutation_p.R47K|HMGA2_ENST00000393577.3_Missense_Mutation_p.R47K|HMGA2_ENST00000393578.3_Missense_Mutation_p.R47K|HMGA2_ENST00000536545.1_Missense_Mutation_p.R47K|HMGA2_ENST00000354636.3_Missense_Mutation_p.R47K|HMGA2_ENST00000425208.2_Missense_Mutation_p.R47K			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	47	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		TCTCCTAAGAGACCCAGGGGA	0.448000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								10	24					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185173954	185173954	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:185173954G>A	ENST00000367500.4	+	12	1957	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	SWT1_ENST00000367501.3_Missense_Mutation_p.E598K	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	598										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTCAATATTAGAAACAGAAAT	0.323000													13	26					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52851021	52851021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:52851021C>T	ENST00000266041.4	-	21	2446	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	ITIH4_ENST00000485816.1_Missense_Mutation_p.E789K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E754K|ITIH4_ENST00000346281.5_Missense_Mutation_p.E768K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	784					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGTCACTTCGATCCATGAG	0.582000													35	44					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	121985724	121985724	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:121985724C>T	ENST00000334010.7	-	26	3931	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.M1172I|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.M1131I|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.M1131I|RP5-1101C3.1_ENST00000602199.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1172					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGCCAGATCCATTCCTGGTT	0.323000													37	39					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984958	140984958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:140984958C>T	ENST00000298296.1	+	7	1414	c.1414C>T	c.(1414-1416)Caa>Taa	p.Q472*	MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.Q174*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.Q174*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.Q94*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.Q174*	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	472	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAATATCAAACAAAAGA	0.458000													31	3					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707808	70707808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:70707808C>T	ENST00000226444.3	-	8	901	c.789G>A	c.(787-789)tgG>tgA	p.W263*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	263					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AGTGATTTTTCCAGTCTCCTG	0.313000													13	21					0	0	1	0	0
TRAJ18	28737	broad.mit.edu	37	14	22994651	22994651	+	RNA	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:22994651C>T	ENST00000390519.1	+	0	32																											GGAGGCTATACTTTGGAAGAG	0.488000													19	31					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834088	61834088	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:61834088G>A	ENST00000280772.1	-	37	6742	c.6551C>T	c.(6550-6552)cCc>cTc	p.P2184L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2184					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						TTGGGTCTGGGGAACATCCCC	0.448000													27	48					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730850	92730850	+	Missense_Mutation	SNP	C	C	T	rs115350620	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:92730850C>T	ENST00000379958.2	-	3	4830	c.4561G>A	c.(4561-4563)Gaa>Aaa	p.E1521K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1521						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)			TGGACTTTTTCCTCCTTCCAC	0.363000													26	32					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11407739	11407739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:11407739C>T	ENST00000259089.4	+	6	1032	c.440C>T	c.(439-441)tCc>tTc	p.S147F	BLK_ENST00000529894.1_Missense_Mutation_p.S76F	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	147	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AAGGCCGGCTCCTTTCTTATC	0.562000													17	20					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887040	123887040	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:123887040C>T	ENST00000320891.4	+	1	759	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTTTGTTCCCTGTGTTGTCA	0.537000													34	3					0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90212868	90212868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:90212868G>A	ENST00000300055.5	-	6	799	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	PLIN1_ENST00000430628.2_Missense_Mutation_p.P212S	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	212					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TTGGCCTTGGGAGACTTCTGG	0.622000													14	21					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912770	38912770	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:38912770C>T	ENST00000454404.2	-	2	260	c.47G>A	c.(46-48)gGa>gAa	p.G16E	RASGRP4_ENST00000293062.9_Missense_Mutation_p.G16E|RASGRP4_ENST00000587738.1_Missense_Mutation_p.G16E|RASGRP4_ENST00000587753.1_Missense_Mutation_p.G16E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G16E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.G16E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.G16E	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	16					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCTATTTTTCCGGTGCATTC	0.592000													14	15					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958829	51958829	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:51958829C>T	ENST00000321424.3	-	4	960	c.894G>A	c.(892-894)ggG>ggA	p.G298G	SIGLEC8_ENST00000430817.1_Silent_p.G189G|SIGLEC8_ENST00000340550.5_Silent_p.G205G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	298	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGTCAGGCTCCCCCGGGTCC	0.622000													16	14					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74452089	74452089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:74452089C>T	ENST00000339953.5	-	3	445	c.324G>A	c.(322-324)tgG>tgA	p.W108*		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	108	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGCATGTTCCAGCCCACTT	0.662000													14	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050196	9050196	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9050196G>A	ENST00000397910.4	-	5	31638	c.31435C>T	c.(31435-31437)Ctg>Ttg	p.L10479L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10481	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						GTGGTCTTCAGAGCTGTGGTG	0.488000													99	126					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457248	107457248	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:107457248C>T	ENST00000318763.5	+	1	589	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGTCCTGGATCATAGGCTGTC	0.463000													46	5					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806756	74806756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:74806756G>A	ENST00000412021.2	-	9	1337	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	P4HA1_ENST00000373008.2_Missense_Mutation_p.P335L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P335L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P335L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P335L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P335L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	335						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)	AATAATACGAGGCTTGTCCCA	0.393000													33	35					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24981921	24981921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:24981921G>A	ENST00000318753.8	-	4	904	c.881C>T	c.(880-882)cCt>cTt	p.P294L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	294																	GGTGGAGGCAGGGGTGGTGGC	0.701000													12	13					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432305	20432305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:20432305C>T	ENST00000377252.3	+	5	1464	c.623C>T	c.(622-624)cCc>cTc	p.P208L	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.P159L	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	208						integral to membrane		p.P208L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AATTTCGATCCCAGTGTATCC	0.358000													22	40					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55253054	55253054	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:55253054C>T	ENST00000381298.2	-	9	1351	c.1039G>A	c.(1039-1041)Gta>Ata	p.V347I	IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.V347I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.V347I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V347I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	347	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACGAGTTGTACAGTTCTGTAG	0.338000			O		hepatocellular ca								29	44					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70964852	70964852	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:70964852C>T	ENST00000334414.6	-	13	3368	c.3324G>A	c.(3322-3324)acG>acA	p.T1108T	PTPRB_ENST00000551525.1_Silent_p.T1107T|PTPRB_ENST00000261266.5_Silent_p.T890T|PTPRB_ENST00000538708.1_Silent_p.T890T|PTPRB_ENST00000550857.1_Silent_p.T800T|PTPRB_ENST00000451516.2_Silent_p.T800T|PTPRB_ENST00000550358.1_Silent_p.T1020T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	890	Fibronectin type-III 13.				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)			CCCCGCTAATCGTCAAGACAA	0.423000													9	17					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080427	54080427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54080427C>T	ENST00000253144.9	+	7	1946	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	ZNF331_ENST00000411977.2_Missense_Mutation_p.H205Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.H205Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.H205Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.H205Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H205Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.H205Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	205					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)		CCTCGTTATTCATAAGAGGAT	0.453000			T	?	follicular thyroid adenoma								22	37					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191897741	191897741	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:191897741G>A	ENST00000392320.2	-	21	2301	c.1987C>T	c.(1987-1989)Cct>Tct	p.P663S	STAT4_ENST00000358470.4_Missense_Mutation_p.P663S	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	663	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGAATGTCAGGATATAGGTAC	0.413000													24	34					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	11999180	11999180	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:11999180C>T	ENST00000269159.3	+	2	466	c.224C>T	c.(223-225)tCa>tTa	p.S75L	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	75					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	AGGTTTCCTTCACACAGGTAG	0.488000													15	28					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370876	126370876	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:126370876G>A	ENST00000394329.3	+	9	8718	c.8705G>A	c.(8704-8706)gGa>gAa	p.G2902E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1200E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2902	Cadherin 28.				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						CCTGATGAGGGATCAAATGGA	0.358000													25	43					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249287	71249287	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:71249287C>T	ENST00000398534.3	+	1	217	c.186C>T	c.(184-186)tcC>tcT	p.S62S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	62	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCCGTGGCTCCTGTGGGGGCT	0.657000													233	13					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734212	92734212	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:92734212C>T	ENST00000379958.2	-	3	1468	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	400						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)			ATCTTGATTTCCTGTCAATAA	0.328000													19	21					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349307	90349307	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:90349307G>A	ENST00000300060.6	-	2	821	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	170	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCTTCACCAGGGAGCCCTTG	0.622000													27	39					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774273	14774273	+	Missense_Mutation	SNP	C	C	T	rs78327295		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:14774273C>T	ENST00000295092.2	+	2	458	c.170C>T	c.(169-171)gCc>gTc	p.A57V	FAM84A_ENST00000331243.4_Missense_Mutation_p.A57V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	57										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGTGAAGGCCCCCCCGGGT	0.632000													11	12					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898247	6898247	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:6898247C>T	ENST00000379829.2	+	1	392	c.369C>T	c.(367-369)cgC>cgT	p.R123R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATATGACCGCTACGTGGCCA	0.542000													31	7					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52782019	52782019	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:52782019G>A	ENST00000245457.5	+	1	907	c.753G>A	c.(751-753)ggG>ggA	p.G251G	PTGER2_ENST00000557436.1_5'UTR	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	251						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	gcAGGAGAGGGGAAAGGGTGT	0.642000													10	22					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123261	47123261	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:47123261A>G	ENST00000290341.3	+	13	1739	c.1405A>G	c.(1405-1407)Aga>Gga	p.R469G	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R330G	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	469	KH 3.|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						GGCTCAGGGAAGAATCTATGG	0.473000													16	14					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718663	42718663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:42718663G>A	ENST00000230882.4	+	10	1244	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	GHR_ENST00000537449.1_Missense_Mutation_p.E165K|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E330K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	352					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGATATTGATGAGCCAGATGA	0.423000													44	52					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72725603	72725603	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:72725603C>A	ENST00000272427.6	-	13	1447	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.K439N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	439					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTGCCCACTTCTTTAGCAGAG	0.353000													10	3					5.50884e-06	5.55832e-06	1	1	0
SPATA8	145946	broad.mit.edu	37	15	97328251	97328251	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:97328251C>T	ENST00000558553.1	+	3	249	c.100C>T	c.(100-102)Cca>Tca	p.P34S	SPATA8_ENST00000328504.3_Silent_p.I74I			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ACGGAAGGATCCAAAGGGTTC	0.453000													24	41					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:49974850G>A	ENST00000555099.1	+	1	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCTCAAATGAAAAATGCCA	0.383000													27	1					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620152	10620152	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:10620152G>A	ENST00000254958.5	-	26	4166	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I	JAG1_ENST00000423891.2_Silent_p.I1058I	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1217					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGCTATACGATGTACTCCA	0.532000									Alagille Syndrome				76	143					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004791	102004791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:102004791C>T	ENST00000372735.1	+	4	1453	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	BHLHB9_ENST00000448867.1_Nonsense_Mutation_p.Q290*|BHLHB9_ENST00000361229.4_Nonsense_Mutation_p.Q290*|BHLHB9_ENST00000457056.1_Nonsense_Mutation_p.Q290*|BHLHB9_ENST00000447531.1_Nonsense_Mutation_p.Q290*			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	290						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCTGCATCCAGACCATAGA	0.473000													27	3					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435592	104435592	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:104435592G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GCCCAAGCCTGGTGCAGGGAC	0.443000													11	14					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217148305	217148305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:217148305G>A	ENST00000273067.4	-	2	2430	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	222						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCTGCAGAGGATTTTTTGTG	0.572000													23	38					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855779	79855779	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79855779C>T	ENST00000338682.3	-	5	732	c.60G>A	c.(58-60)caG>caA	p.Q20Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	20						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GAAGCCGGCTCTGATGGACTG	0.458000													16	25					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24268220	24268220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:24268220G>A	ENST00000005284.3	+	1	1347	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	49					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E49K(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AAGTGATAATGAAACCAGCAG	0.443000													21	21					0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79914551	79914551	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:79914551G>A	ENST00000409678.3	-	8	1346	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	321						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGACCTTGTAGCCAAAGAAGC	0.637000													7	11					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633803	7633803	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7633803C>T	ENST00000359156.4	-	15	3499	c.3297G>A	c.(3295-3297)atG>atA	p.M1099I	CD163_ENST00000541972.1_Missense_Mutation_p.M1087I|CD163_ENST00000396620.3_Missense_Mutation_p.M1132I|CD163_ENST00000432237.2_Missense_Mutation_p.M1099I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1099					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCAAGAATTCATCTCCCGGT	0.453000													17	22					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52544958	52544958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:52544958G>A	ENST00000262094.5	+	2	663	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	48					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AGACTTTCGGGAAAAACGTGT	0.378000													20	45					0	0	1	0	0
RPL13	6137	broad.mit.edu	37	16	89628065	89628065	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:89628065C>T	ENST00000393099.3	+	3	575	c.326C>T	c.(325-327)tCc>tTc	p.S109F	RPL13_ENST00000452368.3_Intron|RPL13_ENST00000311528.5_Missense_Mutation_p.S109F|RPL13_ENST00000567815.1_Missense_Mutation_p.S109F	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	109					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		TCCACGGAGTCCCTGCAGGCC	0.612000													17	22					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79189748	79189748	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:79189748G>A	ENST00000282003.6	-	6	2206	c.2148C>T	c.(2146-2148)tcC>tcT	p.S716S	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	716	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGCTGGCACTGGAAAGGCTGC	0.373000													23	37					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292034	163292034	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:163292034C>T	ENST00000332142.5	-	8	1727	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R536Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	543					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCTGAATATCGATCCAGTTT	0.453000													15	23					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854241	12854241	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:12854241C>T	ENST00000332296.7	+	3	568	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	155										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		ACATCTGCCTCAAGGAAATAC	0.498000													19	151					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180420075	180420075	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:180420075C>T	ENST00000342868.6	+	2	496	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	104					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TAAAAAACATCACTCCCTCGG	0.522000													4	5					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080218	23080218	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:23080218G>A	ENST00000219689.7	-	16	3207	c.3208C>T	c.(3208-3210)Ccc>Tcc	p.P1070S	USP31_ENST00000567975.1_Missense_Mutation_p.P363S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1070	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGCGGGAGGGCTTTAGAGAG	0.552000													18	27					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760883	186760883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186760883C>T	ENST00000169298.3	+	4	1066	c.392C>T	c.(391-393)cCa>cTa	p.P131L	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P131L|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	131					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCCAGGACCAGGCATCAAG	0.488000													12	15					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165439	139165439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139165439G>A	ENST00000395297.1	-	13	1449	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	427										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)			TCAAAATTAGGATAAACACTC	0.294000										HNSCC(54;0.14)			6	16					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			146	58					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898705	36898705	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:36898705G>A	ENST00000301807.6	-	12	2623	c.726C>T	c.(724-726)atC>atT	p.I242I	TRANK1_ENST00000428977.2_Silent_p.I242I|TRANK1_ENST00000429976.2_Silent_p.I792I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	792					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTGCACTCGATCTCCCAGG	0.493000													84	107					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507955	144507955	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:144507955G>A	ENST00000367568.4	+	2	374	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	64					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GACGTGAAGCGGCTGGGAAAG	0.622000									Familial Hemophagocytic Lymphohistiocytosis				9	10					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173971	49173971	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:49173971G>A	ENST00000270235.4	-	2	368	c.273C>T	c.(271-273)atC>atT	p.I91I	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	91						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGCAGACAGGATGAGGGCTG	0.662000													9	13					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816259	156816259	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:156816259C>T	ENST00000347377.6	+	29	3701	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000435847.2_Silent_p.S789S|CYFIP2_ENST00000522463.1_Silent_p.S894S|CYFIP2_ENST00000541131.1_Silent_p.S1015S|CYFIP2_ENST00000521420.1_Silent_p.S1064S|CYFIP2_ENST00000377576.3_Silent_p.S1090S|CYFIP2_ENST00000318218.6_Silent_p.S1115S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1115					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGCCTGTCCATGTTCGAGG	0.602000													23	29					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864593	13864593	+	Silent	SNP	G	G	A	rs138157585	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13864593G>A	ENST00000265104.4	-	28	4613	c.4509C>T	c.(4507-4509)acC>acT	p.T1503T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1503	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGTGCCCGGTGAGGGTGG	0.458000									Kartagener syndrome				13	18					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170014006	170014006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:170014006C>T	ENST00000263816.3	-	64	12179	c.11894G>A	c.(11893-11895)gGa>gAa	p.G3965E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3965					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)	TCTTTCTTTTCCTTTATCTGA	0.373000													9	11					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31018774	31018774	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:31018774C>T	ENST00000409904.3	+	10	1253	c.995C>T	c.(994-996)cCt>cTt	p.P332L	GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.P396L			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	396					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGCCATGACCCTGAGCTTCTG	0.602000													25	45					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070851	70070851	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:70070851G>A	ENST00000370598.1	+	29	4507	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	BAI3_ENST00000238918.8_Missense_Mutation_p.G435E|BAI3_ENST00000546190.1_Missense_Mutation_p.G193E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1229					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)				GAAGAAAAGGGAACAAACCCT	0.428000													21	29					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449607	155449607	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155449607G>A	ENST00000368346.3	-	3	3693	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	ASH1L_ENST00000392403.3_Silent_p.L1018L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1018					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCGTATTATGGAGTTTGGATT	0.338000													17	53					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176267	112176267	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:112176267A>T	ENST00000457016.1	+	16	5356	c.4976A>T	c.(4975-4977)gAt>gTt	p.D1659V	APC_ENST00000257430.4_Missense_Mutation_p.D1659V|APC_ENST00000508376.2_Missense_Mutation_p.D1659V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1659	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTCTAAGTGATCTAACAATC	0.448000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			20	22					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117027875	117027875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:117027875G>A	ENST00000355044.3	+	13	2180	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	685	PSI 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGGTGCCAATGGTGTGATGAC	0.403000													15	28					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987893	61987893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:61987893C>T	ENST00000309894.5	-	3	192	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_Silent_p.K134K|CSHL1_ENST00000558099.1_5'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	65						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GTGATATAGGCTTCTTCCTAG	0.507000													36	60					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71853498	71853498	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:71853498C>T	ENST00000373255.4	+	5	749	c.485C>T	c.(484-486)cCa>cTa	p.P162L		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	162					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAGTCCAAACCAAAGGACAGC	0.463000													13	10					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40717077	40717077	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:40717077C>T	ENST00000372766.3	+	2	453	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	120						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATAATCTTTTCCTGTCCTTGG	0.388000													12	29					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36644056	36644056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:36644056C>T	ENST00000316156.4	+	9	2087	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	MAP7D1_ENST00000373148.4_Missense_Mutation_p.P119L|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P582L|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P550L			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	582	Pro-rich.					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)				GCCCCTGCTCCCCCGGTGACC	0.682000													16	8					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034605	128034605	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:128034605C>T	ENST00000338791.6	-	15	1949	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000480861.1_Silent_p.Q443Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000348127.6_Silent_p.Q497Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	448					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTTGTCCTGGATGGAGC	0.602000													45	75					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161771200	161771200	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:161771200G>A	ENST00000366898.1	-	12	1431	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	PARK2_ENST00000338468.3_Silent_p.L252L|PARK2_ENST00000366896.1_Silent_p.L294L|PARK2_ENST00000366897.1_Silent_p.L415L|PARK2_ENST00000366894.1_Silent_p.L252L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	443					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AGCACCACTCGAGCCTGCACT	0.627000													6	14					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764939	184764939	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:184764939C>T	ENST00000367511.3	-	14	2152	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	653					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TAATCACCTGCTCAGTCCCAT	0.567000													18	49					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577572	162577572	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:162577572G>A	ENST00000306100.5	-	7	1238	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	FSTL5_ENST00000379164.4_Silent_p.L267L|FSTL5_ENST00000536695.1_Silent_p.L267L|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Silent_p.L267L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	268	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACAGCTCAGAACAGCACTT	0.403000													15	25					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394581	164394581	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:164394581C>T	ENST00000280605.3	-	1	466	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	102						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)				TGTGAAGTTTCCTCAGGTTCA	0.547000													15	15					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55783668	55783668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:55783668C>T	ENST00000374941.4	+	9	1436	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	RRAGB_ENST00000262850.7_Nonsense_Mutation_p.Q311*	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	311					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TGCCTCTTTCCAGAGTATGGA	0.373000													15	2					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391098	31391098	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:31391098G>A	ENST00000268296.4	+	25	3010	c.2889G>A	c.(2887-2889)agG>agA	p.R963R	ITGAX_ENST00000562522.1_Silent_p.R963R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	963					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGGACAGAGGGACCTGCCTG	0.627000													6	14					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578642	58578642	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:58578642C>T	ENST00000506786.1	+	5	1218	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	ZNF135_ENST00000359978.6_Missense_Mutation_p.H276Y|ZNF135_ENST00000511556.1_Missense_Mutation_p.H276Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H288Y|ZNF135_ENST00000439855.2_Missense_Mutation_p.H264Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H264Y			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	276					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGAGAATCCATACTGGGGA	0.517000													35	49					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14758153	14758153	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:14758153G>A	ENST00000253673.5	-	8	822	c.722C>T	c.(721-723)tCa>tTa	p.S241L	EMR3_ENST00000443157.2_Missense_Mutation_p.S115L|EMR3_ENST00000344373.4_Missense_Mutation_p.S189L|EMR3_ENST00000599900.1_Missense_Mutation_p.S26L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	241					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGAAGAATATGAGATAAAGGC	0.338000													9	24					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111729274	111729274	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:111729274C>T	ENST00000261726.6	+	5	508	c.354C>T	c.(352-354)ccC>ccT	p.P118P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACTGCAGCCCCCCAGCTTTG	0.617000													25	40					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150905163	150905163	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150905163C>T	ENST00000222388.2	-	16	1944	c.1899G>A	c.(1897-1899)agG>agA	p.R633R		NM_005692.3	NP_005683.2	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	0						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCTCATGGCCTTGGCAGAG	0.612000													24	28					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98249158	98249158	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:98249158C>T	ENST00000265634.3	+	2	795	c.630C>T	c.(628-630)acC>acT	p.T210T		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	210					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGGTCACCGAGCTGGAGC	0.592000													22	24					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961252	30961252	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:30961252G>A	ENST00000399914.1	-	10	1952	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	GRIK1_ENST00000309434.7_Silent_p.F494F|GRIK1_ENST00000327783.4_Silent_p.F492F|GRIK1_ENST00000399909.1_Silent_p.F477F|GRIK1_ENST00000389124.2_Silent_p.F492F|GRIK1_ENST00000399907.1_Silent_p.F492F|GRIK1_ENST00000535441.1_Silent_p.F494F|GRIK1_ENST00000389125.3_Silent_p.F477F|GRIK1_ENST00000399913.1_Silent_p.F492F			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	492					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCATAAATGAAACCCAGGA	0.393000													22	43					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149919801	149919801	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:149919801C>T	ENST00000261797.6	+	8	2226	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	NDST1_ENST00000523767.1_Missense_Mutation_p.S575F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	575	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATCTTCTCCGAGGAGAAG	0.617000													10	17					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17517118	17517118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:17517118G>A	ENST00000511148.2	+	1	331	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	77						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GTGTGGGCTTGGGGGCCGCCA	0.488000													9	9					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	G	A	rs144536521		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:141673385G>A	ENST00000547270.1	-	1	188	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000													34	31					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952793	119952793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:119952793G>A	ENST00000307142.4	+	4	3059	c.2863G>A	c.(2863-2865)Gga>Aga	p.G955R	SYNPO2_ENST00000434046.2_Missense_Mutation_p.G955R|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G955R|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	955						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						CAAGAAAAAGGGAAAGAAACC	0.493000													15	29					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831723	32831723	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:32831723C>T	ENST00000397452.1	-	9	1002	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	BPIFC_ENST00000534972.1_Missense_Mutation_p.G22R|BPIFC_ENST00000432451.2_Missense_Mutation_p.G112R|BPIFC_ENST00000300399.3_Missense_Mutation_p.G298R			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	298						extracellular region	lipopolysaccharide binding|phospholipid binding										TTGAAAACCCCAGCTGTGAAA	0.443000													18	15					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431486	31431486	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:31431486G>A	ENST00000414046.2	+	0	558					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						gaggccttgggaaattacctg	0.552000													37	44					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174220	150174220	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150174220G>A	ENST00000307271.3	+	5	1924	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	450						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCGGGACTGGGAAGAGTGCGA	0.547000													42	60					0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476136	228476136	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:228476136G>A	ENST00000264387.4	-	3	513	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	143						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATCTAGAATGGCTCCAGAGC	0.478000													31	31					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40657610	40657610	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:40657610G>A	ENST00000298910.7	+	14	1621	c.1563G>A	c.(1561-1563)agG>agA	p.R521R	LRRK2_ENST00000343742.2_Silent_p.R521R	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	521					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGAATCCAGGGAGGATACAG	0.323000													13	16					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510906	104510906	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:104510906G>A	ENST00000304883.2	-	5	1471	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	444						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGATTTGGAATTCCTGCG	0.468000													46	46					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57185697	57185697	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:57185697G>A	ENST00000343433.6	-	19	2243	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	721										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAGCTTACTTGAAATCTAGAT	0.274000													4	20					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013316	99013316	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:99013316G>A	ENST00000393504.1	+	8	2100	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G	CNGA3_ENST00000272602.2_Silent_p.G561G|CNGA3_ENST00000409937.1_Silent_p.G565G|CNGA3_ENST00000436404.2_Silent_p.G543G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	561					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAAGTCGGGGAACCGCAGGA	0.592000													42	75					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7441863	7441863	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:7441863G>A	ENST00000318881.6	+	6	1701	c.1464G>A	c.(1462-1464)gtG>gtA	p.V488V		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	488						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)		ATTCCCTGGTGGAGGTAAGAC	0.488000													29	3					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832719	150832719	+	Missense_Mutation	SNP	G	G	A	rs72349307		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:150832719G>A	ENST00000370357.4	+	11	1215	c.970G>A	c.(970-972)Gac>Aac	p.D324N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	324						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGACCAGCAGGACCCAGAGAA	0.617000													29	1					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850360	40850360	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:40850360G>A	ENST00000255224.3	-	4	1592	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	SYT4_ENST00000590752.1_Silent_p.I390I|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	408						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAGTCACAGATCTCTTTCC	0.498000													68	98					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042618	73042618	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:73042618G>A	ENST00000604411.1	+	0	30579				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCGTATGAACGAAAAAATAAA	0.343000													12	0					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15469323	15469323	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:15469323C>T	ENST00000380733.4	-	12	1388	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	PSIP1_ENST00000380738.4_Missense_Mutation_p.D349N			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	349					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGTCGAGAATCCATTGATGTT	0.284000													23	2					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843230	227843230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:227843230C>T	ENST00000343776.4	+	4	1624	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	ZNF678_ENST00000397097.3_Missense_Mutation_p.H482Y|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	482					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAAGAGAATTCATACTGGAGA	0.368000													12	33					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956418	128956418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:128956418G>A	ENST00000274487.4	+	9	1713	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	523	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R523Q(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCATGGTCTCGATGTAGCAAG	0.388000													58	76					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50056163	50056163	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:50056163C>T	ENST00000281631.5	+	5	470	c.312C>T	c.(310-312)tcC>tcT	p.S104S	PARP8_ENST00000514067.2_Silent_p.S104S|PARP8_ENST00000505554.1_Silent_p.S83S|PARP8_ENST00000503750.2_Silent_p.S104S|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Silent_p.S104S|PARP8_ENST00000511363.2_Intron	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	104						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTTGCTTATCCATAAAATCCA	0.234000													8	16					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518042	84518042	+	RNA	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:84518042C>T	ENST00000331369.5	+	0	236																											GCTGTTTGGGCCAGAATCTGG	0.512000													15	24					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59061522	59061522	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:59061522C>T	ENST00000253024.5	+	16	2491	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	TRIM28_ENST00000341753.6_Silent_p.P652P	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	734	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGGACCAGCCCGGTGGCACCC	0.607000													12	14					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296932	108296932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:108296932C>T	ENST00000520734.1	-	6	868	c.583G>A	c.(583-585)Gga>Aga	p.G195R	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G194R			Q15389	ANGP1_HUMAN	angiopoietin 1	395					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTTTCATTTCCTATGTGGAAT	0.378000													23	27					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239494	155239494	+	Missense_Mutation	SNP	G	G	A	rs146292560	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155239494G>A	ENST00000368361.4	-	3	499	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CLK2_ENST00000536801.1_Missense_Mutation_p.R62C|CLK2_ENST00000355560.4_Missense_Mutation_p.R61C|CLK2_ENST00000361168.5_Missense_Mutation_p.R62C			P49760	CLK2_HUMAN	CDC-like kinase 2	62						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			TCGGACGAACGATCATCATAA	0.498000								Other conserved DNA damage response genes					33	87					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34135216	34135216	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:34135216C>T	ENST00000348547.2	+	5	498	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	ERGIC3_ENST00000357394.4_Missense_Mutation_p.R141C|ERGIC3_ENST00000279052.6_Missense_Mutation_p.R141C|ERGIC3_ENST00000447986.1_Missense_Mutation_p.R141C	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	141					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGACCCTGATCGCTGTGAGAG	0.597000													25	22					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33517323	33517323	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:33517323G>A	ENST00000216951.2	-	12	1280	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	GSS_ENST00000451957.2_Silent_p.S283S|GSS_ENST00000541098.1_Silent_p.S266S	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	394					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TGAGGATGTAGGAGGCCCTCT	0.552000													93	207					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153946425	153946425	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:153946425G>A	ENST00000368607.3	+	10	1338	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E358K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E338K|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E358K|CREB3L4_ENST00000405694.3_Missense_Mutation_p.E211K	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	358					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGACTGAGGGAGCCACCTGG	0.552000													34	25					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711345	20711345	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20711345G>A	ENST00000315409.2	+	1	448	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GCTTATGATCGATACCTGGCC	0.468000													23	18					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633363	70633363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:70633363C>T	ENST00000381269.2	-	2	2530	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.E593K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E593K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E593K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E593K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	593	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TACACAGTTTCATCATTCTTG	0.468000													10	22					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255502	140255502	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140255502G>A	ENST00000398631.2	+	1	445	c.445G>A	c.(445-447)Gac>Aac	p.D149N	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_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)			TGCGCCTCTGGACTCTCATTT	0.458000													32	32					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	G	A	rs141686243		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:66963846G>A	ENST00000276570.5	+	3	351	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000													35	33					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677431	55677431	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:55677431C>T	ENST00000527223.2	-	3	228	c.226_splice	c.e3-1	p.R76_splice	DNAAF3_ENST00000524407.2_Intron|DNAAF3_ENST00000391720.4_Intron|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	28																	CGTAGCATCCCCTATAAAAAA	0.572000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179545869	179545869	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179545869C>T	ENST00000589042.1	-	138	33501	c.33277G>A	c.(33277-33279)Gaa>Aaa	p.E11093K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10776K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9849K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10776	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTATTTTTTCCTCAAAAACT	0.318000													11	10					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724608	45724608	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:45724608C>T	ENST00000297323.7	+	12	2036	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	672					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)	GATTCAGATTCGCACTGTCCT	0.453000													104	117					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40657611	40657611	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:40657611G>A	ENST00000298910.7	+	14	1622	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E522K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	522					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAATCCAGGGAGGATACAGA	0.323000													12	17					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42700097	42700097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:42700097G>A	ENST00000230882.4	+	6	801	c.611G>A	c.(610-612)tGg>tAg	p.W204*	GHR_ENST00000537449.1_Nonsense_Mutation_p.W17*|GHR_ENST00000357703.3_Nonsense_Mutation_p.W182*	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	204	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAAACTAAATGGAAAATGGTA	0.358000													4	6					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661507	90661507	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:90661507G>A	ENST00000257749.4	-	7	1025	c.318C>T	c.(316-318)atC>atT	p.I106I	BACH2_ENST00000537989.1_Silent_p.I106I|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.I106I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	106						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGACCTCGCGGATGTTTTCTC	0.562000													14	11					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365778	67365778	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:67365778C>T	ENST00000382713.5	+	5	738	c.548C>T	c.(547-549)tCa>tTa	p.S183L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	183	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CCTCTCAGCTCACTGAGGAGA	0.463000													18	14					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30610479	30610479	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:30610479C>T	ENST00000300415.8	+	6	963	c.950C>T	c.(949-951)tCc>tTc	p.S317F	CCM2L_ENST00000262659.8_Missense_Mutation_p.S317F					cerebral cavernous malformation 2-like																		GCAGAGGAGTCCTGCGCACTC	0.552000													32	112					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461711	154461711	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:154461711C>T	ENST00000304760.2	-	3	926	c.840G>A	c.(838-840)aaG>aaA	p.K280K		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	280										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGAGGTCCTTGGAACTCC	0.637000													25	60					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129913336	129913336	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:129913336G>A	ENST00000281142.5	-	9	1175	c.672C>T	c.(670-672)ctC>ctT	p.L224L	SCLT1_ENST00000503215.1_Silent_p.L201L|SCLT1_ENST00000434680.1_Silent_p.L224L|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	224						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTTTTTTTCGGAGTTGTTCGA	0.303000													5	10					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629608	118629608	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:118629608G>A	ENST00000336338.5	-	11	1448	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	461						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)		TGGGTGGGACGAGATCTTCTT	0.522000													31	97					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509103	52509103	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:52509103G>A	ENST00000242839.4	-	21	4343	c.4187C>T	c.(4186-4188)aCg>aTg	p.T1396M	ATP7B_ENST00000344297.5_Missense_Mutation_p.T1189M|ATP7B_ENST00000400366.3_Missense_Mutation_p.T1285M|ATP7B_ENST00000400370.3_Missense_Mutation_p.T966M|ATP7B_ENST00000417240.2_Missense_Mutation_p.T607M|ATP7B_ENST00000418097.2_Missense_Mutation_p.T1331M|ATP7B_ENST00000448424.2_Missense_Mutation_p.T1318M	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1396					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGGGATGCCGTCAGGGGCTT	0.587000									Wilson disease				14	35					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59764311	59764311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:59764311C>T	ENST00000361421.1	-	4	685	c.465G>A	c.(463-465)atG>atA	p.M155I		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	155						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCATGGCTGCCATCTGAGGAT	0.428000													29	36					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676975	234676975	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:234676975G>A	ENST00000360418.3	+	4	1194	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	UGT1A10_ENST00000373445.1_Missense_Mutation_p.M395I|UGT1A4_ENST00000373409.3_Missense_Mutation_p.M399I|UGT1A5_ENST00000373414.3_Missense_Mutation_p.M399I|UGT1A1_ENST00000305208.5_Missense_Mutation_p.M398I|UGT1A8_ENST00000373450.4_Missense_Mutation_p.M395I|UGT1A7_ENST00000373426.3_Missense_Mutation_p.M395I|UGT1A9_ENST00000354728.4_Missense_Mutation_p.M395I|UGT1A10_ENST00000344644.5_Missense_Mutation_p.M395I|UGT1A3_ENST00000482026.1_Missense_Mutation_p.M399I|UGT1A6_ENST00000305139.6_Missense_Mutation_p.M397I|UGT1A6_ENST00000406651.1_Missense_Mutation_p.M130I|UGT1A6_ENST00000373424.1_Missense_Mutation_p.M130I			P22309	UD11_HUMAN		398					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTGATCAGATGGACAATGCAA	0.458000													23	31					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830189	61830189	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:61830189T>G	ENST00000280772.1	-	37	10641	c.10450A>C	c.(10450-10452)Agt>Cgt	p.S3484R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3484	Poly-Ser.				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						GATGAAGAACTTTTAGAAGGT	0.473000													26	18					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161496333	161496333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:161496333C>T	ENST00000309758.4	+	1	2298	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	629					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)			CACTCAAGCCCGCCAGGGGGA	0.602000													8	12					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022147	14022147	+	Silent	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:14022147C>A	ENST00000382080.1	-	5	1204	c.489G>T	c.(487-489)gtG>gtT	p.V163V	RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Silent_p.V116V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	150					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGAAAACAGCACCCTGCCAT	0.408000													8	35					0.0381472	0.0382988	1	1	0
MUC17	140453	broad.mit.edu	37	7	100685177	100685177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100685177C>T	ENST00000306151.4	+	3	10544	c.10480C>T	c.(10480-10482)Cca>Tca	p.P3494S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3494	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTTCTCCAACCAATTC	0.493000													221	250					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685931	198685931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:198685931G>A	ENST00000367376.2	+	13	1577	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	PTPRC_ENST00000594404.1_Missense_Mutation_p.G308E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G310E|PTPRC_ENST00000352140.3_Missense_Mutation_p.G421E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G471E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	469	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAACGTAATGGAAGTGCTGCA	0.299000													15	20					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6984845	6984845	+	RNA	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:6984845C>T	ENST00000600751.1	-	0	270					NR_024075.1																						AGCCCGGTTTCACATTCATTA	0.338000													3	4					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415646	86415646	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:86415646G>A	ENST00000361669.2	+	3	1637	c.538G>A	c.(538-540)Gat>Aat	p.D180N	GRM3_ENST00000439827.1_Missense_Mutation_p.D180N|GRM3_ENST00000536043.1_Missense_Mutation_p.D52N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D178N|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	180					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAACTCAGTGATAAGTCGCG	0.552000													94	111					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220911	153220911	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:153220911G>A	ENST00000310441.7	-	17	3905	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	HCFC1_ENST00000369984.4_Missense_Mutation_p.S980F|HCFC1_ENST00000354233.3_Missense_Mutation_p.S911F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	980					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAGAATGGACACAGGGAG	0.637000													24	1					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802431	185802431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:185802431C>T	ENST00000302277.6	+	4	2902	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770						intracellular	zinc ion binding	p.R770*(1)		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						AAGATTCTATCGAAAACGTAG	0.338000													16	27					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338846	151338846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:151338846G>A	ENST00000435071.1	-	7	1018	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	SELENBP1_ENST00000368868.5_Missense_Mutation_p.P250S|SELENBP1_ENST00000426705.2_Missense_Mutation_p.P292S|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P188S			Q13228	SBP1_HUMAN	selenium binding protein 1	250					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTCCAAGGGAATAAGCCCA	0.572000													52	134					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888039	25888039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:25888039C>T	ENST00000376351.3	+	11	3843	c.3484C>T	c.(3484-3486)Cag>Tag	p.Q1162*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1162						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAATAACTTCCAGCAACCTTT	0.438000													10	19					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41655521	41655521	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:41655521C>T	ENST00000394283.1	-	6	1923	c.697G>A	c.(697-699)Gag>Aag	p.E233K	TFEB_ENST00000358871.2_Missense_Mutation_p.E247K|TFEB_ENST00000373033.1_Missense_Mutation_p.E233K|TFEB_ENST00000420312.1_Missense_Mutation_p.E148K|TFEB_ENST00000403298.4_Missense_Mutation_p.E233K|TFEB_ENST00000230323.4_Missense_Mutation_p.E233K			P19484	TFEB_HUMAN	transcription factor EB	233					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCTGCCGCTCCTTGGCCAGG	0.577000			T	ALPHA	renal (childhood epithelioid)								34	54					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218211	57218211	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:57218211C>T	ENST00000396721.2	-	5	779	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	SDR16C5_ENST00000303749.3_Missense_Mutation_p.E261K|SDR16C5_ENST00000522671.1_Missense_Mutation_p.E261K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	261					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACATTTTTTCTTGTAGAATA	0.313000													12	14					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534448	26534448	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:26534448G>A	ENST00000333478.6	-	8	2133	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.V647V|GPR113_ENST00000311519.1_Silent_p.V716V|GPR113_ENST00000541401.1_Silent_p.V319V	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	716					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCCCAGAAGACACAGTGAG	0.602000													27	31					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46135680	46135680	+	Silent	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:46135680A>G	ENST00000362042.3	+	6	1612	c.996A>G	c.(994-996)gcA>gcG	p.A332A	NFE2L1_ENST00000583378.1_Silent_p.A133A|NFE2L1_ENST00000585291.1_Silent_p.A302A|NFE2L1_ENST00000582155.1_Silent_p.A144A|NFE2L1_ENST00000361665.3_Silent_p.A321A|NFE2L1_ENST00000357480.5_Silent_p.A302A|NFE2L1_ENST00000536222.1_Silent_p.A176A	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	332					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						ACACATCAGCAAGTGAAATCC	0.567000													31	38					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764517	140764517	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140764517C>T	ENST00000518325.1	+	1	2051	c.2051C>T	c.(2050-2052)cCt>cTt	p.P684L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGACGGTCCTTACAACTAT	0.632000													25	26					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241537805	241537805	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:241537805C>T	ENST00000391984.2	+	11	2176	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CAPN10_ENST00000354082.4_Silent_p.F505F|CAPN10_ENST00000404753.3_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Silent_p.F126F	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	660					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGCCAGTTCCTCCAAGAGG	0.622000													15	19					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69252767	69252767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:69252767G>A	ENST00000551568.1	-	8	1085	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	CPM_ENST00000546373.1_Missense_Mutation_p.P342L|CPM_ENST00000338356.3_Missense_Mutation_p.P342L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	342					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGTTCTATAGGGGCAGATATG	0.333000													20	34					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876260	35876260	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:35876260C>T	ENST00000303115.3	+	8	1181	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	351					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AACTGCCCATCTGAGGATGTA	0.502000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						17	15					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101933	47101933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:47101933G>A	ENST00000261292.4	+	5	1044	c.766G>A	c.(766-768)Gat>Aat	p.D256N	LIPG_ENST00000580036.1_Missense_Mutation_p.D256N|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.D292N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	256					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.D256N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGACTCAACGATGTCTTGGG	0.483000													9	19					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756558	248756558	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:248756558G>A	ENST00000330500.2	-	1	542	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AATCTCATGGGATCTGCAGAA	0.507000													45	43					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15870016	15870016	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:15870016G>C	ENST00000338282.6	-	8	914	c.808C>G	c.(808-810)Cgg>Ggg	p.R270G	MYH11_ENST00000576790.1_Missense_Mutation_p.R270G|MYH11_ENST00000452625.2_Missense_Mutation_p.R277G|MYH11_ENST00000396324.3_Missense_Mutation_p.R277G|MYH11_ENST00000300036.5_Missense_Mutation_p.R270G	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	270	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGAATTGCCCGTGATTTTTCT	0.493000			T	CBFB	AML								44	60					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47294040	47294040	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:47294040C>T	ENST00000225941.1	+	2	763	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	ABI3_ENST00000419580.2_Missense_Mutation_p.R89C	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	89					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGTGGAAGCCCGTGTAAGCAC	0.642000										HNSCC(55;0.14)			4	7					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62733964	62733964	+	Silent	SNP	G	G	A	rs143575291		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:62733964G>A	ENST00000371153.4	-	5	2604	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	KANK4_ENST00000371150.1_Silent_p.A98A|KANK4_ENST00000354381.3_Silent_p.A114A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	742										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCACCTCTCGGCCTTGGAGT	0.557000													11	20					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850753	50850753	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:50850753C>T	ENST00000404971.1	-	7	2271	c.931_splice	c.e7-1	p.G311_splice	NRXN1_ENST00000406859.3_Splice_Site_p.R278_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G278_splice|NRXN1_ENST00000401669.2_Splice_Site_p.G278_splice|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Splice_Site_p.R278_splice|NRXN1_ENST00000405472.3_Splice_Site_p.G278_splice	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	278	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCTTCTTTTCCTAGAGGAAA	0.363000													11	7					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135307286	135307286	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:135307286G>A	ENST00000367837.5	-	11	1547	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	HBS1L_ENST00000445176.2_Silent_p.L171L|HBS1L_ENST00000367826.2_Silent_p.L405L|HBS1L_ENST00000367824.4_Silent_p.L283L|HBS1L_ENST00000415177.2_Silent_p.L382L|HBS1L_ENST00000527578.1_Silent_p.L283L	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	447					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTTCACCACTGAGACCACTTG	0.303000													18	17					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203600	26203600	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:26203600T>A	ENST00000264712.3	-	1	1766	c.1187A>T	c.(1186-1188)aAg>aTg	p.K396M	KIF3C_ENST00000405914.1_Missense_Mutation_p.K396M	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	396					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCCCCCTCTTCTCCAGCTG	0.637000													27	35					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180534	37180534	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:37180534G>A	ENST00000331299.5	-	7	1107	c.592C>T	c.(592-594)Cct>Tct	p.P198S	SLC25A21_ENST00000555449.1_Missense_Mutation_p.P198S	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	198					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)		TTATTGACAGGAATCATGTTT	0.373000													9	18					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646388	19646388	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:19646388C>T	ENST00000555938.1	+	7	603	c.591C>T	c.(589-591)ggC>ggT	p.G197G	YJEFN3_ENST00000514277.3_Silent_p.G198G|YJEFN3_ENST00000436027.4_Silent_p.G148G																							CCGTACTGGGCCCCGGCGTGG	0.697000													12	12					0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75737656	75737656	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:75737656G>A	ENST00000312442.2	+	2	404	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.E120K	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	120						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TTGGTATAATGAAACCCAATT	0.333000													15	17					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609012	47609012	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:47609012G>A	ENST00000371891.3	+	5	613	c.582G>A	c.(580-582)ctG>ctA	p.L194L	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.L194L|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.L194L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	194						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATGACCCTGGACACCATCA	0.567000													22	24					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301901	120301901	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:120301901C>T	ENST00000369406.3	-	4	739	c.690G>A	c.(688-690)ctG>ctA	p.L230L	HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Silent_p.L188L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	230					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGTTCCCCTCAGCCCTGGAA	0.458000													26	19					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114947	40114947	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:40114947C>T	ENST00000324616.5	+	13	2007	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	618										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GATCTAATTTCAAAATGTACA	0.413000													18	14					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183031	102183031	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:102183031G>A	ENST00000306176.1	+	7	845	c.745G>A	c.(745-747)Gat>Aat	p.D249N	ZPLD1_ENST00000491959.1_Missense_Mutation_p.D233N|ZPLD1_ENST00000466937.1_Missense_Mutation_p.D233N	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	233	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGTTTTAATGGATTATTGCTA	0.318000													23	38					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885802	88885802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:88885802G>A	ENST00000319675.3	-	1	494	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	133										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						ATTCAGTGAGGCCCAGCACAT	0.562000													29	31					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019087	2019087	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:2019087G>A	ENST00000382722.5	-	4	833	c.471C>T	c.(469-471)ttC>ttT	p.F157F	CACNA2D4_ENST00000585708.1_Silent_p.F93F|CACNA2D4_ENST00000588077.1_Silent_p.F93F|CACNA2D4_ENST00000585732.1_Silent_p.F157F|CACNA2D4_ENST00000587995.1_Silent_p.F157F|CACNA2D4_ENST00000586184.1_Silent_p.F157F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	157						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGATTCATTGAATTCGTGGT	0.592000													9	6					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017438	9017438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9017438C>T	ENST00000397910.4	-	26	38089	c.37886G>A	c.(37885-37887)aGg>aAg	p.R12629K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12631	SEA 4.			L -> V (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCTGCTCCCTGTCCACTCC	0.587000													40	60					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123279642	123279642	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:123279642C>T	ENST00000358487.5	-	7	1062	c.790G>A	c.(790-792)Gca>Aca	p.A264T	FGFR2_ENST00000457416.2_Missense_Mutation_p.A264T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A264T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A264T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A264T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A149T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A264T|FGFR2_ENST00000478859.1_Missense_Mutation_p.A36T|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.A149T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A175T|FGFR2_ENST00000360144.3_Missense_Mutation_p.A175T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	264	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAGGCATTTGCCGGCAGTCCG	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				6	7					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149294570	149294570	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:149294570C>T	ENST00000255266.5	-	6	1053	c.933_splice	c.e6-1	p.E312_splice		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	312	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAGTTAATTTCCTGGCAAAAG	0.368000													22	22					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231194	42231194	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:42231194C>T	ENST00000221992.6	+	9	2181	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	CEACAM5_ENST00000398599.4_Silent_p.V688V|CEACAM5_ENST00000405816.1_Silent_p.V689V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	689				V -> A (in Ref. 3; AAA62835).		anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGGCCACTGTCGGCATCATGA	0.473000													126	174					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201436	187201436	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:187201436G>T	ENST00000264692.4	+	9	1102	c.769G>T	c.(769-771)Gtt>Ttt	p.V257F	F11_ENST00000403665.2_Missense_Mutation_p.V309F			P03951	FA11_HUMAN	coagulation factor XI	309	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ACTGGATATTGTTGCTGCAAA	0.498000													5	109					1	1	1	1	0
ZNF239	8187	broad.mit.edu	37	10	44053108	44053108	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:44053108A>C	ENST00000306006.6	-	2	1072	c.420T>G	c.(418-420)aaT>aaG	p.N140K	ZNF239_ENST00000535642.1_Missense_Mutation_p.N140K|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.N140K|ZNF239_ENST00000374446.2_Missense_Mutation_p.N140K	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTAACTGGCCATTCTGGCAAG	0.438000													23	31					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163717	159163717	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:159163717C>T	ENST00000368125.4	+	5	735	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CADM3_ENST00000368124.4_Missense_Mutation_p.S227L	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	193	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.S227L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTCAGCAGCTCGGTGACATTC	0.522000													21	15					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107100110	107100110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:107100110C>T	ENST00000369046.4	+	6	688	c.584C>T	c.(583-585)tCg>tTg	p.S195L	QRSL1_ENST00000369044.1_Missense_Mutation_p.S195L	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	195					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ACAGGAGGATCGACCAGAAAT	0.408000													19	30					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262741	128262741	+	Silent	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:128262741A>G	ENST00000295321.4	-	3	997	c.738T>C	c.(736-738)cgT>cgC	p.R246R	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.R253R	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	246	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGATACGAGGTTTGG	0.522000													72	89					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	28					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:123813765G>A	ENST00000321252.2	-	1	815	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517000													55	6					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5963220	5963220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:5963220G>A	ENST00000356134.5	-	4	681	c.610C>T	c.(610-612)Cct>Tct	p.P204S	ANO2_ENST00000327087.8_Missense_Mutation_p.P204S|ANO2_ENST00000546188.1_Missense_Mutation_p.P204S	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	208						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCTTGGTAGGAACTTTGATC	0.507000													33	72					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529258	13529258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:13529258C>T	ENST00000318426.2	-	2	299	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	C12orf36_ENST00000532841.1_Missense_Mutation_p.E28K|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.E28K|C12orf36_ENST00000527705.2_Missense_Mutation_p.E28K					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gaagtgtcttcatcaggaaca	0.473000													3	11					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147016597	147016597	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:147016597G>A	ENST00000265272.5	-	11	2012	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	JAKMIP2_ENST00000507386.1_Silent_p.L515L|JAKMIP2_ENST00000333010.6_Silent_p.L473L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	515						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)			CCTCTGCTTGGAGCTGTTCTT	0.438000													37	48					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681884	136681884	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:136681884C>T	ENST00000354570.3	-	13	2164	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	MAP7_ENST00000438100.2_Missense_Mutation_p.R570Q|MAP7_ENST00000544465.1_Missense_Mutation_p.R570Q|MAP7_ENST00000432797.2_Missense_Mutation_p.R439Q|MAP7_ENST00000454590.1_Missense_Mutation_p.R607Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	585					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATGCTTCTCTCGTTCCTGCCG	0.552000													166	197					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56863296	56863296	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:56863296G>A	ENST00000520220.2	+	6	651	c.377G>A	c.(376-378)gGa>gAa	p.G126E	LYN_ENST00000519728.1_Missense_Mutation_p.G147E	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	147					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTGGCACCAGGAAATAGCGCT	0.373000													14	37					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31621780	31621780	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:31621780G>A	ENST00000331728.4	+	2	205	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	LIMK2_ENST00000406516.1_Intron|LIMK2_ENST00000444929.2_Missense_Mutation_p.E31K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	31	LIM zinc-binding 1.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.E31K(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GACTGTCAACGAAACCTGGCA	0.512000													5	11					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93716288	93716288	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:93716288T>G	ENST00000265990.6	+	7	1013	c.705T>G	c.(703-705)aaT>aaG	p.N235K		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	235					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTTAGCAATGATAGCACTG	0.303000													6	11					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221216	48221216	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:48221216G>A	ENST00000394747.1	-	20	3178	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V943V|ABCC11_ENST00000353782.5_Silent_p.V943V|ABCC11_ENST00000356608.2_Silent_p.V943V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	943	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTAAGGACAGGACCAGGAACT	0.473000													16	30					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17084434	17084434	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:17084434G>A	ENST00000418129.2	+	4	3174	c.2709G>A	c.(2707-2709)caG>caA	p.Q903Q	PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000396755.2_Silent_p.Q903Q|PLCL2_ENST00000432376.1_Silent_p.Q903Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1029					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TACATTGTCAGAAGGCAGGTA	0.358000													36	46					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485056	56485056	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:56485056G>A	ENST00000291971.3	+	7	2644	c.2573G>A	c.(2572-2574)aGc>aAc	p.S858N	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	858						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)		ACTTGTGAAAGCCTTGCCTCC	0.498000													67	97					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067472	103067472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103067472C>T	ENST00000264260.2	+	11	1964	c.1375C>T	c.(1375-1377)Cca>Tca	p.P459S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P317S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	459	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGATGTGGCTCCAGGAGGAGG	0.403000													18	18					0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171639123	171639123	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:171639123A>T	ENST00000393792.2	-	3	821	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	139						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGAATATCCAGAGTCTCTAT	0.488000													25	46					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70679599	70679599	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:70679599C>T	ENST00000373585.3	+	8	1208	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	367						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						ATTTGGCCATCCAGTGTCATT	0.358000													20	33					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39162472	39162472	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:39162472G>A	ENST00000359534.3	-	3	701	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	121					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCGGCACCCCGAAGAGACCAT	0.587000													46	57					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44107417	44107417	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:44107417C>T	ENST00000262726.7	-	10	1222	c.969G>A	c.(967-969)aaG>aaA	p.K323K	EFCAB6_ENST00000358439.4_Silent_p.K217K|EFCAB6_ENST00000396231.2_Silent_p.K171K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	323	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CGAGGACAATCTTTAGATAAT	0.373000													9	23					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196699017	196699017	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:196699017C>T	ENST00000312428.6	-	48	9113	c.9013G>A	c.(9013-9015)Gaa>Aaa	p.E3005K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3005	AAA 5 (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						TTGGCTTTTTCCATGTTCTTG	0.408000													17	15					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223141	140223141	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140223141G>A	ENST00000531613.1	+	1	2235	c.2235G>A	c.(2233-2235)gtG>gtA	p.V745V	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.V745V|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGCGGTGGGGAGCTGGT	0.667000													25	25					0	0	1	0	0
RND3	390	broad.mit.edu	37	2	151326666	151326666	+	Silent	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:151326666A>G	ENST00000375734.2	-	5	819	c.570T>C	c.(568-570)ttT>ttC	p.F190F	RND3_ENST00000409557.1_Silent_p.F61F|RND3_ENST00000263895.4_Silent_p.F190F	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	190					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGGCAACGTGAAAAATGTCTC	0.433000													30	49					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873800	88873800	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:88873800A>G	ENST00000301019.4	+	9	2006	c.1387A>G	c.(1387-1389)Agc>Ggc	p.S463G		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	463					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGTGCTGCGGAGCGTCTTTGT	0.647000													17	21					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064768	7064768	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:7064768C>A	ENST00000299481.4	+	4	1857	c.1511C>A	c.(1510-1512)tCc>tAc	p.S504Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	504					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAACCCTTCCTGCCAGCCT	0.408000													54	6					9.22156e-22	9.37927e-22	1	1	0
OR52E8	390079	broad.mit.edu	37	11	5878118	5878118	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:5878118T>A	ENST00000537935.1	-	1	846	c.815A>T	c.(814-816)aAt>aTt	p.N272I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGGGATATTATGGCCAAA	0.403000													73	7					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641458	99641458	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:99641458C>T	ENST00000345514.2	-	3	1768	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	BCL11B_ENST00000357195.3_Missense_Mutation_p.G572E|BCL11B_ENST00000443726.2_Missense_Mutation_p.G378E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	572						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cccgggcACCCCACCACCGCC	0.711000			T	TLX3	T-ALL								6	7					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25478180	25478180	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:25478180G>A	ENST00000381884.4	-	8	2894	c.2709C>T	c.(2707-2709)tcC>tcT	p.S903S	CENPJ_ENST00000545981.1_Silent_p.S903S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	903					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCAAAACCTGGGATCGAGCAT	0.368000													22	35					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61668356	61668356	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:61668356G>A	ENST00000407818.3	+	17	1759	c.1738G>A	c.(1738-1740)Gac>Aac	p.D580N	KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Intron|KIF2A_ENST00000381103.2_Intron	NM_001098511.2	NP_001091981.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	551					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGAATATGACGACTTTTCTCC	0.383000													5	3					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53454293	53454293	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:53454293C>T	ENST00000314250.6	+	19	3012	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	TENC1_ENST00000549700.1_Missense_Mutation_p.P843S|TENC1_ENST00000546602.1_Missense_Mutation_p.P811S|TENC1_ENST00000379902.3_Missense_Mutation_p.P784S|TENC1_ENST00000552570.1_Missense_Mutation_p.P908S|TENC1_ENST00000314276.3_Missense_Mutation_p.P918S|TENC1_ENST00000451358.1_Missense_Mutation_p.P898S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	908	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GTTGTCTGGTCCCTCCACGCC	0.632000													20	26					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426900	6426900	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:6426900A>T	ENST00000348035.4	+	2	306	c.93A>T	c.(91-93)gaA>gaT	p.E31D	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.E31D	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	31					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TTCCTGGAGAATATATCCCTA	0.358000													42	66					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20914557	20914557	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:20914557G>A	ENST00000261497.4	-	8	1213	c.1010C>T	c.(1009-1011)cCa>cTa	p.P337L	USP22_ENST00000537526.2_Missense_Mutation_p.P325L|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	337					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGCCAGAATGGGGTGGAAGA	0.617000													5	6					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104494	168104494	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:168104494G>A	ENST00000409195.1	+	9	6681	c.6592G>A	c.(6592-6594)Gat>Aat	p.D2198N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1976N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2198N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2023	Pro-rich.				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						TTCTAATAAGGATATAAAGAA	0.378000													15	17					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375679	113375679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:113375679G>A	ENST00000316407.4	-	7	5260	c.4850C>T	c.(4849-4851)tCa>tTa	p.S1617L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1617L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1617					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						ATGTTCAGATGAAACCCCTGA	0.448000													25	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399759	179399759	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179399759C>A	ENST00000589042.1	-	358	101807	c.101583G>T	c.(101581-101583)aaG>aaT	p.K33861N	TTN_ENST00000460472.2_Missense_Mutation_p.K24796N|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K32220N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24921N|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K31293N|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24988N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32220	Ig-like 149.						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)			AAATTTCCTTCTTTACCAAAA	0.353000													14	24					1.49906e-05	1.51102e-05	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13719166	13719166	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13719166G>A	ENST00000265104.4	-	72	12428	c.12324C>T	c.(12322-12324)ttC>ttT	p.F4108F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4108	AAA 6 (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)					GCTCATCCATGAAATCAAGTC	0.443000									Kartagener syndrome				17	9					0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67768120	67768120	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:67768120G>A	ENST00000261681.4	+	5	1252	c.591G>A	c.(589-591)ttG>ttA	p.L197L	MPP5_ENST00000555925.1_Silent_p.L163L	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	197	Interaction with LIN7C (By similarity).|L27 2.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAACTGTTTTGAAGCCAGTTC	0.333000													15	22					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955268	57955268	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:57955268C>T	ENST00000334181.4	+	3	1002	c.752C>T	c.(751-753)cCt>cTt	p.P251L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAGGCCTTATGAGGGC	0.403000													18	29					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602605	96602605	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:96602605G>A	ENST00000371321.3	+	7	1055	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	325					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TAAAGTCCAGGAAGAGATTGA	0.488000													40	33					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970443	108970443	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:108970443G>A	ENST00000276659.5	-	5	1101	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	RSPO2_ENST00000378439.2_Missense_Mutation_p.R97C|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94C|RSPO2_ENST00000517781.1_Missense_Mutation_p.R97C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	161	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCACATGTGCGATTATTTCTG	0.383000													24	41					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658413	33658413	+	Missense_Mutation	SNP	G	G	A	rs144000005		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:33658413G>A	ENST00000504830.1	-	7	1401	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R356C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	356	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCGCAGGGGCGATTGAAACCA	0.498000										HNSCC(64;0.19)			37	38					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56330936	56330936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:56330936G>A	ENST00000370754.5	-	98	22533	c.22534C>T	c.(22534-22536)Cgt>Tgt	p.R7512C	DST_ENST00000370788.2_Missense_Mutation_p.R5137C|DST_ENST00000244364.6_Missense_Mutation_p.R4920C|DST_ENST00000421834.2_Missense_Mutation_p.R5219C|DST_ENST00000361203.3_Missense_Mutation_p.R7223C|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R7008C|DST_ENST00000370769.4_Missense_Mutation_p.R7334C			Q03001	DYST_HUMAN	dystonin	7332					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)			CCTCCAACACGAACCATCACA	0.433000													10	13					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308966	248308966	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:248308966G>A	ENST00000366476.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E173K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGGTCTCGGGAAATAGCCCA	0.428000													89	199					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180894	96180894	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:96180894G>A	ENST00000343702.4	-	2	856	c.408C>T	c.(406-408)tcC>tcT	p.S136S	NTN4_ENST00000553059.1_Silent_p.S136S|NTN4_ENST00000344911.4_Silent_p.S99S|NTN4_ENST00000538383.1_Silent_p.S99S	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	136	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCGGCCTGGGGGACTTGAACA	0.517000													9	20					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834554	107834554	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:107834554G>A	ENST00000379028.3	-	17	2162	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	NRCAM_ENST00000351718.4_Silent_p.S558S|NRCAM_ENST00000425651.2_Silent_p.S564S|NRCAM_ENST00000379022.4_Silent_p.S564S|NRCAM_ENST00000413765.2_Silent_p.S545S|NRCAM_ENST00000379024.4_Silent_p.S545S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	564	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGCATTCAAAGGACACCATGC	0.453000													58	57					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315398	30315398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:30315398C>T	ENST00000375377.1	-	3	3780	c.3679G>A	c.(3679-3681)Gca>Aca	p.A1227T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1227										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGAGCCTGCCACACTTGGG	0.483000													5	89					0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156169797	156169797	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156169797C>T	ENST00000359511.4	+	2	331	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Silent_p.L53L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	53					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGAAGAGCCTCTACCATGGGA	0.527000													27	15					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452108	64452108	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:64452108A>G	ENST00000394323.2	-	2	1797	c.1297T>C	c.(1297-1299)Tgg>Cgg	p.W433R		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		433						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gcccctgaccatttagctggc	0.507000													12	10					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860722	45860722	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:45860722C>T	ENST00000397928.1	+	31	4765	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.I1440I|TRPM2_ENST00000300481.9_Silent_p.I1386I|TRPM2_ENST00000397932.2_Silent_p.I1490I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1440	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATGCCTGGATCGAGACGGTGG	0.617000													26	50					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182996	165182996	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:165182996C>T	ENST00000342310.3	-	5	933	c.551G>A	c.(550-552)gGa>gAa	p.G184E	LMX1A_ENST00000294816.2_Missense_Mutation_p.G184E|LMX1A_ENST00000367893.4_Missense_Mutation_p.G184E	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	184						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTCAGCAGTTCCTTTCCCTGC	0.488000													68	159					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587886	204587886	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:204587886G>A	ENST00000367175.1	-	1	3447	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	LRRN2_ENST00000367177.3_Missense_Mutation_p.P412L|LRRN2_ENST00000367176.3_Missense_Mutation_p.P412L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	412	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCCCGGAAGGGCACCTCACG	0.657000													20	39					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1337436	1337436	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:1337436G>A	ENST00000446702.2	+	6	1233	c.606G>A	c.(604-606)gaG>gaA	p.E202E	CNTN6_ENST00000539053.1_Silent_p.E130E|CNTN6_ENST00000350110.2_Silent_p.E202E			Q9UQ52	CNTN6_HUMAN	contactin 6	202	Ig-like C2-type 2.				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)		CTAACAAAGAGGCCCAGAGAA	0.428000													17	13					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24344700	24344700	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:24344700G>A	ENST00000175238.6	+	11	1044	c.960_splice	c.e11-1	p.D321_splice	ADAM7_ENST00000520720.1_Splice_Site_p.D93_splice|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.D321_splice|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	321	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATCATCAGGATCTTTTACC	0.408000													15	10					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202662	39202662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:39202662C>T	ENST00000351578.6	-	2	591	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FYB_ENST00000515010.1_Missense_Mutation_p.G134E|FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	134					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCTTGTTTCCAGGAGGCCA	0.498000													37	30					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397449	40397449	+	Silent	SNP	C	C	T	rs137879982		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:40397449C>T	ENST00000542756.1	-	6	2018	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.P662P|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.P665P|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Silent_p.P670P|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.P670P|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	670					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGAGAGAATCGGATGTTCTC	0.423000													20	22					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263620	3263620	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:3263620C>T	ENST00000602557.1	-	16	2753	c.2198G>A	c.(2197-2199)gGa>gAa	p.G733E	CSMD1_ENST00000400186.3_Missense_Mutation_p.G733E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G733E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G732E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G732E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G732E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G733E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	733	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACTCGGATCCCTGGGTCTT	0.562000													11	15					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604920	2604920	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:2604920G>A	ENST00000358864.1	+	17	2199	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	728						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCCAGTGGGAAAAACAGAA	0.517000													25	56					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141091	167141091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:167141091C>T	ENST00000375387.4	-	12	2189	c.1849G>A	c.(1849-1851)Ggg>Agg	p.G617R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.G617R|SCN9A_ENST00000409672.1_Missense_Mutation_p.G616R|SCN9A_ENST00000409435.1_Missense_Mutation_p.G616R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	616						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)	TGCATTTTCCCGTTCACCGGC	0.592000													22	28					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375784	93375784	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:93375784C>T	ENST00000375765.3	-	2	714	c.326G>A	c.(325-327)gGg>gAg	p.G109E		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	109					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTCCACGTCCCCTTTGATCTC	0.592000													63	7					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155257122	155257122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155257122C>T	ENST00000368358.3	+	7	1644	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	546						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			TCGGCTGCTCCGCATCGGTGA	0.597000													19	41					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756350	94756350	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:94756350T>A	ENST00000554723.1	-	2	1119	c.701A>T	c.(700-702)aAt>aTt	p.N234I	SERPINA10_ENST00000554173.1_Missense_Mutation_p.N194I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.N194I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.N194I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	194					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATTGCGAAAATTCATAGGCAC	0.398000													16	26					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604515	57604515	+	Silent	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:57604515C>A	ENST00000243077.3	+	83	13235	c.12769C>A	c.(12769-12771)Cgg>Agg	p.R4257R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4257	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCACGTGCCGGTGCCCCAC	0.662000													27	61					1.07121e-22	1.09172e-22	1	1	0
REPS2	9185	broad.mit.edu	37	X	17165542	17165542	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:17165542C>T	ENST00000357277.3	+	18	2092	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	REPS2_ENST00000303843.7_Missense_Mutation_p.H640Y|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.H440Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	641	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCAGGAGGTTCATCAAGAACG	0.408000													91	10					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50786292	50786292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:50786292G>A	ENST00000433963.1	+	17	2973	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	USP8_ENST00000307179.4_Missense_Mutation_p.E825K|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.E719K|USP8_ENST00000396444.3_Missense_Mutation_p.E825K	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	825					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCATAAAGGTGAAGTGGCAGA	0.348000													26	6					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836998	43836998	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43836998G>A	ENST00000372781.3	+	2	1117	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	SEMG1_ENST00000244069.6_Missense_Mutation_p.E294K	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCAAGTACGGAAGAAAGACG	0.408000													29	15					0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63719957	63719957	+	Silent	SNP	C	C	T	rs140498456		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:63719957C>T	ENST00000377793.4	+	5	431	c.330C>T	c.(328-330)atC>atT	p.I110I	NAA40_ENST00000456907.2_Silent_p.I70I|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Silent_p.I89I|NAA40_ENST00000536939.1_3'UTR	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	110	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGTACCTCATCGCGTGGGAAA	0.567000													69	7					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255091	15255091	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:15255091C>T	ENST00000378116.4	-	8	2502	c.2496G>A	c.(2494-2496)caG>caA	p.Q832Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	832						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCGTCTCCTCCTGCAGGCTGG	0.642000													56	53					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797334	101797334	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:101797334G>A	ENST00000375001.3	+	18	2541	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCCCCGGGGAAAAAGGGAC	0.617000													52	3					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46292272	46292272	+	Missense_Mutation	SNP	C	C	T	rs141576642	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:46292272C>T	ENST00000359930.4	-	16	3003	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	SULF2_ENST00000484875.1_Missense_Mutation_p.D718N|SULF2_ENST00000467815.1_Missense_Mutation_p.D718N|SULF2_ENST00000361612.4_Missense_Mutation_p.D718N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	718					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTGCACGTGTCGTTGTTCTGC	0.612000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	83	57					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468850	160468850	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:160468850C>T	ENST00000356956.1	+	17	2404	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	752					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCTACAACTTCCGGTGGTACA	0.552000													42	40					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39306534	39306534	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:39306534G>A	ENST00000221418.4	-	9	1077	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATGGTCGCGGGAATACAGCAG	0.612000													25	24					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203736	56203736	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:56203736C>T	ENST00000361673.3	-	5	3896	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1228							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						CTCCCAATTTCCAGGTCTATA	0.473000													40	50					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154176065	154176065	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:154176065C>T	ENST00000360256.4	-	13	2221	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	674	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAAGGTATATCCAGAGAAGAA	0.413000													31	2					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646866	54646866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54646866C>T	ENST00000406403.1	+	2	1640	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R13C			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	13					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGATTGATCGCTGCCTCAA	0.537000													64	89					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493150	173493150	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:173493150G>A	ENST00000367714.3	-	21	3020	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	866					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCAGCCAAATGATGTTGTGAA	0.348000													18	52					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61935342	61935342	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:61935342G>A	ENST00000577390.1	-	3	1242	c.288C>T	c.(286-288)atC>atT	p.I96I	CDH8_ENST00000584337.1_Silent_p.I96I|CDH8_ENST00000577730.1_Silent_p.I96I|CDH8_ENST00000299345.6_Silent_p.I96I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGATATACTTGATTTTTTTGC	0.378000													8	19					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334225	108334225	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:108334225T>C	ENST00000520734.1	-	3	392	c.107A>G	c.(106-108)cAa>cGa	p.Q36R	ANGPT1_ENST00000520052.1_Missense_Mutation_p.Q36R			Q15389	ANGP1_HUMAN	angiopoietin 1	236					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCTGTTTAATTGCTTTTCCAG	0.433000													13	26					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436237	158436237	+	Missense_Mutation	SNP	G	G	A	rs142494640		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:158436237G>A	ENST00000289451.2	+	1	966	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGAAATAAGGAATTCAAATC	0.378000													53	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179584073G>A	ENST00000589042.1	-	83	24268	c.24044C>T	c.(24043-24045)tCa>tTa	p.S8015L	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7698L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7698	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCAACTGAAATCGGGGC	0.502000													41	58					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791071	15791071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:15791071G>A	ENST00000550308.1	+	4	741	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CYP4F12_ENST00000324632.9_Missense_Mutation_p.D121N	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCACCCAAGGATAATCTCTT	0.567000													66	84					0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804085	71804085	+	Silent	SNP	C	C	T	rs149967896		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:71804085C>T	ENST00000304411.2	+	1	885	c.885C>T	c.(883-885)ctC>ctT	p.L295L		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCTTCCTGCTCCTCTGGGGGC	0.697000													8	28					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178943785	178943785	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:178943785C>T	ENST00000263967.3	+	17	2609	c.2452C>T	c.(2452-2454)Cgt>Tgt	p.R818C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	818	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCAAATTATTCGTATTATGGA	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	20					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189608589	189608589	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:189608589G>A	ENST00000264731.3	+	13	1753	c.1664G>A	c.(1663-1665)aGg>aAg	p.R555K	TP63_ENST00000392463.2_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Missense_Mutation_p.R470K|TP63_ENST00000440651.2_Missense_Mutation_p.R551K|TP63_ENST00000456148.1_Missense_Mutation_p.R457K|TP63_ENST00000354600.5_Missense_Mutation_p.R461K|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Missense_Mutation_p.R376K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	555	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCTTAGCGAGGTTGGGCTGT	0.463000										HNSCC(45;0.13)			11	12					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600549	29600549	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:29600549C>T	ENST00000431530.3	+	1	1802	c.1744C>T	c.(1744-1746)Cca>Tca	p.P582S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	572						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTTGGTAGTTCCACCCCCTAC	0.532000													25	36					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090631	111090631	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:111090631T>A	ENST00000262839.2	-	6	2329	c.1411A>T	c.(1411-1413)Atg>Ttg	p.M471L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	471					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGTGCCACATTTCCCATTCC	0.438000													19	3					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948485	198948485	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:198948485C>T	ENST00000428675.1	+	2	642	c.244C>T	c.(244-246)Cct>Tct	p.P82S		NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	82					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)	TTTACAGGATCCTTCAAACCA	0.343000													8	14					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241127	65241127	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:65241127C>A	ENST00000389722.3	-	23	5014	c.4961G>T	c.(4960-4962)gGc>gTc	p.G1654V	SPTB_ENST00000542895.1_Missense_Mutation_p.G1654V|SPTB_ENST00000389720.3_Missense_Mutation_p.G1654V|SPTB_ENST00000389721.5_Missense_Mutation_p.G1654V|SPTB_ENST00000556626.1_Missense_Mutation_p.G1654V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1654					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCAGGGTGGCCTGCAGACAG	0.642000													3	3					0.00024832	0.000250051	1	1	0
CHL1	10752	broad.mit.edu	37	3	404910	404910	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:404910G>A	ENST00000256509.2	+	14	2071	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	CHL1_ENST00000397491.2_Missense_Mutation_p.E461K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	461	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCAGAAGGTGGAAGAAGTGAA	0.448000													9	18					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32897411	32897411	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:32897411G>A	ENST00000317907.4	+	8	1243	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	338							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCAGATGCCGGATCTGTGTGC	0.378000													26	38					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280205	32280205	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:32280205G>A	ENST00000360482.2	-	2	859	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	SPOCD1_ENST00000373648.2_Missense_Mutation_p.P244S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P244S|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	244					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAACTTGGGGAGGGTCTCCC	0.617000													41	59					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:11098827C>T	ENST00000470054.1	-	0	98									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637000													7	23					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420246	55420246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:55420246C>T	ENST00000242994.3	+	2	401	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	8					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S8F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TTTGTAAAATCCAAGGAGATG	0.393000													7	14					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932432	83932432	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:83932432G>A	ENST00000345382.2	-	4	1656	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S517L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	524					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CATTTCGTTTGAAATGAGCTG	0.483000													22	33					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559872	140559872	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140559872G>A	ENST00000239444.2	+	1	2502	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATCAGTACGAGGTGTGCCT	0.577000													26	45					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255022	51255022	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:51255022G>A	ENST00000404971.1	-	2	1729	c.390C>T	c.(388-390)atC>atT	p.I130I	NRXN1_ENST00000406859.3_Silent_p.I130I|NRXN1_ENST00000406316.2_Silent_p.I130I|NRXN1_ENST00000401669.2_Silent_p.I130I|NRXN1_ENST00000405581.1_Silent_p.I130I|NRXN1_ENST00000402717.3_Silent_p.I130I|NRXN1_ENST00000405472.3_Silent_p.I130I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	130	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACCTGGTCGATGAAGAGCG	0.682000													15	15					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459884	186459884	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186459884G>A	ENST00000265023.4	+	10	1911	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	567					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TCAGGACTCTGATCTCATTGC	0.473000													29	37					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120386063	120386063	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:120386063G>A	ENST00000331113.4	+	5	2662	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	566					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGTGTGGAGAGAACACCTCTG	0.443000													22	26					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59835523	59835523	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:59835523C>T	ENST00000395125.1	+	25	3206	c.3183C>T	c.(3181-3183)acC>acT	p.T1061T	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Silent_p.T1061T|DAAM1_ENST00000360909.3_Silent_p.T1051T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1061					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AACGTATTACCAACCAGATGA	0.383000													11	24					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35808549	35808549	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:35808549C>T	ENST00000216122.4	+	8	1120	c.966C>T	c.(964-966)ttC>ttT	p.F322F	MCM5_ENST00000382011.5_Silent_p.F279F|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	322					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						AGGAGGAGTTCCGTCGCCTGG	0.612000													39	45					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518198	113518198	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:113518198C>T	ENST00000284601.3	-	4	3017	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	983					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						TACCTGATGTCACTATTCCTG	0.368000													42	52					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634780	6634780	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:6634780G>A	ENST00000333172.6	+	3	781	c.588G>A	c.(586-588)gtG>gtA	p.V196V	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.V196V	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	196					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGTACCAGGTGGAGACCATGG	0.587000													13	17					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152555	27152555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:27152555G>A	ENST00000343028.4	-	3	526	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	101						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCTGGTCTAAGGATGAAAACC	0.468000													22	22					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91519980	91519980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:91519980G>A	ENST00000361188.5	-	9	2340	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R377*|PRC1_ENST00000361919.3_Nonsense_Mutation_p.R377*|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R336*			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	377	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.R377*(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTGTAAATCGATTTGGATCT	0.373000													34	32					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50357928	50357928	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:50357928G>A	ENST00000293599.6	+	3	730	c.582G>A	c.(580-582)gtG>gtA	p.V194V		NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	194					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						GCCCTGCGGTGGTCATGAATC	0.607000													20	28					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961356	1961356	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:1961356C>T	ENST00000217305.2	-	4	603	c.378G>A	c.(376-378)ctG>ctA	p.L126L	PDYN_ENST00000539905.1_Silent_p.L126L|PDYN_ENST00000540134.1_Silent_p.L126L|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	126					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTCTCCTCCAGGCTCTTGC	0.547000													83	49					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480638	57480638	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:57480638C>T	ENST00000371236.2	-	12	1625	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	DAB1_ENST00000414851.2_Silent_p.Q436Q|DAB1_ENST00000371234.4_Silent_p.Q454Q|DAB1_ENST00000439789.2_Silent_p.Q368Q|DAB1_ENST00000420954.2_Silent_p.Q452Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Silent_p.Q487Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	487					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGTCTGTATCCTGTGCCACCC	0.567000													19	17					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183667837	183667837	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:183667837G>A	ENST00000334444.6	-	21	3261	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I	ABCC5_ENST00000265586.6_Silent_p.I1007I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1007	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGACTCCTGCGATCATTCCCA	0.512000													7	13					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10062315	10062315	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:10062315C>T	ENST00000380861.4	+	7	1042	c.651C>T	c.(649-651)atC>atT	p.I217I	WWC3_ENST00000454666.1_Silent_p.I217I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	217										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGATATCATCGGGGAGGTAT	0.567000													38	0					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793676	13793676	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13793676G>A	ENST00000265104.4	-	49	8276	c.8172C>T	c.(8170-8172)ttC>ttT	p.F2724F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2724	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F2724L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAATATAGAGAACTGCCTCT	0.502000									Kartagener syndrome				24	41					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64095186	64095186	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:64095186A>T	ENST00000371083.4	+	2	759	c.391A>T	c.(391-393)Att>Ttt	p.I131F	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.I113F	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	113					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	p.I113V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGTGGGATCATTCTGACAGC	0.463000													52	67					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275301	71275301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:71275301C>T	ENST00000399575.2	+	3	430	c.256C>T	c.(256-258)Caa>Taa	p.Q86*	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	86	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATTCTATCTCAACTCTTTCC	0.423000													74	84					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201507521	201507521	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:201507521G>A	ENST00000374700.2	+	25	3085	c.2844G>A	c.(2842-2844)gaG>gaA	p.E948E	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	948					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TATCCCCTGAGAAGGTAATAC	0.493000													15	20					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59148172	59148172	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:59148172G>A	ENST00000472487.1	-	8	583	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	182					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGAAGATTATGGCCGGTCTTC	0.333000													7	13					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956773	68956773	+	Silent	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:68956773T>G	ENST00000288368.4	+	8	1168	c.891T>G	c.(889-891)cgT>cgG	p.R297R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393000													13	26					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	635807	635807	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:635807C>T	ENST00000406797.1	-	7	858	c.684G>A	c.(682-684)cgG>cgA	p.R228R	PRKAR1B_ENST00000537384.1_Silent_p.R228R|PRKAR1B_ENST00000403562.1_Silent_p.R228R|PRKAR1B_ENST00000544935.1_Silent_p.R228R|PRKAR1B_ENST00000360274.4_Silent_p.R228R	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	228					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGTAGCTGTCCCGGTCGATCC	0.642000													36	65					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287924	46287924	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:46287924G>A	ENST00000378966.3	+	2	1072	c.656G>A	c.(655-657)cGc>cAc	p.R219H	SPERT_ENST00000310521.1_Missense_Mutation_p.R255H			Q8NA61	SPERT_HUMAN	spermatid associated	255						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAGGAGAATCGCGCGCTGCAG	0.692000													6	8					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765611	50765611	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:50765611C>T	ENST00000404971.1	-	11	3382	c.2043G>A	c.(2041-2043)gtG>gtA	p.V681V	NRXN1_ENST00000406859.3_Silent_p.V641V|NRXN1_ENST00000406316.2_Silent_p.V641V|NRXN1_ENST00000401669.2_Silent_p.V641V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.V633V|NRXN1_ENST00000405472.3_Silent_p.V633V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	641	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.V681V(1)|p.V682V(1)|p.V641V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGATGCAGCCCACGTAGCCAT	0.522000													58	88					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554123	223554123	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:223554123C>T	ENST00000446656.3	+	3	413	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	138					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GGCTTTACTTCATATCTTCAC	0.428000													26	36					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46995453	46995453	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:46995453C>T	ENST00000371253.2	-	3	329	c.114G>A	c.(112-114)aaG>aaA	p.K38K	GPR110_ENST00000371243.2_Silent_p.K38K|GPR110_ENST00000449332.2_Intron	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	38					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GATGTTTTTTCTTATTCACAA	0.393000													14	20					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64669617	64669617	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:64669617C>T	ENST00000357395.3	+	101	18436	c.7292C>T	c.(7291-7293)tCc>tTc	p.S2431F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6008F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2431F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2680F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6046F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6046F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6046					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGAGCTTTCCAAGCCTGTT	0.478000													15	15					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987870	22987870	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:22987870G>A	ENST00000509305.1	+	3	1093	c.747G>A	c.(745-747)atG>atA	p.M249I	C1QB_ENST00000314933.6_Missense_Mutation_p.M251I			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	251	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCAGATATGGAGGCCTGAC	0.597000													24	33					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60587958	60587958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:60587958C>T	ENST00000406854.1	+	8	2541	c.1987C>T	c.(1987-1989)Cgt>Tgt	p.R663C	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.R663C|PCNXL4_ENST00000406949.1_Missense_Mutation_p.R429C|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R429C					pecanex-like 4 (Drosophila)																		TTTTCAGGATCGTTTAATGTG	0.313000													31	36					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350952	101350952	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:101350952G>A	ENST00000534062.1	-	1	232	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	58										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGCCACTGGGGGGCTCCTTCT	0.632000													12	19					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653718	159653718	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:159653718G>A	ENST00000297267.9	+	11	2374	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G662E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	725	Ser-rich.					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)		CCCCATGGGGGATCATCTCGG	0.652000													16	13					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67858669	67858669	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:67858669C>T	ENST00000388833.3	+	6	880	c.503C>T	c.(502-504)tCa>tTa	p.S168L	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.S153L|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.S222L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	168					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GAGAAGATTTCATTGCAGAGC	0.478000													3	15					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811950	156811950	+	Silent	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156811950T>C	ENST00000368195.3	-	19	3747	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	NTRK1_ENST00000392302.2_Silent_p.A29A	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1117	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTTGCGGGCTGCTAGATCTC	0.567000													11	30					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25182349	25182349	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:25182349A>G	ENST00000409280.1	-	8	1077	c.769T>C	c.(769-771)Tgg>Cgg	p.W257R	C7orf31_ENST00000283905.3_Missense_Mutation_p.W257R			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	257										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATAGGGTCCCATGAATTTAAA	0.398000													53	58					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779371	52779371	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:52779371T>G	ENST00000216862.3	-	7	1268	c.875A>C	c.(874-876)aAg>aCg	p.K292T	CYP24A1_ENST00000395954.3_Missense_Mutation_p.K150T|CYP24A1_ENST00000395955.3_Missense_Mutation_p.K292T	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	292					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.L290_Y293>Y(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CTGAGAATACTTCTCTAACCG	0.423000													15	52					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55857580	55857580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:55857580G>A	ENST00000422046.2	-	4	699	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.H140Y|CES1_ENST00000360526.3_Missense_Mutation_p.H141Y			P23141	EST1_HUMAN	carboxylesterase 1	140					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCCCCTCCGTGGATCCACACC	0.562000													6	37					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:86808051G>A	ENST00000441037.2	+	10	1606	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000													17	22					0	0	1	0	0
RP11-508N22.8	0	broad.mit.edu	37	10	38484548	38484548	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:38484548G>A	ENST00000423162.1	+	0	381																											TGACCTTGGTGATATATTAAC	0.363000													7	21					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66902208	66902208	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:66902208C>T	ENST00000269080.2	-	17	2392	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	ABCA8_ENST00000586539.1_Missense_Mutation_p.G792E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G792E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	752						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)					TGTAGATTTTCCTTCTAGCTT	0.313000													21	31					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802139	66802139	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:66802139G>A	ENST00000393946.2	+	6	1220	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SYT12_ENST00000525457.1_Missense_Mutation_p.E20K|SYT12_ENST00000526281.1_Intron|SYT12_ENST00000527043.1_Missense_Mutation_p.E20K			Q8IV01	SYT12_HUMAN	synaptotagmin XII	20						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						CCCTGGCTGGGAGGTGGGTGT	0.647000													45	5					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448956	60448956	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:60448956G>A	ENST00000360469.5	+	7	1138	c.1050_splice	c.e7+1	p.E350_splice	CDH4_ENST00000543233.1_Splice_Site_p.E276_splice	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	350	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGACCGAGAGGTGAGGCGGG	0.667000													57	38					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864668	160864668	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:160864668C>T	ENST00000392145.1	+	9	1434	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	SLC22A3_ENST00000275300.2_Silent_p.F468F			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	468						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ACAGAAATTTCGGAGTTTCGC	0.383000													9	7					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088185	42088185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:42088185G>A	ENST00000395925.3	-	5	668	c.584C>T	c.(583-585)cCc>cTc	p.P195L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	195					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTAATGTAGGGATGTGGAGG	0.552000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				50	74					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106890098	106890098	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:106890098G>A	ENST00000379987.2	+	12	1865	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	NPNT_ENST00000506666.1_Missense_Mutation_p.G551E|NPNT_ENST00000453617.2_Missense_Mutation_p.G567E|NPNT_ENST00000427316.2_Missense_Mutation_p.G580E|NPNT_ENST00000514622.1_Missense_Mutation_p.G521E|NPNT_ENST00000305572.8_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	550	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGGGAGATTGGATTAGATGAT	0.463000													7	9					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57738844	57738844	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:57738844G>A	ENST00000360716.3	+	7	977	c.756G>A	c.(754-756)agG>agA	p.R252R	CCDC135_ENST00000394337.4_Silent_p.R252R|CCDC135_ENST00000336825.8_Silent_p.R187R			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	252						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AACCCCCCAGGGACCTGTGCA	0.567000													18	14					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450436	155450436	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155450436A>T	ENST00000368346.3	-	3	2864	c.2225T>A	c.(2224-2226)tTt>tAt	p.F742Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.F742Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	742					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACGTTTTTAAAAAGCTCTGA	0.383000													43	35					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411348	63411348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:63411348C>A	ENST00000330258.3	-	2	2091	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.E607*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.E607*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCATAGGCTTCCCTGCCATAA	0.637000													9	2					0.000673444	0.000676791	1	1	0
BMX	660	broad.mit.edu	37	X	15540668	15540668	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:15540668G>A	ENST00000357607.2	+	7	898	c.710G>A	c.(709-711)aGg>aAg	p.R237K	BMX_ENST00000342014.6_Missense_Mutation_p.R237K|BMX_ENST00000348343.6_Missense_Mutation_p.R237K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	237					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TATATTCCAAGGGAAGACTTC	0.483000													27	3					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52020621	52020621	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:52020621G>A	ENST00000458031.2	+	10	1028	c.796_splice	c.e10-1	p.G266_splice	ACY1_ENST00000494103.1_Splice_Site_p.G104_splice|ACY1_ENST00000404366.2_Splice_Site_p.G176_splice|ABHD14A-ACY1_ENST00000463937.1_Splice_Site_p.G277_splice|ACY1_ENST00000476854.1_Splice_Site_p.G176_splice|ACY1_ENST00000476351.1_Splice_Site_p.G141_splice			Q03154	ACY1_HUMAN	aminoacylase 1	176					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CCCTCCTCAGGCATAGCCAAT	0.582000													67	65					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72423453	72423453	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:72423453C>T	ENST00000340595.3	+	19	2852	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	SLC4A4_ENST00000425175.1_Silent_p.L930L|SLC4A4_ENST00000351898.6_Silent_p.L846L|SLC4A4_ENST00000264485.5_Silent_p.L930L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	930						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAAGCTGCTTCTGATGCCTCT	0.493000													9	19					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413311	182413311	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:182413311G>A	ENST00000410087.3	-	8	1194	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	CERKL_ENST00000374970.2_Missense_Mutation_p.S296L|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.S252L|CERKL_ENST00000339098.5_Missense_Mutation_p.S391L|CERKL_ENST00000409440.3_Missense_Mutation_p.S347L	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	391					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGTAAAAATGATATTTCACA	0.303000													6	11					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670039	44670039	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:44670039G>A	ENST00000454036.1	+	8	1071	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTTGGGAAGGAAATGAGACG	0.552000													15	51					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101980593	101980593	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:101980593C>T	ENST00000476832.1	-	2	935	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ALG2_ENST00000319033.6_Missense_Mutation_p.D199N	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TGGCCAAGGTCGGACTGTTGG	0.478000													51	1					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272366	158272366	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:158272366C>T	ENST00000264192.3	-	8	1024	c.903G>A	c.(901-903)agG>agA	p.R301R	CYTIP_ENST00000540637.1_Silent_p.R195R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	301	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGCTCCGGTTCCTCCTTGAAG	0.547000													22	19					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97915750	97915750	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:97915750G>A	ENST00000370192.3	-	14	1870	c.1770C>T	c.(1768-1770)atC>atT	p.I590I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	590					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCCCCGGATGATTCTGGGGG	0.418000													16	27					0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55028623	55028623	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:55028623C>T	ENST00000257867.4	-	1	56	c.3G>A	c.(1-3)atG>atA	p.M1I	LACRT_ENST00000547511.1_Start_Codon_SNP_p.M1I	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	1					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TGGTAAATTTCATTCTTTGGG	0.512000													20	24					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789900	59789900	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:59789900T>C	ENST00000395125.1	+	5	754	c.731T>C	c.(730-732)aTg>aCg	p.M244T	DAAM1_ENST00000351081.1_Missense_Mutation_p.M244T|DAAM1_ENST00000360909.3_Missense_Mutation_p.M244T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	244	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGCAGGCCATGCTGCACTAC	0.552000													10	5					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824051	102824051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:102824051G>A	ENST00000370200.5	+	3	871	c.545G>A	c.(544-546)tGg>tAg	p.W182*		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	182	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TATGACACTTGGAATGTGACA	0.557000													19	14					0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50617356	50617356	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:50617356C>T	ENST00000232854.4	+	9	1404	c.852C>T	c.(850-852)ctC>ctT	p.L284L	HEMK1_ENST00000455834.1_Silent_p.L284L|HEMK1_ENST00000434410.1_Silent_p.L284L	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	284					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CACCCCGGCTCCTGAAAGACT	0.597000													19	22					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83378555	83378555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:83378555G>A	ENST00000566620.1	+	6	1015	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	CDH13_ENST00000428848.3_Missense_Mutation_p.R203Q|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R289Q	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	242	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATGACAACCGACCGATCTTT	0.502000													35	35					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361184	105361184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:105361184C>T	ENST00000297581.2	+	2	453	c.404C>T	c.(403-405)tCc>tTc	p.S135F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S135F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	135					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AAGAGCTTTTCCATACATTTT	0.393000													17	31					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418926	178418926	+	Silent	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:178418926G>T	ENST00000231188.5	-	2	841	c.663C>A	c.(661-663)tcC>tcA	p.S221S	GRM6_ENST00000517717.1_Silent_p.S221S	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	221					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGTTGCCCTCGGAGGCCAGCG	0.612000													3	38					1	1	1	1	0
ZNF786	136051	broad.mit.edu	37	7	148769369	148769369	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:148769369G>A	ENST00000316286.9	-	3	509	c.237C>T	c.(235-237)atC>atT	p.I79I	ZNF786_ENST00000491431.1_Silent_p.I165I|ZNF786_ENST00000451334.3_Silent_p.I128I			Q8N393	ZN786_HUMAN	zinc finger protein 786	165	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGACCTGGGATTCCTTCTT	0.612000													17	15					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703946	156703946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156703946G>A	ENST00000368216.4	+	6	1412	c.782G>A	c.(781-783)gGg>gAg	p.G261E	RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	261						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CACGCCTGTGGGGATCTGAGT	0.627000													21	41					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342338	29342338	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:29342338G>A	ENST00000396806.3	-	1	730	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ACCATAAAATGGGAGGCACAA	0.463000													12	23					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634389	180634389	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:180634389G>A	ENST00000410066.1	-	3	697	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	32						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGGAGAAAAGAATTTTCTTT	0.473000													15	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599502	179599502	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179599502C>T	ENST00000589042.1	-	51	15373	c.15149G>A	c.(15148-15150)gGg>gAg	p.G5050E	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G4733E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3806E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4733	Ig-like 31.						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)			TGAGTAACTCCCACTGTCTTC	0.363000													38	47					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301382	72301382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:72301382G>A	ENST00000579490.1	+	8	1318	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	DNAI2_ENST00000446837.2_Missense_Mutation_p.E338K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E338K|DNAI2_ENST00000307504.5_Missense_Mutation_p.E195K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E338K			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	338					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.E338K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTGGGGACCGAGCAGGGCAT	0.582000									Kartagener syndrome				20	23					0	0	1	0	0
ZAR1	326340	broad.mit.edu	37	4	48495020	48495020	+	Silent	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:48495020C>A	ENST00000327939.4	+	3	1162	c.1122C>A	c.(1120-1122)atC>atA	p.I374I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	374					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						TGGAGGATATCACCTGTCAAG	0.408000													25	21					2.41591e-17	2.44984e-17	1	1	0
NOS1	4842	broad.mit.edu	37	12	117728120	117728120	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:117728120G>A	ENST00000317775.6	-	4	1649	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	NOS1_ENST00000344089.3_Silent_p.S340S|NOS1_ENST00000338101.4_Missense_Mutation_p.H322Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	322					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)	CTCTTAAGGTGGAGGGTGTCA	0.512000													14	7					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659103	145659103	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:145659103C>A	ENST00000409379.3	-	22	3456	c.3427G>T	c.(3427-3429)Gac>Tac	p.D1143Y		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1143					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCACAGCCGTCCCCCAGGGGG	0.657000													8	20					3.09899e-07	3.12994e-07	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20248980	20248980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20248980C>T	ENST00000315957.4	+	1	580	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCGACTTCCTTTCTGTGG	0.488000													54	192					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55371725	55371725	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:55371725C>G	ENST00000297316.4	+	2	619	c.415C>G	c.(415-417)Ccg>Gcg	p.P139A		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	139					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CAAGTACCGGCCGCGGCGGCG	0.731000													9	6					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40589088	40589088	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:40589088G>A	ENST00000260402.3	-	14	1594	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	PLCB2_ENST00000456256.2_Missense_Mutation_p.P449S|PLCB2_ENST00000557821.1_Missense_Mutation_p.P449S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	449	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCAGGGCTGGGCAGGGGGACA	0.547000													22	1					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739041	119739041	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:119739041G>A	ENST00000541757.1	+	10	969	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	MARCO_ENST00000327097.4_Missense_Mutation_p.A275T			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	275	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCCTCCTGGAGCCCAGGGGAG	0.517000													7	6					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168810844	168810844	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:168810844C>T	ENST00000464456.1	-	12	3675	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	MECOM_ENST00000472280.1_Silent_p.A835A|MECOM_ENST00000460814.1_Silent_p.A825A|MECOM_ENST00000468789.1_Silent_p.A834A|MECOM_ENST00000433243.2_Silent_p.A835A|MECOM_ENST00000264674.3_Silent_p.A899A|MECOM_ENST00000392736.3_Silent_p.A834A|MECOM_ENST00000494292.1_Silent_p.A1013A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATCCAGAATCGCACCTGTAC	0.433000													19	35					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	50					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368264	27368264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:27368264G>A	ENST00000244576.4	+	3	660	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATCCTCTTTTGAGAACACAGT	0.418000													21	28					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24566227	24566227	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:24566227C>T	ENST00000216780.4	+	2	424	c.156C>T	c.(154-156)gcC>gcT	p.A52A	NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Silent_p.A64A|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Silent_p.A52A	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	52					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGCACAGTGCCCGCCTGTGCC	0.582000													17	41					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55371723	55371723	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:55371723G>A	ENST00000297316.4	+	2	617	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	138					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TACAAGTACCGGCCGCGGCGG	0.726000													8	6					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088518	94088518	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:94088518G>A	ENST00000553484.1	+	31	5159	c.5005G>A	c.(5005-5007)Gaa>Aaa	p.E1669K	UNC79_ENST00000555664.1_Missense_Mutation_p.E1647K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1470K|UNC79_ENST00000393151.2_Missense_Mutation_p.E1647K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1647						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGAGAGTGACGAAGAAGAGGA	0.552000													23	30					0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43964457	43964457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43964457G>A	ENST00000372733.3	-	2	203	c.164C>T	c.(163-165)tCt>tTt	p.S55F	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	55						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AAAGTCATCAGATTCCTGCCC	0.602000			T	ROS1	NSCLC								33	20					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119469231	119469231	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:119469231C>T	ENST00000369429.3	-	3	432	c.423G>A	c.(421-423)agG>agA	p.R141R	TBX15_ENST00000207157.3_Silent_p.R35R			Q96SF7	TBX15_HUMAN	T-box 15	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGGAAACATCCTCCTATGAA	0.403000													17	8					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635399	42635399	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:42635399G>A	ENST00000358131.5	+	3	613	c.405G>A	c.(403-405)caG>caA	p.Q135Q	TOX2_ENST00000423191.1_Silent_p.Q84Q|TOX2_ENST00000372999.1_Silent_p.Q84Q|TOX2_ENST00000341197.3_Silent_p.Q126Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCTAGCACAGGACAGCCACC	0.627000													16	33					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149602590	149602590	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:149602590G>A	ENST00000348628.6	-	17	2060	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	CAMK2A_ENST00000398376.3_Silent_p.V476V|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	465					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGAAGTGGACGATCTGCC	0.637000													38	47					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151908847	151908847	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:151908847G>A	ENST00000370291.2	+	4	366	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CSAG1_ENST00000452779.2_Missense_Mutation_p.R29K|CSAG1_ENST00000370287.3_Missense_Mutation_p.R29K			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	29										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGACTGTACAGAGACACTGGT	0.532000													77	4					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108833269	108833269	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:108833269G>A	ENST00000232603.5	-	2	163	c.81C>T	c.(79-81)ttC>ttT	p.F27F	MORC1_ENST00000483760.1_Silent_p.F27F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	27					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCCAAAAAGGAAACTGTGAG	0.358000													5	9					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296141	233296141	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:233296141G>A	ENST00000258229.8	-	19	3639	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A	PCNXL2_ENST00000488780.2_Silent_p.A268A|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1135						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAAACCCCACGGCTCCAGCCA	0.493000													22	7					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84904618	84904618	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:84904618G>A	ENST00000403245.3	-	10	1125	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.I261I	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	337					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)		CCATAGTAGAGATGTTTTTTG	0.289000													8	11					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174219	150174219	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150174219G>A	ENST00000307271.3	+	5	1923	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	450						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCGGGACTGGGAAGAGTGCG	0.552000													42	62					0	0	1	0	0
S100P	6286	broad.mit.edu	37	4	6695639	6695639	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:6695639G>A	ENST00000296370.3	+	0	844				S100P_ENST00000513778.1_3'UTR	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P						endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CCAGGAGGAAGGTGGGTCTGA	0.567000													16	24					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276734	16276734	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:16276734C>T	ENST00000205557.7	-	16	2026	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	666	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTCCCTGCCCCCACTGGACC	0.627000													21	32					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032162	197032162	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:197032162C>T	ENST00000367412.1	-	2	133	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	30	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						TTCCATTTTCCACATGAGGAA	0.313000													60	101					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129764135	129764135	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:129764135C>T	ENST00000226319.6	+	3	360	c.80C>T	c.(79-81)tCc>tTc	p.S27F	PHF17_ENST00000512960.1_Missense_Mutation_p.S27F|PHF17_ENST00000452328.2_Missense_Mutation_p.S27F|PHF17_ENST00000511647.1_Missense_Mutation_p.S27F|PHF17_ENST00000413543.2_Missense_Mutation_p.S27F	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		27					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCAGAATTCCCGATCCCAG	0.448000													10	21					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547470	228547470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:228547470G>A	ENST00000284548.11	+	81	18951	c.18877G>A	c.(18877-18879)Gaa>Aaa	p.E6293K	OBSCN_ENST00000366709.4_Missense_Mutation_p.E3412K|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7116					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)				GCCGGAGGCAGAACCAGGCCA	0.706000													3	9					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255117	30255117	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:30255117G>A	ENST00000417547.1	+	3	199	c.159_splice	c.e3-1	p.D54_splice	FSHB_ENST00000533718.1_Splice_Site_p.D54_splice|FSHB_ENST00000254122.3_Splice_Site_p.D54_splice	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	54					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AACTCCTCAGGATCTGGTGTA	0.428000													15	6					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158877	77158877	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:77158877G>A	ENST00000372524.4	-	2	2057	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P524L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CTTGTCGCACGGCCCGTTGGC	0.652000													15	25					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758782	54758782	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54758782C>T	ENST00000450632.1	-	6	1121	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	LILRB5_ENST00000345866.6_Silent_p.K257K|LILRB5_ENST00000316219.5_Silent_p.K357K|LILRB5_ENST00000449561.2_Silent_p.K357K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	357	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCCCCTCCTTGGTCAAAA	0.572000													17	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414373	179414373	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179414373G>A	ENST00000589042.1	-	338	92300	c.92076C>T	c.(92074-92076)ttC>ttT	p.F30692F	TTN_ENST00000460472.2_Silent_p.F21627F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.F29051F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.F21752F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.F28124F|TTN_ENST00000342175.6_Silent_p.F21819F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29051	Ig-like 138.						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)			CAGAAACACGGAATTGGTATT	0.413000													27	29					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161127075	161127075	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:161127075C>T	ENST00000368003.5	+	3	469	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	75					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TATCCATGACCTCCTGAAATA	0.413000													35	92					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100887879	100887879	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:100887879G>A	ENST00000358544.2	+	62	12165	c.12054G>A	c.(12052-12054)agG>agA	p.R4018R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3993R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	4018					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGCCCTGAGGAAAGGGTTTC	0.443000													20	24					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603211	47603211	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:47603211C>T	ENST00000371891.3	+	1	85	c.54C>T	c.(52-54)atC>atT	p.I18I	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.I18I|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.I18I	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	18						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCGGGATCCTCCAAGTGA	0.597000													33	45					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649793	121649793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:121649793G>A	ENST00000489711.1	+	18	2048	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.G523R	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	554					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTGCAAAGAGGAGAGTAAGT	0.393000													11	10					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102486385	102486385	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:102486385C>T	ENST00000360184.4	+	42	8663	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2833					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCGTCTCTTCCAAGATAGGT	0.557000													6	19					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135771901	135771901	+	Silent	SNP	G	G	C	rs118203747		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:135771901G>C	ENST00000298552.3	-	23	3437	c.3216C>G	c.(3214-3216)gcC>gcG	p.A1072A	TSC1_ENST00000545250.1_Silent_p.A1021A|TSC1_ENST00000440111.2_Silent_p.A1072A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1072					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGGGATGCTGGCAGACGCTT	0.562000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				33	5					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944217	50944217	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50944217G>T	ENST00000374103.4	-	22	2846	c.2761C>A	c.(2761-2763)Cca>Aca	p.P921T	OGDHL_ENST00000419399.1_Missense_Mutation_p.P864T|OGDHL_ENST00000432695.1_Missense_Mutation_p.P712T|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	921					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAGGGGAATGGAGAGATCTGG	0.597000													10	8					4.68919e-08	4.74077e-08	1	1	0
MBL2	4153	broad.mit.edu	37	10	54530438	54530438	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:54530438T>C	ENST00000373968.3	-	2	360	c.296A>G	c.(295-297)aAa>aGa	p.K99R	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	99	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACCCGGACTTTTTCCAGGGTC	0.567000													38	59					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385583	58385583	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:58385583T>A	ENST00000435989.2	-	3	1409	c.1175A>T	c.(1174-1176)tAt>tTt	p.Y392F	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	392					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GAAGCTAGCATATTTGCTAAA	0.368000													3	5					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302002	128302002	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:128302002G>A	ENST00000262462.4	+	1	1182	c.172G>A	c.(172-174)Gat>Aat	p.D58N	SLC27A6_ENST00000506176.1_Missense_Mutation_p.D58N|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D58N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	58					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACTGTGCTGGATAAATTCTT	0.448000													27	22					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373091	86373091	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:86373091C>T	ENST00000604798.1	-	8	2617	c.1413G>A	c.(1411-1413)agG>agA	p.R471R	MGAT4C_ENST00000393205.2_Silent_p.R500R|MGAT4C_ENST00000552808.2_Silent_p.R471R|MGAT4C_ENST00000549405.2_Silent_p.R471R|MGAT4C_ENST00000548651.1_Silent_p.R471R|MGAT4C_ENST00000332156.1_Silent_p.R471R			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	471					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTAATACTCCTAATAATTA	0.343000													6	18					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740386	32740386	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:32740386G>A	ENST00000333070.4	+	3	254	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	LCK_ENST00000336890.5_Missense_Mutation_p.E52K|LCK_ENST00000373564.3_Missense_Mutation_p.E52K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	52	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGTTACCTACGAAGGCTCCAA	0.612000			T	TRB@	T-ALL								14	26					0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842987	35842987	+	Missense_Mutation	SNP	C	C	T	rs143187042		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:35842987C>T	ENST00000246553.2	+	1	543	c.533C>T	c.(532-534)tCt>tTt	p.S178F		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	178					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GACCCGGCCTCTGCCGGCCCG	0.677000													19	17					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767678	105767678	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:105767678T>G	ENST00000374798.3	+	5	835	c.765T>G	c.(763-765)gaT>gaG	p.D255E	CYLC2_ENST00000487798.1_Missense_Mutation_p.D255E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	255	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)				ACAAAGGTGATGAATCGAAGG	0.383000													17	0					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054489	76054489	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:76054489G>A	ENST00000336517.4	+	2	401	c.55G>A	c.(55-57)Gac>Aac	p.D19N	ZP3_ENST00000394857.3_Missense_Mutation_p.D70N	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	70					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CAGGGCTGCTGACCTCACCTT	0.577000													22	29					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967944	49967944	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:49967944C>T	ENST00000293350.4	+	12	1656	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.S333F|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S447F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.S335F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	498							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCCTGCCTCTCCAAGAACCTG	0.632000													94	126					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072945	125072945	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:125072945G>A	ENST00000522917.1	+	24	3348	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1048K|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1048	C2 4.					integral to membrane		p.E1048K(1)		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)			AGACGCTTTCGAAGTGGTGCG	0.517000													19	26					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38167344	38167344	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38167344G>A	ENST00000333167.8	-	10	1198	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	ACAA1_ENST00000301810.7_Silent_p.F249F|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Silent_p.F301F	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	342					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	p.F342F(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATTGATCTCGAAGATGTCCA	0.602000													42	63					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576419	158576419	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:158576419C>T	ENST00000361284.1	+	1	191	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	64					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)					CTCTTCCTTTCCTTCCTATCC	0.517000													75	145					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113220765	113220765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:113220765C>T	ENST00000401783.2	-	20	3898	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1188K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1165K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1188					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCTGATTTCATGCCTCTTT	0.398000													10	0					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186647530	186647530	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:186647530G>A	ENST00000367468.5	-	4	456	c.320C>T	c.(319-321)tCa>tTa	p.S107L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	107					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)	AATCAAATGTGATCTGGCTGA	0.353000													14	21					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194505	169194505	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:169194505C>T	ENST00000393743.3	-	18	2790	c.2499G>A	c.(2497-2499)acG>acA	p.T833T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	833	Helicase ATP-binding.						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)		GCAGATTTTTCGTAAAACGAT	0.383000													10	20					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666588	50666588	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:50666588G>A	ENST00000371824.1	+	7	1096	c.839G>A	c.(838-840)gGa>gAa	p.G280E	ELAVL4_ENST00000371819.1_Missense_Mutation_p.G285E|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G294E|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G283E|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G280E|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G297E|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G299E			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	294					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGTCACACAGGAACTGGGTGG	0.537000													33	32					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38065923	38065923	+	Translation_Start_Site	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38065923A>G	ENST00000463876.1	-	1	355	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PLCD1_ENST00000334661.4_Intron	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	0					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGGCACTGCATGGCCCTCCA	0.687000													6	8					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35710651	35710651	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:35710651G>A	ENST00000314888.9	-	33	4586	c.4233C>T	c.(4231-4233)tcC>tcT	p.S1411S	TLN1_ENST00000540444.1_Silent_p.S1411S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1411	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCATTTTGGGAGATGCCAG	0.552000													27	2					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855306	79855306	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79855306T>C	ENST00000338682.3	-	5	1205	c.533A>G	c.(532-534)cAt>cGt	p.H178R		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	178						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGCTGGGGAATGACACCCATC	0.443000													38	54					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222920008	222920008	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:222920008G>A	ENST00000445590.2	+	3	387	c.121G>A	c.(121-123)Gag>Aag	p.E41K	FAM177B_ENST00000360827.2_Missense_Mutation_p.E41K	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	41	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TAGCACAgaggaggaggagga	0.443000													7	29					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666631	50666631	+	Silent	SNP	C	C	T	rs138724011		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:50666631C>T	ENST00000371824.1	+	7	1139	c.882C>T	c.(880-882)tcC>tcT	p.S294S	ELAVL4_ENST00000371819.1_Silent_p.S299S|ELAVL4_ENST00000371823.4_Silent_p.S308S|ELAVL4_ENST00000448907.2_Silent_p.S297S|ELAVL4_ENST00000371827.1_Silent_p.S294S|ELAVL4_ENST00000357083.4_Silent_p.S311S|ELAVL4_ENST00000371821.1_Silent_p.S313S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	308					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.S311S(1)|p.S308S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CCCCCGATTCCGATGAGAGTG	0.502000													31	29					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776018	144776018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:144776018C>T	ENST00000532205.1	+	8	1333	c.434C>T	c.(433-435)cCc>cTc	p.P145L	ZNF707_ENST00000358656.4_Missense_Mutation_p.P145L|ZNF707_ENST00000418203.2_Missense_Mutation_p.P145L|ZNF707_ENST00000454097.1_Missense_Mutation_p.P145L|ZNF707_ENST00000532158.1_Missense_Mutation_p.P145L			Q96C28	ZN707_HUMAN	zinc finger protein 707	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACGCCAAGCCCACGGCTTTC	0.637000													13	18					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335167	192335167	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:192335167C>T	ENST00000417209.2	+	5	546	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	124	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AGGATTCTTTCCCTCGATTTC	0.373000													30	31					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98865158	98865158	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:98865158C>T	ENST00000295268.3	-	8	1023	c.933_splice	c.e8-1	p.E312_splice		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TGCCAAAATTCCTGTTGAAAG	0.323000													18	42					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647489	38647489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38647489C>T	ENST00000413689.1	-	10	1484	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SCN5A_ENST00000449557.2_Missense_Mutation_p.E431K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E431K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E431K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E431K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E431K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E431K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E431K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E431K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E431K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	431					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.E431K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAGCGCTTTTCCTTCTCCTCG	0.572000													27	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486229	179486229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179486229G>A	ENST00000589042.1	-	245	45546	c.45322C>T	c.(45322-45324)Cga>Tga	p.R15108*	TTN_ENST00000460472.2_Nonsense_Mutation_p.R6043*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R13467*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R6168*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R12540*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R6235*|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13467							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)			CCATCGGTTCGAGAGCTTGGG	0.393000													19	20					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21615726	21615726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:21615726C>T	ENST00000538582.1	+	10	1586	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PYROXD1_ENST00000240651.9_Missense_Mutation_p.S349F			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	349							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATGCACACATCCCTTCCTGAT	0.418000													14	18					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811305	7811305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:7811305G>A	ENST00000303635.7	+	20	4943	c.4736G>A	c.(4735-4737)aGc>aAc	p.S1579N	CAMTA1_ENST00000476864.1_Missense_Mutation_p.S143N|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1565N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1579	IQ 2.				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)		CTTATCCAGAGCAAATTCCGA	0.458000			T	WWTR1	epitheliod hemangioendothelioma								92	142					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56604277	56604277	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:56604277G>A	ENST00000426861.1	-	2	152	c.66C>T	c.(64-66)ttC>ttT	p.F22F	SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000412945.3_Silent_p.F33F|SEPT4_ENST00000317256.6_Silent_p.F22F|SEPT4_ENST00000317268.3_Silent_p.F41F|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000393086.1_Silent_p.F22F|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_Silent_p.F56F|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	41					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTTCCTGAGAAATCCTTCA	0.592000													38	52					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43559041	43559041	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:43559041G>T	ENST00000220420.5	-	1	14	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K	TGM5_ENST00000349114.4_Missense_Mutation_p.Q3K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	3					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCCCTACCTTGGGCCATGGTA	0.562000													18	3					4.54149e-19	4.61451e-19	1	1	0
PROX2	283571	broad.mit.edu	37	14	75329259	75329259	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:75329259C>T	ENST00000556489.2	-	1	1278	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	PROX2_ENST00000445876.1_Missense_Mutation_p.E427K|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	427					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGCAGTGCCTCCATGACAGCA	0.512000													29	30					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023476	67023476	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:67023476G>A	ENST00000340001.4	-	14	2117	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P636S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P636S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	636	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTACTTGAGGATCTCCTAAA	0.299000													7	7					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851628	134851628	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:134851628C>T	ENST00000398015.3	+	5	1404	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	345	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGCACCCTCCAAGGGAGACA	0.572000													13	9					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16734623	16734623	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:16734623C>T	ENST00000433922.2	+	8	994	c.816C>T	c.(814-816)atC>atT	p.I272I	BZW2_ENST00000407633.1_Silent_p.I78I|BZW2_ENST00000258761.3_Silent_p.I272I|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Silent_p.I196I	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	272	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AATGCCCGATCAAGGAGGTGG	0.527000													34	24					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904031	5904031	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:5904031G>A	ENST00000378961.4	+	4	1445	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	414						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTTGAGCCGGGAAAGGGACGC	0.532000													56	49					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679898	27679898	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:27679898C>T	ENST00000525528.1	-	1	1307	c.214G>A	c.(214-216)Gat>Aat	p.D72N	BDNF_ENST00000395978.3_Missense_Mutation_p.D72N|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.D87N|BDNF_ENST00000356660.4_Missense_Mutation_p.D72N|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.D80N|BDNF_ENST00000418212.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.D72N|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.D72N|BDNF_ENST00000438929.1_Missense_Mutation_p.D154N|BDNF_ENST00000395981.3_Missense_Mutation_p.D72N|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000439476.2_Missense_Mutation_p.D72N|BDNF_ENST00000420794.1_Missense_Mutation_p.D72N|BDNF_ENST00000533246.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.D72N|BDNF_ENST00000525950.1_Missense_Mutation_p.D72N	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	72						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TGGTCCTCATCCAACAGCTCT	0.517000													83	10					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615746	207615746	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:207615746G>A	ENST00000374412.3	-	6	1239	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.L322L|MDH1B_ENST00000449792.1_Silent_p.L224L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	322					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTTTTTCTCAGATCAACGTAA	0.323000													18	26					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603275	111603275	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:111603275C>T	ENST00000431670.2	+	2	762	c.351C>T	c.(349-351)tcC>tcT	p.S117S	PHLDB2_ENST00000412622.1_Silent_p.S117S|PHLDB2_ENST00000478922.1_Silent_p.S117S|PHLDB2_ENST00000481953.1_Silent_p.S117S|PHLDB2_ENST00000393923.3_Silent_p.S144S|PHLDB2_ENST00000393925.3_Silent_p.S117S|PHLDB2_ENST00000477695.1_Silent_p.S117S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	117						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTACATCCTCCCTCAGTGGAT	0.453000													94	146					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609762	32609762	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:32609762C>T	ENST00000343139.5	+	3	447	c.345C>T	c.(343-345)gtC>gtT	p.V115V	HLA-DQA1_ENST00000395363.1_Silent_p.V115V|HLA-DQA1_ENST00000374949.2_Silent_p.V115V	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	114	Alpha-1.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTCCTGAGGTCACAGTGTTTT	0.512000													25	17					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887657	3887657	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:3887657C>T	ENST00000319331.3	+	2	2093	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	444	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CGACGGTTTTCCTAGACTGTC	0.448000													18	19					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805005	27805005	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:27805005C>T	ENST00000408964.2	+	1	5617	c.5566C>T	c.(5566-5568)Ccc>Tcc	p.P1856S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1856	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCACCTCAGTCCCTTGGAAAG	0.547000													23	47					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034711	43034711	+	Silent	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43034711A>G	ENST00000316099.3	+	2	218	c.129A>G	c.(127-129)tcA>tcG	p.S43S	HNF4A_ENST00000457232.1_Silent_p.S21S|HNF4A_ENST00000415691.1_Silent_p.S43S|HNF4A_ENST00000443598.2_Silent_p.S43S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	43					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTCCCCATCAGAAGGCACCA	0.622000													83	198					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516462	1516462	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:1516462G>A	ENST00000389470.4	-	37	5627	c.5628C>T	c.(5626-5628)atC>atT	p.I1876I	INTS1_ENST00000404767.3_Silent_p.I1677I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1677	Poly-Leu.				snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAGGACTCGGATGCACTGGT	0.657000													13	14					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160263246	160263246	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:160263246G>A	ENST00000241704.7	-	26	2913	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	COPA_ENST00000368069.3_Missense_Mutation_p.S904F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	895					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCCCAGGGGATATATCCTA	0.473000													5	11					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468450	52468450	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:52468450T>C	ENST00000243644.4	-	5	1483	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	419					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCTCTTATGCTTAACCAGACA	0.473000													28	23					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59908129	59908129	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:59908129G>A	ENST00000468189.1	-	8	661	c.291C>T	c.(289-291)gtC>gtT	p.V97V	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Silent_p.V97V|FHIT_ENST00000492590.1_Silent_p.V97V|FHIT_ENST00000341848.4_Silent_p.V97V			P49789	FHIT_HUMAN	fragile histidine triad	97	Binding to substrate; phosphate linker.|HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GAAGAACATGGACGTGAACGT	0.423000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				22	19					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236620	140236620	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140236620G>A	ENST00000307360.5	+	1	987	c.987G>A	c.(985-987)atG>atA	p.M329I	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.M329I|PCDHA9_ENST00000532602.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACCTATGGTTGGTCACT	0.408000													24	30					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69948661	69948661	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:69948661G>A	ENST00000358913.5	+	13	3191		c.e13-1		MYPN_ENST00000354393.2_Splice_Site|MYPN_ENST00000540630.1_Splice_Site	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin							nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATTTTGACAGGAGTACAAAA	0.373000													10	10					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88945680	88945680	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:88945680C>T	ENST00000268679.4	-	11	2056	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E478K|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E516K|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E468K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E468K	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	554					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E554K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCCCTACCTCGCTGGAGTCC	0.697000			T	RUNX1	AML								30	33					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141201963	141201963	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:141201963G>A	ENST00000389484.3	-	65	11201	c.10230C>T	c.(10228-10230)atC>atT	p.I3410I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3410	LDL-receptor class A 23.				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)		AGTTTACTGGGATACATTTCT	0.393000										TSP Lung(27;0.18)			24	24					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148166	34148166	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:34148166G>A	ENST00000346193.3	-	1	2281	c.2230C>T	c.(2230-2232)Cta>Tta	p.L744L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	744										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						CCCTTGCTTAGAATGAAATCC	0.423000													20	3					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909394	123909394	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:123909394G>A	ENST00000330487.5	-	1	323	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGCTCCCCAGGAAGTGGAAAA	0.547000													91	35					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822129	93822129	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:93822129G>A	ENST00000315765.9	+	12	2297	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	763	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACGCAAGAGGGGAAAGGTACC	0.532000													31	7					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629554	9629554	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:9629554C>T	ENST00000382492.2	-	1	909	c.591G>A	c.(589-591)ttG>ttA	p.L197L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	197					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGAGAAAATCAAGAGCAAAA	0.488000													16	25					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143482	103143482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:103143482G>A	ENST00000424685.2	-	52	8629	c.8470C>T	c.(8470-8472)Cct>Tct	p.P2824S	RELN_ENST00000343529.5_Missense_Mutation_p.P2824S|RELN_ENST00000428762.1_Missense_Mutation_p.P2824S|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2824					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGCTTTCAGGAAGTGGGTAG	0.448000													14	28					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196083597	196083597	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:196083597G>A	ENST00000296328.4	-	11	1503	c.1429C>T	c.(1429-1431)Ctt>Ttt	p.L477F	UBXN7_ENST00000535858.1_Missense_Mutation_p.L329F|UBXN7_ENST00000428095.1_Missense_Mutation_p.L315F	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	477	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGAGGACAAAGGCCTGCCTCT	0.413000													22	27					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275983	113275983	+	Silent	SNP	G	G	A	rs61754530		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:113275983G>A	ENST00000297405.5	-	61	9991	c.9747C>T	c.(9745-9747)ttC>ttT	p.F3249F	CSMD3_ENST00000352409.3_Silent_p.F3179F|CSMD3_ENST00000343508.3_Silent_p.F3209F|CSMD3_ENST00000455883.2_Silent_p.F3080F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3249	Sushi 25.					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						AGCCCCAGTCGAAATTTGTTC	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	19					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578650	58578650	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:58578650G>A	ENST00000506786.1	+	5	1226	c.672G>A	c.(670-672)ggG>ggA	p.G224G	ZNF135_ENST00000359978.6_Silent_p.G278G|ZNF135_ENST00000511556.1_Silent_p.G278G|ZNF135_ENST00000401053.4_Silent_p.G290G|ZNF135_ENST00000439855.2_Silent_p.G266G|ZNF135_ENST00000313434.5_Silent_p.G266G			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	278					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCCATACTGGGGAGAAACCCT	0.502000													42	46					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41727078	41727078	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:41727078G>A	ENST00000301178.4	+	3	526	c.336G>A	c.(334-336)acG>acA	p.T112T	AXL_ENST00000359092.3_Silent_p.T112T|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	112	Ig-like C2-type 1.		T -> M (in dbSNP:rs35202236).			integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTTCCGACACGGGACAGTACC	0.592000													17	17					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185029	24185029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:24185029G>A	ENST00000396671.2	-	8	1049	c.701C>T	c.(700-702)gCc>gTc	p.A234V	THRB_ENST00000356447.4_Missense_Mutation_p.A234V|THRB_ENST00000416420.1_Missense_Mutation_p.A234V|THRB_ENST00000280696.5_Missense_Mutation_p.A249V	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	234			A -> T (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTGCCTTGGGCGTTGGTCGC	0.512000													35	41					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912607	77912607	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:77912607G>A	ENST00000321110.1	-	2	1606	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	437							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGTGCCAACGGACCCATTCAG	0.547000													20	1					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671193	131671193	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:131671193C>T	ENST00000259324.5	+	3	2273	c.1750C>T	c.(1750-1752)Ctc>Ttc	p.L584F	LRRC8A_ENST00000372600.4_Missense_Mutation_p.L584F|LRRC8A_ENST00000372599.3_Missense_Mutation_p.L584F	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	584					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCTCATCGTCCTCAACAGCCT	0.572000													45	2					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269321	37269321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:37269321G>A	ENST00000315190.3	+	2	552	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	36						integral to membrane											CCCATCCTCAGGCCACCTGTC	0.468000													49	61					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564747	84564747	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:84564747G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TTAAGGGGAAGATATTGTGTC	0.498000													9	2					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999404	72999404	+	Missense_Mutation	SNP	C	C	G	rs111787453	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:72999404C>G	ENST00000322038.5	+	2	2491	c.1907C>G	c.(1906-1908)cCg>cGg	p.P636R	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P681R	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	681						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAAGATTTCCCGAAAACGGAG	0.557000													19	25					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849256	110849256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:110849256G>A	ENST00000272462.2	-	2	970	c.197C>T	c.(196-198)tCg>tTg	p.S66L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	66	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GATGAGAAACGAGGTGAGCGA	0.458000													13	37					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430369	149430369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:149430369C>T	ENST00000255992.10	+	18	2722	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S	KRBA1_ENST00000485033.2_Missense_Mutation_p.P715S|KRBA1_ENST00000319551.8_Missense_Mutation_p.P715S|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	776	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTGCCCCCTCCGGAAGC	0.682000													84	82					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404411	20404411	+	Missense_Mutation	SNP	G	G	A	rs149331048		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20404411G>A	ENST00000285600.4	+	1	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448000													25	61					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117647515	117647515	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:117647515G>A	ENST00000368508.3	-	33	5627	c.5429C>T	c.(5428-5430)tCc>tTc	p.S1810F	ROS1_ENST00000368507.3_Missense_Mutation_p.S1804F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1810	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S1810F(1)	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)		ACTACTGCAGGATCCATTAAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	9					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695241	114695241	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:114695241C>T	ENST00000374279.3	+	9	1599	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	383					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ACAGATTACGCTGTGGGGGTA	0.378000													32	3					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577553	162577553	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:162577553C>T	ENST00000306100.5	-	7	1257	c.821G>A	c.(820-822)gGa>gAa	p.G274E	FSTL5_ENST00000379164.4_Missense_Mutation_p.G273E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G273E|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.G273E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	274	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCAGGGTTCCTTGAATGGC	0.383000													13	20					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266586	107266586	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:107266586C>T	ENST00000334726.2	+	1	132	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTTTCTTCCTGGGATTTTT	0.388000													35	10					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082311	16082311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:16082311C>T	ENST00000281043.3	+	2	422	c.125C>T	c.(124-126)tCg>tTg	p.S42L	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	42					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGCCCCGACTCGACCCCCCCG	0.652000			A		neuroblastoma								12	28					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536375	74536375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:74536375C>T	ENST00000321288.5	+	4	680	c.680C>T	c.(679-681)cCt>cTt	p.P227L	CCDC33_ENST00000398814.3_Missense_Mutation_p.P24L			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	227	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCACGGAACCTGAGATCGGT	0.567000													39	46					0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72582467	72582467	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:72582467C>T	ENST00000287202.5	-	4	778		c.e4+1		RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Splice_Site|CELF6_ENST00000543764.2_Splice_Site|CELF6_ENST00000567083.1_Splice_Site|CELF6_ENST00000539635.1_Splice_Site|CELF6_ENST00000569311.1_Splice_Site	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6						mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GCTCAGGTCACCTTTACTGGT	0.627000													17	15					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320372	7320372	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:7320372C>T	ENST00000302926.2	+	7	1835	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C	NLGN2_ENST00000575301.1_Missense_Mutation_p.R588C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	588					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCTGAAGCCACGCGTGCGTGA	0.582000													6	8					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913665	28913665	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:28913665C>T	ENST00000257192.4	+	7	1010	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	266	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGATAATATCCCTTACATGG	0.393000													10	26					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173466	5173466	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:5173466G>A	ENST00000380367.1	-	2	551	c.134C>T	c.(133-135)tCc>tTc	p.S45F	OR52A1_ENST00000328942.1_Missense_Mutation_p.S45F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	45					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGCAAGGAATTTCCAAT	0.468000													26	2					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926203	1926203	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:1926203C>T	ENST00000399161.2	-	10	2085	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	MYT1L_ENST00000428368.2_Silent_p.K446K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	446					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCTCATGGCCTTTGCTCTTT	0.547000													43	47					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2985562	2985562	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:2985562C>T	ENST00000396946.4	-	4	652	c.249G>A	c.(247-249)aaG>aaA	p.K83K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	83	CARD.				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)		CCCTTTGCCCCTTGGTATGTA	0.488000			Mis		DLBCL								90	124					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890233	139890233	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139890233G>A	ENST00000303045.6	-	3	864	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	COL22A1_ENST00000435777.1_Missense_Mutation_p.R140C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	140	VWFA.				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)			TTGTAGGCGCGGTCCCTGGGG	0.726000										HNSCC(7;0.00092)			3	3					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619460	141619460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:141619460C>T	ENST00000548136.1	+	1	844	c.785C>T	c.(784-786)cCc>cTc	p.P262L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TACGTGAAACCCAAGCAAACG	0.498000													42	36					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412939	43412939	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:43412939G>A	ENST00000310826.5	-	3	1449	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.S422S|ZBTB21_ENST00000398511.3_Silent_p.S422S|ZBTB21_ENST00000398505.3_Silent_p.S422S	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CAGTCACAGGGGAAGCTCCCT	0.572000													14	18					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593428	137593428	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:137593428C>T	ENST00000274721.3	-	4	931	c.685G>A	c.(685-687)Gag>Aag	p.E229K	GFRA3_ENST00000378362.3_Missense_Mutation_p.E198K	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	229					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCCGGCGCTCCCCGCAGCCC	0.711000													33	23					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371051	33371051	+	Missense_Mutation	SNP	C	C	T	rs141493785	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:33371051C>T	ENST00000270112.2	+	11	2059	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	567					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCTGTGGATCGCGACGACCA	0.602000													8	18					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764013	77764013	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:77764013C>G	ENST00000521891.2	+	10	5304	c.4856C>G	c.(4855-4857)aCa>aGa	p.T1619R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1574R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1574R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1593R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1574						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)			CTCCACCAGACAAAGGCTAGG	0.517000										HNSCC(33;0.089)			18	20					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249460	43249460	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:43249460C>T	ENST00000255226.6	+	16	3042	c.2226C>T	c.(2224-2226)ccC>ccT	p.P742P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.P219P|SLC14A2_ENST00000586448.1_Silent_p.P742P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	742						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCAAGTGCCCTTGGTACGTA	0.517000													34	43					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20710962	20710962	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:20710962C>T	ENST00000315409.2	+	1	65	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TGTCTTTCTTCTTTGTAGACT	0.423000													15	18					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114057	56114057	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:56114057C>G	ENST00000279783.2	+	1	637	c.543C>G	c.(541-543)agC>agG	p.S181R		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACATAATCAGCTATTTTTACT	0.358000										HNSCC(65;0.19)			66	7					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65394966	65394966	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:65394966C>A	ENST00000355703.3	+	22	4154	c.3615C>A	c.(3613-3615)ttC>ttA	p.F1205L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1205						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGTTGGCCTTCACCGTCCTGC	0.617000													96	8					3.79737e-34	3.88185e-34	1	1	0
CAD	790	broad.mit.edu	37	2	27457493	27457493	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:27457493C>T	ENST00000264705.4	+	23	3888	c.3726C>T	c.(3724-3726)atC>atT	p.I1242I	CAD_ENST00000403525.1_Silent_p.I1179I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1242	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGCGGGTCATCATGGGGGAAG	0.507000													31	28					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756761	54756761	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54756761G>A	ENST00000450632.1	-	9	1497	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	LILRB5_ENST00000345866.6_Missense_Mutation_p.R383W|LILRB5_ENST00000316219.5_Missense_Mutation_p.R482W|LILRB5_ENST00000449561.2_Missense_Mutation_p.R483W			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	482					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTGATGCCGATGTCggagg	0.627000													36	51					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:19995558G>A	ENST00000391403.2	-	1	2320	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000													9	16					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212587206	212587206	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:212587206G>A	ENST00000342788.4	-	7	1105	c.795C>T	c.(793-795)acC>acT	p.T265T	ERBB4_ENST00000402597.1_Silent_p.T265T|ERBB4_ENST00000436443.1_Silent_p.T265T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	265	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTAGACAAAGGTTTGGGGAC	0.383000										TSP Lung(8;0.080)			13	19					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38857459	38857459	+	Silent	SNP	G	G	A	rs150900239		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:38857459G>A	ENST00000310301.4	-	7	462	c.408C>T	c.(406-408)ttC>ttT	p.F136F	VPS41_ENST00000395969.2_Silent_p.F111F	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	136					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.F136F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGATCTCACGAAATGTGGGT	0.468000													44	46					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519884	69519884	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:69519884G>A	ENST00000338206.5	-	5	1193	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	395					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CGCAAACAAGGGAATGCCCAC	0.463000													39	86					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29587415	29587415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:29587415C>T	ENST00000358273.4	+	34	4842	c.4459C>T	c.(4459-4461)Cct>Tct	p.P1487S	NF1_ENST00000356175.3_Missense_Mutation_p.P1466S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1487					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)		ATCTGATTGTCCTACAAGTGA	0.353000			"""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)			30	38					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900668	151900668	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:151900668G>A	ENST00000393900.3	-	3	486	c.133C>T	c.(133-135)Cta>Tta	p.L45L	MAGEA12_ENST00000357916.4_Silent_p.L45L|MAGEA12_ENST00000393869.3_Silent_p.L45L|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	45										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCCACTAGAGTAGAGGAG	0.632000													21	3					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860910	52860910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:52860910G>A	ENST00000343457.3	-	4	2284	c.2278C>T	c.(2278-2280)Caa>Taa	p.Q760*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	760						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						GGAATTGTTTGGAAGGTAACA	0.478000													28	29					0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152487912	152487912	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152487912C>T	ENST00000368790.3	+	2	126	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	18										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGGGGTCGTCCCAGGGcccc	0.692000													19	16					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190182	58190182	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:58190182G>A	ENST00000302581.2	-	1	604	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAAGACAGAGCCATGACT	0.378000													26	3					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108564	141108564	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:141108564G>A	ENST00000389484.3	-	77	12665	c.11694C>T	c.(11692-11694)atC>atT	p.I3898I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3898					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)		TAAAACCCAGGATATCAGTGT	0.289000										TSP Lung(27;0.18)			22	36					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123332506	123332506	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:123332506G>A	ENST00000296513.2	+	9	1163	c.978G>A	c.(976-978)atG>atA	p.M326I	ADAD1_ENST00000388725.2_Missense_Mutation_p.M308I|ADAD1_ENST00000388724.2_Missense_Mutation_p.M315I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	326	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCCTTTACATGAACCAGTTGC	0.348000													18	28					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225634	9225634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9225634C>T	ENST00000293614.1	-	1	805	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	OR7G1_ENST00000541538.1_Missense_Mutation_p.R269Q			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGCAGTAATTCGGGAAGACTC	0.458000													20	32					0	0	1	0	0
ATP6V1G2-DDX39B	100532737	broad.mit.edu	37	6	31513937	31513937	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:31513937C>T	ENST00000376185.1	-	2	154	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ATP6V1G2_ENST00000303892.5_Silent_p.V44V|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000483251.1_Silent_p.V3V|ATP6V1G2_ENST00000376151.4_Intron																							GGTATTGCTCCACCTCCATCT	0.592000													20	53					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95167013	95167013	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:95167013C>T	ENST00000325885.5	+	5	1294	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	408	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTTTGCTTTCCCTCCCATTG	0.408000													48	47					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	49					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6329956	6329956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:6329956C>T	ENST00000381129.3	-	5	843	c.763G>A	c.(763-765)Gat>Aat	p.D255N	AIPL1_ENST00000570466.1_Missense_Mutation_p.D233N|AIPL1_ENST00000575265.1_Missense_Mutation_p.D255N|AIPL1_ENST00000250087.5_Missense_Mutation_p.D192N|AIPL1_ENST00000576776.1_Missense_Mutation_p.D231N|AIPL1_ENST00000576307.1_Missense_Mutation_p.D195N|AIPL1_ENST00000574506.1_Missense_Mutation_p.D243N|AIPL1_ENST00000571740.1_Missense_Mutation_p.D247N	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	255					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CGGAGAATATCACTGGTGTGC	0.607000													18	19					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968803	119968803	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:119968803C>T	ENST00000327554.2	+	13	1951	c.1486C>T	c.(1486-1488)Ctg>Ttg	p.L496L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	496										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCATGTCCTCCTGAAGGTGCT	0.527000													22	20					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685768	51685768	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:51685768C>T	ENST00000267012.4	-	10	1183	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	BIN2_ENST00000452142.2_Silent_p.L342L|BIN2_ENST00000604560.1_Silent_p.L347L|BIN2_ENST00000544402.1_Silent_p.L348L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	374						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTGAAGGGCTCAGGGCTCCGC	0.597000													19	25					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29797013	29797013	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:29797013C>T	ENST00000269202.6	+	13	1866	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F	MEP1B_ENST00000581447.1_Missense_Mutation_p.L607F	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	607	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTTCAAGACCTCTGCTCAAA	0.453000													26	23					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336154	124336154	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:124336154G>A	ENST00000368909.3	+	7	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K|DMBT1_ENST00000338354.3_Missense_Mutation_p.E175K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	175	SRCR 1.				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)				CTCAGGACACGAATCCTACCT	0.582000													47	46					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222222	53222222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:53222222G>A	ENST00000375401.3	-	26	5142	c.4610C>T	c.(4609-4611)tCg>tTg	p.S1537L	KDM5C_ENST00000375379.3_Missense_Mutation_p.S1534L|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1493L|KDM5C_ENST00000404049.3_Missense_Mutation_p.S1536L	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1537					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAAAGGGGCCGAGGGGCCTGA	0.662000			"""N, F, S"""		clear cell renal carcinoma								11	0					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134477499	134477499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:134477499G>A	ENST00000372195.1	-	12	2186	c.1943C>T	c.(1942-1944)cCc>cTc	p.P648L	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P649L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P631L			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	631					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GACCGCTGAGGGATCTCTGGG	0.652000													10	3					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175110	133175110	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:133175110G>A	ENST00000329321.3	+	1	964	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	165						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCGCCCTGGTGGCACTGC	0.627000													20	20					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724423	139724423	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:139724423G>A	ENST00000263549.3	-	12	2916	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	681	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCGAGGGCTTGGAGGAGGTGG	0.567000													25	42					0	0	1	0	0
IGLV3-21	28796	broad.mit.edu	37	22	23055644	23055644	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:23055644G>A	ENST00000390308.2	+	0	558																											GGATGAGGCCGACTATTACTG	0.587000													5	13					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997465	115997465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:115997465G>A	ENST00000264363.2	-	2	1406	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	243	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGATGACAGGGATTTTTCTGT	0.423000													33	36					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67014668	67014668	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:67014668A>T	ENST00000340001.4	-	20	2864	c.2653T>A	c.(2653-2655)Tac>Aac	p.Y885N	ABCA9_ENST00000453985.2_Missense_Mutation_p.Y885N|ABCA9_ENST00000370732.2_Missense_Mutation_p.Y885N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	885					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATGACTCGTAGAATAGATGT	0.368000													89	105					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60821803	60821803	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:60821803C>T	ENST00000544856.2	-	6	844	c.466G>A	c.(466-468)Gca>Aca	p.A156T	MARCH10_ENST00000311269.5_Missense_Mutation_p.A157T|MARCH10_ENST00000456609.2_Missense_Mutation_p.A157T|MARCH10_ENST00000583600.1_Missense_Mutation_p.A195T			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	157							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCCCCAGATGCTCTCGGGCTG	0.537000													38	49					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329260	75329260	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:75329260C>T	ENST00000556489.2	-	1	1277	c.1278G>A	c.(1276-1278)atG>atA	p.M426I	PROX2_ENST00000445876.1_Missense_Mutation_p.M426I|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	426					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCAGTGCCTCCATGACAGCAT	0.517000													29	31					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805006	27805006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:27805006C>T	ENST00000408964.2	+	1	5618	c.5567C>T	c.(5566-5568)cCc>cTc	p.P1856L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1856	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.S1873Y(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACCTCAGTCCCTTGGAAAGA	0.552000													24	46					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004462	248004462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:248004462G>A	ENST00000355784.2	-	1	792	c.737C>T	c.(736-738)gCt>gTt	p.A246V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTGACAACAGCCAGGTGGGA	0.498000													14	40					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48189006	48189006	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:48189006G>A	ENST00000080059.7	-	11	1244	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	HDAC7_ENST00000552960.1_Silent_p.P398P|HDAC7_ENST00000427332.2_Silent_p.P376P|HDAC7_ENST00000380610.4_Silent_p.P432P|HDAC7_ENST00000354334.3_Silent_p.P378P	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	376	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|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			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCTCCAGGCGGGGCTGCATGG	0.647000													54	66					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976883	46976883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:46976883G>A	ENST00000371956.4	+	3	640	c.625G>A	c.(625-627)Gac>Aac	p.D209N	DMBX1_ENST00000360032.3_Missense_Mutation_p.D204N	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	209					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGCTGAGGACCCCAAAGC	0.662000													9	14					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90046367	90046367	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:90046367G>A	ENST00000405460.2	+	53	11070		c.e53-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						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)		TATTTTTTCAGAATTCATTAT	0.363000													24	37					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572091	79572091	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:79572091G>A	ENST00000372391.2	-	21	4075	c.4070C>T	c.(4069-4071)tCa>tTa	p.S1357L	DLG5_ENST00000372388.2_Missense_Mutation_p.S1017L|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1357	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGCGGCTCTGAGCCCTTCTG	0.577000													16	21					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188225440	188225440	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:188225440C>T	ENST00000409998.1	-	11	1447	c.666G>A	c.(664-666)ctG>ctA	p.L222L	CALCRL_ENST00000410068.1_Silent_p.L222L|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.L222L|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	222						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TACAGCCCATCAGGTAAAGAT	0.378000													13	19					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100013501	100013501	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:100013501C>T	ENST00000260702.3	-	11	1794	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	548	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCGGTCCTCCAAGTAGGCCG	0.627000													16	17					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:168105217G>A	ENST00000409195.1	+	9	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000													31	36					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398253	89398253	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:89398253C>T	ENST00000439576.2	+	12	2811	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	ACAN_ENST00000352105.7_Missense_Mutation_p.P813S|ACAN_ENST00000559004.1_Missense_Mutation_p.P813S|ACAN_ENST00000561243.1_Missense_Mutation_p.P813S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	813					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCATTCCCCTCAGTGGA	0.607000													4	7					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000													23	43					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76191779	76191779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:76191779C>T	ENST00000267938.4	+	13	1490	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	UBE2Q2_ENST00000561851.1_Missense_Mutation_p.P354S|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.P299L|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.P335S	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	370					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CTGGTACACCCCTCCAAAGGA	0.328000													11	11					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975921	152975921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152975921C>T	ENST00000331860.3	+	3	575	c.425C>T	c.(424-426)cCt>cTt	p.P142L	SPRR3_ENST00000542696.1_Missense_Mutation_p.P134L|SPRR3_ENST00000295367.4_Missense_Mutation_p.P142L	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	142	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAAAGTTCCTGTGCCAGGC	0.527000													27	19					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363326	17363326	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:17363326T>A	ENST00000377602.4	-	8	822	c.748A>T	c.(748-750)Aaa>Taa	p.K250*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	250					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGGGCTTTTTTTTCCTTTAAG	0.348000													10	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434308	179434308	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179434308C>T	ENST00000589042.1	-	326	76775	c.76551G>A	c.(76549-76551)agG>agA	p.R25517R	TTN_ENST00000460472.2_Silent_p.R16452R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.R23876R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.R16577R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.R22949R|TTN_ENST00000342175.6_Silent_p.R16644R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23876	Fibronectin type-III 85.						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)			TTATGATTTTCCTTAGTTCTA	0.393000													9	9					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84229646	84229646	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:84229646C>T	ENST00000268624.3	+	8	1617	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Silent_p.I426I|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	426	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCAGCCTCATCCTGGGTGAGC	0.667000													26	20					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281357	152281357	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152281357C>T	ENST00000368799.1	-	3	6040	c.6005G>A	c.(6004-6006)gGa>gAa	p.G2002E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2002	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)			ATGTCTTTCTCCTGCACTTGA	0.547000									Ichthyosis				200	841					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211033	36211033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:36211033C>T	ENST00000420124.1	+	3	784	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	WBP7_ENST00000222270.7_Nonsense_Mutation_p.Q262*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Nonsense_Mutation_p.Q262*																							AGTGAAACATCAGACTGGCAG	0.642000													5	4					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947339	7947339	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7947339C>T	ENST00000229307.4	+	4	785	c.566C>T	c.(565-567)cCg>cTg	p.P189L	NANOG_ENST00000526286.1_Missense_Mutation_p.P173L	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	189					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTGGTGAACCCGACTGGGAAC	0.532000													4	15					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735440	40735440	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:40735440G>A	ENST00000373198.3	-	25	3677	c.3442C>T	c.(3442-3444)Ctg>Ttg	p.L1148L	PTPRT_ENST00000373190.1_Silent_p.L1125L|PTPRT_ENST00000373201.1_Silent_p.L1116L|PTPRT_ENST00000356100.2_Silent_p.L1135L|PTPRT_ENST00000373187.1_Silent_p.L1126L|PTPRT_ENST00000373193.3_Silent_p.L1129L|PTPRT_ENST00000373184.1_Silent_p.L1136L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1126					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCTGTACCAGGTTGACCCTT	0.542000													27	95					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848207	73848207	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:73848207C>T	ENST00000523207.1	+	3	1205	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	206					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)			ATTGTGCTTTCCACCATTGCT	0.488000													58	59					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111319004	111319004	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:111319004G>A	ENST00000308208.5	+	7	999	c.757G>A	c.(757-759)Gag>Aag	p.E253K	CCDC63_ENST00000545036.1_Missense_Mutation_p.E213K|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Missense_Mutation_p.E174K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	253										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCGAGAGCTGGAGCGTCTCTA	0.552000													10	10					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851397	43851397	+	Missense_Mutation	SNP	C	C	T	rs146527428		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:43851397C>T	ENST00000372769.3	+	2	1214	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	375	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGCAGTATTTCGATCCAAACT	0.368000													16	48					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333805	138333805	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:138333805G>A	ENST00000421622.1	-	4	460	c.252C>T	c.(250-252)ctC>ctT	p.L84L	SVOPL_ENST00000419765.3_Silent_p.L204L|SVOPL_ENST00000436657.1_Silent_p.L52L|SVOPL_ENST00000288513.5_Silent_p.L52L			Q8N434	SVOPL_HUMAN	SVOP-like	204						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CGACGCGAATGAGCCAGCGCC	0.607000													30	37					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398358	23398358	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:23398358C>T	ENST00000379361.4	+	2	1862	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	334	SSD.				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						GAGTCCCTTTCGTCATGCTAG	0.483000													29	3					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123983539	123983539	+	Splice_Site	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:123983539T>G	ENST00000360013.3	+	4	577		c.e4+2		KALRN_ENST00000460856.1_Splice_Site|KALRN_ENST00000240874.3_Splice_Site	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						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						ATCTTTGAGGTGAGCCAGATT	0.468000													15	14					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379418	39379418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:39379418C>T	ENST00000518318.2	+	5	731	c.689C>T	c.(688-690)cCc>cTc	p.P230L	POU6F2_ENST00000559001.1_Missense_Mutation_p.P222L|POU6F2_ENST00000403058.1_Missense_Mutation_p.P230L|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	230	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						cagccaccacccgcctctcag	0.687000													6	6					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820223	55820223	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:55820223G>A	ENST00000328314.3	+	1	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTCCTCAGGAATTTCTCCT	0.393000													52	48					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123384	168123384	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:168123384C>T	ENST00000519560.1	-	28	3414	c.2995G>A	c.(2995-2997)Gac>Aac	p.D999N	SLIT3_ENST00000404867.3_Missense_Mutation_p.D999N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D1006N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	999	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCACAGTCATCTGGGTTG	0.562000													27	28					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108110	35108110	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:35108110G>A	ENST00000378561.1	-	2	3217	c.162C>T	c.(160-162)tcC>tcT	p.S54S	FAM214B_ENST00000488109.2_Silent_p.S54S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378554.2_Silent_p.S54S|FAM214B_ENST00000603301.1_Silent_p.S54S|FAM214B_ENST00000605244.1_Silent_p.S54S|FAM214B_ENST00000378557.1_Silent_p.S54S|FAM214B_ENST00000322813.5_Silent_p.S54S			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	54						nucleus											CAGCCGGAGGGGAAAAGATGG	0.672000													21	3					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:88533290G>A	ENST00000399271.1	+	3	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E29K	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000													7	15					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191366	152191366	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152191366G>A	ENST00000368801.2	-	3	2814	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	913					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)			AAGACCGACCGGAGCCAGACC	0.637000													55	146					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801066	185801066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:185801066C>T	ENST00000302277.6	+	4	1537	c.943C>T	c.(943-945)Caa>Taa	p.Q315*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	315						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						TTGCAAGTTTCAACTTCAGTT	0.338000													9	15					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729620	13729620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13729620C>T	ENST00000265104.4	-	69	11915	c.11811G>A	c.(11809-11811)tgG>tgA	p.W3937*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3937					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W3937*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCCAGGATCCATTTTGATG	0.368000									Kartagener syndrome				19	19					0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167435937	167435937	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:167435937C>T	ENST00000366847.3	+	8	851	c.620C>T	c.(619-621)tCc>tTc	p.S207F	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.S187F	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	207					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ACAAGTGTCTCCTTGTCAGAA	0.398000			T	FGFR1	"""MPD, NHL"""								15	23					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10783110	10783110	+	Splice_Site	SNP	C	C	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:10783110C>G	ENST00000283025.2	-	3	790	c.719_splice	c.e3+1	p.R240_splice		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	240					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCCCTTACCGCATCTGGAT	0.413000													12	14					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564680	142564680	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:142564680C>T	ENST00000392957.2	+	11	2391	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	EPHB6_ENST00000411471.2_Missense_Mutation_p.S258F|EPHB6_ENST00000442129.1_Missense_Mutation_p.S535F	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	535	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAATCCCACTCCTTCACCCTG	0.657000													60	84					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010110	35010110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:35010110C>T	ENST00000231420.6	-	12	1533	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	445					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCTACCTTATCCTGCACCATT	0.458000													22	27					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:229675332G>A	ENST00000344517.4	-	6	1252	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	404	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493000													24	45					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62733965	62733965	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:62733965G>A	ENST00000371153.4	-	5	2603	c.2225C>T	c.(2224-2226)gCc>gTc	p.A742V	KANK4_ENST00000371150.1_Missense_Mutation_p.A98V|KANK4_ENST00000354381.3_Missense_Mutation_p.A114V	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	742										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCACCTCTCGGCCTTGGAGTG	0.562000													11	20					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106053549	106053549	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:106053549G>A	ENST00000390539.2	-	0	747																											TGCAGCCAGCGAACCAGCACA	0.677000													11	21					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701415	13701415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13701415C>T	ENST00000265104.4	-	77	13573	c.13469G>A	c.(13468-13470)gGa>gAa	p.G4490E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					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)					AGTTAAAAATCCCTGGGGGTT	0.408000									Kartagener syndrome				29	32					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110252476	110252476	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:110252476C>T	ENST00000418703.2	-	1	220	c.126G>A	c.(124-126)ggG>ggA	p.G42G	TRPV4_ENST00000392719.2_Silent_p.G42G|TRPV4_ENST00000541794.1_Silent_p.G42G|TRPV4_ENST00000346520.2_Silent_p.G42G|TRPV4_ENST00000261740.2_Silent_p.G42G|TRPV4_ENST00000544971.1_Silent_p.G42G|TRPV4_ENST00000537083.1_Silent_p.G42G|TRPV4_ENST00000536838.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	42					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGCCATCCTCCCCCTCAAACA	0.677000													8	5					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134734	203134734	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:203134734G>A	ENST00000367236.4	+	3	1608	c.687G>A	c.(685-687)gaG>gaA	p.E229E	ADORA1_ENST00000309502.3_Silent_p.E229E|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.E229E	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	229					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATGGGAAGGAGCTGAAGATCG	0.572000													69	33					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475757	133475757	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:133475757G>A	ENST00000402696.3	+	7	1259	c.774G>A	c.(772-774)aaG>aaA	p.K258K	TF_ENST00000264998.3_Silent_p.K131K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	258	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATGAATACAAGGACTGCCACT	0.572000													34	42					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45369757	45369757	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:45369757C>T	ENST00000559488.1	+	10	1529	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	ITGB3_ENST00000560629.1_Missense_Mutation_p.S493L|ITGB3_ENST00000435993.2_Missense_Mutation_p.R458C	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	505	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|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|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGAGGACTATCGCCCTTCCCA	0.627000													24	31					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100691270	100691270	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100691270G>A	ENST00000306151.4	+	4	12473	c.12409G>A	c.(12409-12411)Gga>Aga	p.G4137R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4137	EGF-like.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAGGCTTTGGAGATGGGTG	0.517000													78	101					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894365	54894365	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:54894365C>T	ENST00000293373.6	+	3	341	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L38F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	88					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTAGATTCCTCACCAACTA	0.388000													26	43					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575874	52575874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:52575874G>A	ENST00000395489.2	-	11	1408	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	A1CF_ENST00000373995.3_Missense_Mutation_p.P353S|A1CF_ENST00000373993.1_Missense_Mutation_p.P345S|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.P345S|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.P290S|A1CF_ENST00000282641.2_Missense_Mutation_p.P345S|A1CF_ENST00000374001.1_Missense_Mutation_p.P345S	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	345					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TAGAAGACAGGAGCTCCAAGG	0.532000													19	22					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372833	135372833	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:135372833C>T	ENST00000368517.3	-	3	198	c.60G>A	c.(58-60)ctG>ctA	p.L20L	SYCE1_ENST00000432597.2_Silent_p.L20L|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.L56L	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	56					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCCGGTTAATCAGGACCTCAA	0.582000													24	26					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216436	208216436	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:208216436G>A	ENST00000367033.3	-	21	4744	c.3987C>T	c.(3985-3987)atC>atT	p.I1329I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1329					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGGTCCTCGATGCCCGGGA	0.597000													23	40					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:124034607C>T	ENST00000368994.2	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000260723.4_Missense_Mutation_p.S4L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGATAATGTCGAACACGGTG	0.393000													31	34					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170007497	170007497	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:170007497G>C	ENST00000367765.1	-	5	1832	c.331C>G	c.(331-333)Cgg>Ggg	p.R111G	KIFAP3_ENST00000538366.1_Missense_Mutation_p.R73G|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R107G|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R151G	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	151					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGAACCCCGAACTTTGTCA	0.328000													41	24					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563765	156563765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:156563765C>T	ENST00000368234.3	+	6	743	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	APOA1BP_ENST00000368235.3_Silent_p.T252T			Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	0	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAGTTTACCGGTCGCTACC	0.542000													59	137					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939793	22939793	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:22939793C>T	ENST00000397104.3	-	6	2537	c.2538G>A	c.(2536-2538)agG>agA	p.R846R						zinc finger protein 99											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)				TCTTATGTTTCCTAAGGGCTG	0.348000													14	19					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72406140	72406140	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:72406140G>A	ENST00000359373.5	-	27	4430	c.3579C>T	c.(3577-3579)gtC>gtT	p.V1193V	ARAP1_ENST00000393605.3_Silent_p.V953V|ARAP1_ENST00000429686.1_Silent_p.V887V|ARAP1_ENST00000426523.1_Silent_p.V948V|ARAP1_ENST00000393609.3_Silent_p.V1193V|ARAP1_ENST00000455638.2_Silent_p.V1193V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.V948V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1193	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGATGCTGGGACCTGCAAGG	0.582000													42	1					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518280	113518280	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:113518280G>A	ENST00000284601.3	-	4	2935	c.2867C>T	c.(2866-2868)tCa>tTa	p.S956L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	956					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						TTCTCTTGTTGAATTACAAAT	0.383000													43	55					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177177	44177177	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:44177177G>A	ENST00000360029.3	-	2	1335	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCATTACAGGAAGTCCCACT	0.468000										HNSCC(17;0.042)			21	16					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126333096	126333096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:126333096G>A	ENST00000525144.2	-	6	947	c.698C>T	c.(697-699)gCc>gTc	p.A233V	KIRREL3_ENST00000525704.2_Missense_Mutation_p.A233V|KIRREL3_ENST00000529097.2_Missense_Mutation_p.A233V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	233	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCGGGGATGGCTTTGTTGGT	0.627000													22	1					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66872782	66872782	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:66872782C>T	ENST00000269080.2	-	32	4279	c.4142G>A	c.(4141-4143)gGa>gAa	p.G1381E	ABCA8_ENST00000586539.1_Missense_Mutation_p.G1421E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G1421E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1381	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)					TCTCTTTATTCCCTCTGACAA	0.527000													22	37					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55883554	55883554	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:55883554C>T	ENST00000521992.1	-	12	1637	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	CES5A_ENST00000290567.9_Missense_Mutation_p.G469R|CES5A_ENST00000518005.1_Missense_Mutation_p.G363R|CES5A_ENST00000520435.1_Missense_Mutation_p.G439R|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Intron	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	469						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAATGTCCCCCTTCAGGAAG	0.567000													40	67					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90782052	90782052	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:90782052G>A	ENST00000220751.4	+	4	850	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	RIPK2_ENST00000540020.1_Missense_Mutation_p.R42Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	179	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCACAGTCACGAAGTAGCAAA	0.393000													58	67					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63826365	63826365	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:63826365C>T	ENST00000233114.8	+	5	872	c.437C>T	c.(436-438)tCc>tTc	p.S146F	MDH1_ENST00000539945.1_Missense_Mutation_p.S164F|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_Missense_Mutation_p.S57F|MDH1_ENST00000409476.1_Missense_Mutation_p.S22F|MDH1_ENST00000394423.1_Missense_Mutation_p.S146F	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	146					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TCAGCTCCATCCATCCCCAAG	0.423000													23	22					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873812	66873812	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:66873812C>T	ENST00000269080.2	-	31	4064	c.3927G>A	c.(3925-3927)ctG>ctA	p.L1309L	ABCA8_ENST00000586539.1_Silent_p.L1349L|ABCA8_ENST00000430352.2_Silent_p.L1349L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1309	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)					CGCTCCCTTTCAGTAGCACCT	0.537000													23	26					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249868	140249868	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140249868T>A	ENST00000398640.2	+	1	1180	c.1180T>A	c.(1180-1182)Ttc>Atc	p.F394I	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_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)			CCACGTTCCCTTCAAGCTGGT	0.607000													55	51					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684371	100684371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100684371C>T	ENST00000306151.4	+	3	9738	c.9674C>T	c.(9673-9675)aCt>aTt	p.T3225I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3225	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCATTAACTAGTGTACCT	0.483000													232	247					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049388	70049388	+	Silent	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:70049388C>A	ENST00000370598.1	+	26	4272	c.3451C>A	c.(3451-3453)Cgg>Agg	p.R1151R	BAI3_ENST00000238918.8_Silent_p.R357R|BAI3_ENST00000546190.1_Silent_p.R115R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1151					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)				CTGCATTCTTCGGAGAGAGGT	0.373000													35	49					3.43241e-23	3.50169e-23	1	1	0
ABCB10	23456	broad.mit.edu	37	1	229654618	229654618	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:229654618G>A	ENST00000344517.4	-	12	1997	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L	ABCB10_ENST00000498158.1_5'UTR	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	652	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAGAATTTTGGGATTCTGAAG	0.299000													20	34					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105819932	105819932	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:105819932G>A	ENST00000353479.5	-	14	1376	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	COL17A1_ENST00000393211.3_Silent_p.I362I|COL17A1_ENST00000369733.3_Silent_p.I362I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	362	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTGGTCATGATGAGCAGCT	0.522000													21	39					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306561	306561	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:306561A>C	ENST00000428720.1	-	10	1800	c.1057T>G	c.(1057-1059)Tct>Gct	p.S353A	SLC6A12_ENST00000359674.4_Missense_Mutation_p.S353A|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S353A|SLC6A12_ENST00000397296.2_Missense_Mutation_p.S353A|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S353A	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	353					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCACTTCAGAAATGGGCACC	0.557000													6	12					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24566228	24566228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:24566228C>T	ENST00000216780.4	+	2	425	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.R65C|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Missense_Mutation_p.R53C	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	53					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCACAGTGCCCGCCTGTGCCA	0.582000													17	42					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28276336	28276336	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:28276336C>T	ENST00000305242.5	-	3	453	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ARMC4_ENST00000239715.3_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	121							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTGGGCTTCCTTCAACTTC	0.438000													11	15					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509279	110509279	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:110509279T>A	ENST00000378402.5	+	64	10563	c.10459T>A	c.(10459-10461)Tat>Aat	p.Y3487N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3487					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGCTGGGATTATGGAATTTA	0.338000										HNSCC(38;0.096)			12	22					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30672231	30672231	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:30672231C>T	ENST00000534862.1	+	9	1023	c.660C>T	c.(658-660)ccC>ccT	p.P220P	HCK_ENST00000375862.2_Silent_p.P239P|HCK_ENST00000538448.1_Silent_p.P219P|HCK_ENST00000520553.1_Silent_p.P219P|HCK_ENST00000518730.1_Silent_p.P218P|HCK_ENST00000375852.2_Silent_p.P240P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	240	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTCGGTGCCCTGCATGTCTT	0.572000													17	26					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610692	44610692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:44610692G>A	ENST00000336976.6	+	6	633	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	127					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTTCTCCAAAGAAGGTGATTT	0.423000													27	33					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864594	13864594	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13864594G>A	ENST00000265104.4	-	28	4612	c.4508C>T	c.(4507-4509)aCc>aTc	p.T1503I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1503	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTGTGCCCGGTGAGGGTGGT	0.453000									Kartagener syndrome				13	18					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60601685	60601685	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:60601685C>T	ENST00000326270.9	+	6	624	c.356C>T	c.(355-357)cCc>cTc	p.P119L	TLK2_ENST00000542523.1_Intron|TLK2_ENST00000343388.7_Intron|TLK2_ENST00000346027.5_Missense_Mutation_p.P119L|TLK2_ENST00000582809.1_5'UTR			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	119					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTATCCAATCCCTTACCGGTA	0.502000													10	8					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637249	129637249	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:129637249G>A	ENST00000421865.2	+	27	4040	c.3991G>A	c.(3991-3993)Gat>Aat	p.D1331N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1331	Laminin IV type A 2.				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)		AGACTTCTTGGATATACTATA	0.333000													19	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614089	179614089	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179614089G>A	ENST00000360870.5	-	46	13260	c.13038C>T	c.(13036-13038)atC>atT	p.I4346I	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	480	Ig-like 23.						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)			TGGGCTTGCTGATTTTTATGG	0.423000													33	47					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992767	42992767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:42992767G>A	ENST00000253408.5	-	1	153	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.R30C|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.R30C	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	30	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGACCCAGACGGCGGCCAGGA	0.672000													8	11					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055810	68055810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:68055810G>A	ENST00000478136.1	+	2	531	c.41G>A	c.(40-42)tGg>tAg	p.W14*	FAM19A1_ENST00000496687.1_Nonsense_Mutation_p.W14*	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	14						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTGTATTTGTGGATAAGTGCT	0.522000													26	54					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604514	57604514	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:57604514C>T	ENST00000243077.3	+	83	13234	c.12768C>T	c.(12766-12768)tgC>tgT	p.C4256C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4256	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCCACGTGCCGGTGCCCCA	0.662000													26	62					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923842	43923842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:43923842C>T	ENST00000329196.5	+	1	1587	c.1570C>T	c.(1570-1572)Ctc>Ttc	p.L524F	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	524						integral to membrane	aspartic-type endopeptidase activity										AGAGCTCAGCCTCTTCTGGAC	0.632000													39	35					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53427596	53427596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:53427596C>T	ENST00000262056.9	+	9	1312	c.986C>T	c.(985-987)cCc>cTc	p.P329L	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.P329L|EIF4B_ENST00000416762.3_Missense_Mutation_p.P290L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	329	Arg-rich.				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						TTAGGTCCCCCCCAAAGACCC	0.428000													13	15					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148193	100148193	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:100148193G>A	ENST00000370575.4	-	13	1413	c.1365C>T	c.(1363-1365)tcC>tcT	p.S455S	PYROXD2_ENST00000483923.1_Intron	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	455							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGTGAAGAGGGAGACTACAT	0.612000													7	10					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113846	117113846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:117113846C>T	ENST00000310357.3	-	6	2261	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GPRC6A_ENST00000530250.1_Missense_Mutation_p.G572E|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G676E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	747					response to amino acid stimulus		G-protein coupled receptor activity	p.G747E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGTATGGATCCCTCCTCACA	0.453000													6	13					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80943070	80943070	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:80943070C>T	ENST00000376588.3	+	8	1041	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	PSAT1_ENST00000347159.2_Intron	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	325					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGATAAAGCTCTTGAACTCAA	0.383000													22	4					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128558	55128558	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:55128558G>A	ENST00000370862.3	+	4	1036	c.700G>A	c.(700-702)Gca>Aca	p.A234T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	234					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GACATACATGGCACCACTGTG	0.388000													11	10					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826292	117826292	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:117826292G>A	ENST00000350763.4	-	12	3954	c.3543C>T	c.(3541-3543)ctC>ctT	p.L1181L	TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Silent_p.L1181L|TNC_ENST00000423613.2_Silent_p.L1181L|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1181	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTTGAGTTTGAGGGCATCCC	0.532000													108	9					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169962	57169962	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:57169962G>A	ENST00000371244.4	+	7	1173	c.1107G>A	c.(1105-1107)agG>agA	p.R369R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	369					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATCCAGAAAGGATGCCACCTC	0.478000													19	26					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20548646C>T	ENST00000329697.6	-	14	1836	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_ENST00000565232.1_Silent_p.G556G|ACSM2B_ENST00000565322.1_Silent_p.G477G|ACSM2B_ENST00000567001.1_Silent_p.G556G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	556					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						GTTGAATTTTCCCTGTGACAG	0.473000													59	11					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851789	39851789	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:39851789C>T	ENST00000538976.1	+	15	2079	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R633W|DAAM2_ENST00000274867.4_Missense_Mutation_p.R633W|RP11-61I13.3_ENST00000607215.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	633	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGGTATTTCGGATCCTGGA	0.493000													8	8					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229250	39229250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:39229250G>A	ENST00000340369.3	-	2	1915	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	XIRP1_ENST00000396251.1_Missense_Mutation_p.H563Y|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	563	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCCGTTGGTGGATCATCTCC	0.622000													19	24					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212557	50212557	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:50212557C>T	ENST00000284509.6	-	18	1950	c.1809G>A	c.(1807-1809)ctG>ctA	p.L603L	ATP8B4_ENST00000559829.1_Silent_p.L603L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	603					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTTGTCATCCAGGTCTCTGT	0.453000													21	5					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753824	48753824	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:48753824C>T	ENST00000285238.8	+	23	3333	c.3253C>T	c.(3253-3255)Cct>Tct	p.P1085S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1085	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGTTCTGGCCCCTGTCATCCT	0.542000													71	64					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437379	1437379	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:1437379G>A	ENST00000345913.4	+	4	440	c.349_splice	c.e4+1	p.D117_splice	TPO_ENST00000382269.3_Splice_Site_p.D117_splice|TPO_ENST00000382201.3_Splice_Site_p.D117_splice|TPO_ENST00000382198.1_Splice_Site_p.D117_splice|TPO_ENST00000539820.1_Splice_Site_p.D117_splice|TPO_ENST00000346956.3_Splice_Site_p.D117_splice|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Splice_Site_p.D117_splice|TPO_ENST00000349624.3_Splice_Site_p.D117_splice|TPO_ENST00000337415.3_Splice_Site_p.D117_splice	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	117					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.D117N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCATCCAACGGGTAATGTGTG	0.498000													8	14					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961840	73961840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:73961840G>A	ENST00000373468.1	-	3	3203	c.2552C>T	c.(2551-2553)tCa>tTa	p.S851L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S851L			Q5QGS0	K2022_HUMAN	KIAA2022	851					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGTACAAATGATTTTTCGGT	0.448000													43	4					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440821	168440821	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:168440821G>A	ENST00000443060.2	+	7	962	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	KIF25_ENST00000351261.3_Missense_Mutation_p.V191M|KIF25_ENST00000354419.2_Missense_Mutation_p.V191M			Q9UIL4	KIF25_HUMAN	kinesin family member 25	191	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCCACCCTGGTGCACGCGGA	0.577000													12	40					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119936442	119936442	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:119936442G>A	ENST00000361035.4	+	9	1357	c.1074G>A	c.(1072-1074)ttG>ttA	p.L358L	HAO2_ENST00000325945.3_Silent_p.L345L|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	345					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)		ATCGAAACTTGGTCCAGTTTT	0.473000													124	44					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48704093	48704093	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:48704093C>A	ENST00000352832.5	+	34	7106	c.6734C>A	c.(6733-6735)cCa>cAa	p.P2245Q	CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2316Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2309Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2293Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2279Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2238Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2245Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P2189Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2222Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2327Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2254Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2268Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2272Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2286Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2361Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P2200Q|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2372Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2234Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2338Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2227Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2282Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2261Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P2166Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2256Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2301Q	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	2372					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)	TCCTCTGACCCAGCAGACCTG	0.587000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	69					4.29146e-36	4.39136e-36	1	1	0
SOX30	11063	broad.mit.edu	37	5	157053483	157053483	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:157053483G>A	ENST00000265007.6	-	5	2468	c.2127C>T	c.(2125-2127)aaC>aaT	p.N709N	SOX30_ENST00000519442.1_Silent_p.N404N|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	709					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGCACAGGGTTTAAGTTTT	0.458000													18	26					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242155654	242155654	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:242155654G>A	ENST00000274979.8	+	19	2237		c.e19+1		ANO7_ENST00000402430.3_Splice_Site	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7							cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGGAAATGGGTAGGAGCCCG	0.632000													7	9					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515435	56515435	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:56515435C>T	ENST00000390649.3	+	2	416	c.416C>T	c.(415-417)tCg>tTg	p.S139L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	139	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGAACCCTCTCGGAGAAGGCA	0.512000													16	20					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954001	50954001	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50954001C>T	ENST00000374103.4	-	11	1404	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.R383Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R231Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	440					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCGGGCCATTCGGGGGTCTGT	0.557000													18	18					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17639518	17639518	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:17639518G>A	ENST00000377813.1	-	3	1938	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Silent_p.I545I|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	545	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTTTGCCCTGGATGGGAGCTC	0.512000													32	73					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141795408	141795408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:141795408C>T	ENST00000475668.2	+	64	7556	c.7502C>T	c.(7501-7503)tCc>tTc	p.S2501F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1605F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1605					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)	GTGAATATTTCCAGAACTGTC	0.493000													57	49					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155698	155698	+	RNA	SNP	C	C	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:155698C>G	ENST00000510175.1	+	0	1133							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAAGTGTTTGCAAACCTGCAT	0.363000													5	11					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903583	5903583	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:5903583G>A	ENST00000378961.4	+	4	997	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	265						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAATCTGAGGAAGGTGAGGA	0.607000													4	19					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225563	21225563	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:21225563G>A	ENST00000233242.1	-	29	12858	c.12731C>T	c.(12730-12732)tCc>tTc	p.S4244F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4244					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)	TTGGAAATAGGAAAACAGTAT	0.378000													24	39					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700823	164700823	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:164700823G>A	ENST00000264382.3	-	46	5276	c.5214C>T	c.(5212-5214)gaC>gaT	p.D1738D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1738	Sucrase.				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)	ATAAATATAGGTCTCTTTCAT	0.318000										HNSCC(35;0.089)			15	12					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357838	38357838	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38357838C>T	ENST00000273173.4	+	9	1647	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	SLC22A14_ENST00000448498.1_Missense_Mutation_p.S519F	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	519						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGGCTGGTGTCTCTGGCCTCG	0.617000													18	15					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9011756	9011756	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:9011756C>T	ENST00000319474.2	+	3	558	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	0					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)		GTACCTTCTTCCTTTAGGGCT	0.552000													9	19					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532304	50532304	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50532304C>T	ENST00000374144.3	+	3	2002	c.1714C>T	c.(1714-1716)Ccc>Tcc	p.P572S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P572S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	572										endometrium(1)	1						ACACATCAATCCCCAGAAGGA	0.542000													12	22					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9318684	9318684	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:9318684C>T	ENST00000378501.2	+	3	210	c.195C>T	c.(193-195)atC>atT	p.I65I	PLCB4_ENST00000334005.3_Silent_p.I65I|PLCB4_ENST00000378493.1_Silent_p.I65I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.I65I|PLCB4_ENST00000414679.2_Silent_p.I65I|PLCB4_ENST00000278655.4_Silent_p.I65I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	65					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						GCTCCCTCATCAACAGTATTC	0.423000													14	27					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381320	102381320	+	RNA	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:102381320A>G	ENST00000419462.1	+	0	732					NR_002182.1																						TTGATGAAGAACCAGTCAGTA	0.473000													27	32					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604513	57604513	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:57604513G>T	ENST00000243077.3	+	83	13233	c.12767G>T	c.(12766-12768)tGc>tTc	p.C4256F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4256	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGCCCACGTGCCGGTGCCCC	0.657000													25	64					5.71845e-15	5.79294e-15	1	1	0
CYP4X1	260293	broad.mit.edu	37	1	47505164	47505164	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:47505164G>A	ENST00000371901.3	+	8	1283	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.E344K|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	345						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATGCCGGGAGGAGGTCAGGGG	0.507000													18	18					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279878	152279878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152279878G>A	ENST00000368799.1	-	3	7519	c.7484C>T	c.(7483-7485)aCc>aTc	p.T2495I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2495	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)			CTGGGATGTGGTGTGGCTGTG	0.547000									Ichthyosis				125	353					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609331	32609331	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:32609331C>T	ENST00000343139.5	+	2	429	c.327C>T	c.(325-327)acC>acT	p.T109T	HLA-DQA1_ENST00000395363.1_Silent_p.T109T|HLA-DQA1_ENST00000374949.2_Silent_p.T109T	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	108	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CCGCTGCTACCAATGGTATGC	0.453000													28	1					0	0	1	0	0
ZNF22	7570	broad.mit.edu	37	10	45499062	45499062	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:45499062C>T	ENST00000298299.3	+	2	839	c.246C>T	c.(244-246)tcC>tcT	p.S82S	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	82					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GAAAGAAATCCCATAAATGTG	0.398000													10	15					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9967548	9967548	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9967548G>A	ENST00000264833.4	-	5	807	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R130W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	208	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCCATGGCCCGAACGGTGATG	0.652000													4	9					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121867	103121867	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103121867C>T	ENST00000295269.4	+	4	1592	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	379					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						GGGCAAGAATCACGAGTGGAA	0.537000													17	23					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008362	34008362	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:34008362A>G	ENST00000373381.4	-	58	9411	c.9235T>C	c.(9235-9237)Tcg>Ccg	p.S3079P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3053	Sushi 24.					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)				CCATTGACCGAGCAGTGACGG	0.592000													12	14					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74308114	74308114	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:74308114C>T	ENST00000395792.2	+	5	684	c.584C>T	c.(583-585)gCt>gTt	p.A195V	AFP_ENST00000226359.2_Missense_Mutation_p.A195V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	195	Albumin 1.				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)			TGCTGCAAAGCTGAAAATGCA	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				12	30					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170735	58170735	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:58170735C>T	ENST00000309403.2	-	1	147	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACAGGAATCCCAGAATATC	0.423000													47	4					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493206	73493206	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:73493206C>T	ENST00000314256.7	+	26	3728	c.3334C>T	c.(3334-3336)Ctg>Ttg	p.L1112L	KIAA0195_ENST00000375248.5_Silent_p.L1122L|KIAA0195_ENST00000579208.1_Silent_p.L763L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1112					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTTCTTGCCTGGTCCAGCT	0.562000													16	33					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47732018	47732018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:47732018C>T	ENST00000525123.1	-	4	428	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	AGBL2_ENST00000357610.3_Missense_Mutation_p.R48Q|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.R48Q|AGBL2_ENST00000298861.4_Missense_Mutation_p.R48Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	48					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTTATTCTTCCGAACATGCTG	0.428000													51	4					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(1)		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)				TGGTGTTTTTCGTCCTTGCAC	0.438000													30	40					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457336	107457336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:107457336G>A	ENST00000318763.5	+	1	677	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TATTACCTGTGAAATTTTGGC	0.383000													66	7					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381439	101381439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:101381439G>A	ENST00000392979.3	+	7	981	c.620G>A	c.(619-621)aGg>aAg	p.R207K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R242K|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	242						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGCCAGCAAAGGATCCATCAG	0.527000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	56					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794915	229794915	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:229794915C>T	ENST00000258243.2	+	10	4582	c.4446C>T	c.(4444-4446)atC>atT	p.I1482I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1482						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCTCTGCATCGAGCCTGACG	0.507000													120	82					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709727	52709727	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:52709727C>T	ENST00000293670.3	-	7	1274	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	404	Coil 2.|Rod.				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)		TCTCGATATCCAGGCCTAGCT	0.622000													26	52					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328613	152328613	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152328613G>A	ENST00000388718.5	-	3	1721	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	550	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGACTTGAGCCAGAACC	0.488000													100	235					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104025427	104025427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:104025427C>T	ENST00000388887.2	+	6	743	c.539C>T	c.(538-540)aCc>aTc	p.T180I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	180	EGF-like 2.				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						GGCGATGGAACCTGTGAGTGC	0.488000													36	43					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228562329	228562329	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:228562329C>T	ENST00000570156.2	+	108	25484	c.25410C>T	c.(25408-25410)gcC>gcT	p.A8470A	OBSCN_ENST00000366707.4_Silent_p.A5147A|OBSCN_ENST00000422127.1_Silent_p.A7513A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7513					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)				TCATCTCTGCCACCCTCAAGA	0.617000													68	34					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482441	50482441	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:50482441G>A	ENST00000599538.1	-	14	1999	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	VRK3_ENST00000443401.2_Silent_p.P214P|VRK3_ENST00000594948.1_Silent_p.P445P|VRK3_ENST00000601341.1_Silent_p.P395P|VRK3_ENST00000377011.2_Silent_p.P395P|VRK3_ENST00000316763.3_Silent_p.P445P			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	445	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCATGGCGTAGGGCGGCTTCT	0.577000													16	17					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872587	213872587	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:213872587G>A	ENST00000457361.1	-	8	1246	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	IKZF2_ENST00000342002.2_Missense_Mutation_p.H366Y|IKZF2_ENST00000421754.2_Missense_Mutation_p.H286Y|IKZF2_ENST00000374327.4_Missense_Mutation_p.H215Y|IKZF2_ENST00000434687.1_Missense_Mutation_p.H360Y|IKZF2_ENST00000374319.4_Missense_Mutation_p.H334Y|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.H288Y	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTATTTGGATGATAGACCTGA	0.498000													17	17					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116380980	116380980	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:116380980C>T	ENST00000397752.3	+	5	1802	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	MET_ENST00000436117.2_Silent_p.P534P|MET_ENST00000318493.6_Silent_p.P534P|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	534					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGCCCCACCCTTTGTTCAGT	0.537000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				81	98					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191608	40191608	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:40191608C>T	ENST00000360214.3	+	9	1453	c.993C>T	c.(991-993)ttC>ttT	p.F331F	ETS2_ENST00000360938.3_Silent_p.F331F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	331					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCATGTCTTTCAAGGATTACA	0.537000													7	9					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894232	63894232	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:63894232G>A	ENST00000334025.2	+	5	978	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	218					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAAACTCAGGGAAACTATGCC	0.333000													33	56					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137651	40137651	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:40137651C>T	ENST00000278198.2	-	2	2155	c.192G>A	c.(190-192)cgG>cgA	p.R64R	LRRC4C_ENST00000528697.1_Silent_p.R64R|LRRC4C_ENST00000527150.1_Silent_p.R64R|LRRC4C_ENST00000530763.1_Silent_p.R64R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	64	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCAGGTTTTTCCGAACACAAA	0.532000													23	3					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555261	10555261	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:10555261G>A	ENST00000304519.5	+	3	423	c.394G>A	c.(394-396)Gac>Aac	p.D132N	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	132										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGGCCAGGACCAGCAGGT	0.622000													76	99					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71825180	71825180	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:71825180C>T	ENST00000373545.3	-	24	3017	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q	PHKA1_ENST00000339490.3_Missense_Mutation_p.R919Q|PHKA1_ENST00000373539.3_Missense_Mutation_p.R919Q|PHKA1_ENST00000541944.1_Missense_Mutation_p.R860Q|PHKA1_ENST00000373542.4_Missense_Mutation_p.R919Q			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	919					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R919Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAGACCAATTCGAAGTCGAAA	0.403000													20	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621260	179621260	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:179621260G>A	ENST00000589042.1	-	46	11167	c.10943C>T	c.(10942-10944)tCt>tTt	p.S3648F	TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3477F|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3335	Ig-like 22.						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)			ACATTCCTTAGATAGCTCAGT	0.473000													16	17					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047521	11047521	+	RNA	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr21:11047521C>T	ENST00000470054.1	-	0	733									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCATAATTCGTTGAAGACA	0.348000													22	189					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:150499314C>T	ENST00000484928.1	+	3	767	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176A_ENST00000461345.1_Silent_p.I3I|TMEM176A_ENST00000004103.3_Silent_p.I62I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000													50	75					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621442	65621442	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:65621442G>A	ENST00000327987.4	-	14	2501	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	750										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCAGCACGGAGAGCTGGG	0.706000													5	2					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458654	12458654	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:12458654G>A	ENST00000397026.2	+	8	1587		c.e8+1		PPARG_ENST00000287820.6_Splice_Site|PPARG_ENST00000397015.2_Splice_Site|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Splice_Site|PPARG_ENST00000397012.2_Splice_Site|PPARG_ENST00000309576.6_Splice_Site|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma						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)	CTCAGTGGAGGTAAGATTTGT	0.398000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	10					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055344	72055344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:72055344G>A	ENST00000555818.1	+	2	1103	c.755G>A	c.(754-756)gGc>gAc	p.G252D	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G252D|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G252D	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	252					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTGGTGGCAAGGGTTCT	0.443000													25	30					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133767818	133767818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:133767818G>A	ENST00000367895.5	+	4	598	c.134G>A	c.(133-135)gGt>gAt	p.G45D	EYA4_ENST00000430974.2_Missense_Mutation_p.G45D|EYA4_ENST00000355167.3_Missense_Mutation_p.G45D|EYA4_ENST00000531901.1_Missense_Mutation_p.G45D|EYA4_ENST00000355286.6_Missense_Mutation_p.G45D|EYA4_ENST00000431403.2_Missense_Mutation_p.G45D|EYA4_ENST00000525849.1_Missense_Mutation_p.G45D|EYA4_ENST00000452339.2_Missense_Mutation_p.G45D	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	45					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTGGAGGTGGTGATACTCCA	0.443000													26	18					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136082624	136082624	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:136082624C>T	ENST00000372034.3	-	4	418	c.377G>A	c.(376-378)gGa>gAa	p.G126E	OBP2B_ENST00000372032.2_Silent_p.G81G|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	126					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CACAAGCTTTCCCATGTGGAG	0.622000													21	4					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1540060	1540060	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:1540060C>T	ENST00000263071.4	-	10	1625	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	SCARF1_ENST00000571272.1_Silent_p.P513P|SCARF1_ENST00000348987.3_Missense_Mutation_p.D440N	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	526	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACTCAGGATCGGATGAGAAG	0.612000													52	57					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040559	54040559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:54040559G>T	ENST00000373980.4	+	13	1831	c.1414G>T	c.(1414-1416)Gaa>Taa	p.E472*	PRKG1_ENST00000401604.2_Nonsense_Mutation_p.E457*|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E445*|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E175*	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	457	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGGTTCGTTTGAAGATTCTAC	0.333000													27	29					2.85442e-18	2.8974e-18	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129037264	129037264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:129037264G>A	ENST00000274487.4	+	20	3265	c.3120G>A	c.(3118-3120)tgG>tgA	p.W1040*	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1040	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGACCGTGTGGGAGGCGGGAG	0.567000													15	27					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602911	138602911	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:138602911G>A	ENST00000440172.1	-	2	1509	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	KIAA1549_ENST00000422774.1_Silent_p.S487S|KIAA1549_ENST00000242365.4_Silent_p.S437S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	487						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGATAGGTCTGGAGGGGAAAA	0.463000			O	BRAF	pilocytic astrocytoma								11	24					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432674	50432674	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:50432674G>A	ENST00000442544.2	+	3	1289	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	DCC_ENST00000412726.1_Missense_Mutation_p.E73K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	225	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AACAGGAAATGAAGCAGAAGT	0.423000													19	29					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558190	149558190	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:149558190C>T	ENST00000223210.4	+	7	2186	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCCGCTACTTCAAGCAGATGG	0.587000													25	15					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181439	24181439	+	Silent	SNP	C	C	T	rs141430545	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:24181439C>T	ENST00000265769.4	+	9	923	c.813C>T	c.(811-813)ttC>ttT	p.F271F	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Silent_p.F271F|ADAM28_ENST00000540823.1_Silent_p.F38F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.F18F	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	271	Peptidase M12B.				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)		ATGCAAGCTTCACCTTGGAGA	0.388000													16	26					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094462	72094462	+	Silent	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:72094462T>C	ENST00000355906.5	+	7	952	c.894T>C	c.(892-894)taT>taC	p.Y298Y	HP_ENST00000562526.1_Intron|HP_ENST00000565574.1_Silent_p.Y239Y|HP_ENST00000398131.2_Silent_p.Y239Y|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.Y239Y	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	298	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ATCTGAAGTATGTCATGCTGC	0.493000													15	19					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155150656	155150656	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:155150656T>A	ENST00000392451.2	+	6	1171	c.1088T>A	c.(1087-1089)gTg>gAg	p.V363E	TRIM46_ENST00000368383.3_Missense_Mutation_p.V363E|TRIM46_ENST00000368385.4_Missense_Mutation_p.V363E|TRIM46_ENST00000334634.4_Missense_Mutation_p.V363E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.V340E|TRIM46_ENST00000545012.1_Missense_Mutation_p.V237E|TRIM46_ENST00000543729.1_Missense_Mutation_p.V370E			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	363						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGGTCTGGTGGGCTATGCC	0.602000													3	53					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69252768	69252768	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:69252768G>A	ENST00000551568.1	-	8	1084	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	CPM_ENST00000546373.1_Missense_Mutation_p.P342S|CPM_ENST00000338356.3_Missense_Mutation_p.P342S	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	342					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GTTCTATAGGGGCAGATATGT	0.333000													20	33					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351826	123351826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:123351826G>A	ENST00000267202.2	-	4	1076	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTACGGCACGGCCTGTCCCGA	0.687000													4	5					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329631	7329631	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:7329631C>T	ENST00000333870.3	+	3	395	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	107						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACTCCTCTTTCTCCTGCCACC	0.617000													50	51					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97057618	97057618	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:97057618G>A	ENST00000524981.3	+	6	824	c.824G>A	c.(823-825)cGa>cAa	p.R275Q				Q6ZTY8	CL063_HUMAN		249								p.R249Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAACTTGCCGAAATTTCATT	0.308000													14	20					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996085	19996085	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr18:19996085G>A	ENST00000391403.2	-	1	1793	c.1690C>T	c.(1690-1692)Ctg>Ttg	p.L564L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	564						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGTGCCAGGGGCCCAGCG	0.507000													19	22					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362782	22362782	+	RNA	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:22362782C>T	ENST00000390438.2	+	0	170																											TGATTTTTACCCTGGGTTAGT	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517962	84517962	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:84517962G>A	ENST00000331369.5	+	0	156																											TCCAGTCAAGGAAACTTTGAG	0.577000													11	12					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69028022	69028022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:69028022G>A	ENST00000288368.4	+	26	3458	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1061					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCTAAATTAGAACGTAAGAC	0.338000													16	16					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379810	231379810	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:231379810G>A	ENST00000264052.5	+	25	2450	c.2094_splice	c.e25-1	p.E699_splice	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	699			E -> G (in dbSNP:rs34700604).		DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AACTTGTCAGGAGGAGCATAA	0.388000													17	28					0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43155265	43155265	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:43155265G>A	ENST00000398795.2	+	2	372	c.4G>A	c.(4-6)Gat>Aat	p.D2N	TNFSF11_ENST00000358545.2_Missense_Mutation_p.D2N|TNFSF11_ENST00000405262.2_Missense_Mutation_p.D2N|TNFSF11_ENST00000544862.1_Missense_Mutation_p.D2N|TNFSF11_ENST00000239849.6_Missense_Mutation_p.D75N	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	75					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TCCTCAGATGGATCCTAATAG	0.373000													20	31					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41146265	41146265	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:41146265C>T	ENST00000344051.4	+	6	1203	c.969C>T	c.(967-969)tcC>tcT	p.S323S	SPINT1_ENST00000562057.1_Silent_p.S307S|SPINT1_ENST00000431806.1_Silent_p.S307S			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	323						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		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;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGGCCCCTCCATGGAAAGGC	0.602000													50	10					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:56035908C>T	ENST00000244728.5	-	4	1056	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000													22	19					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:55932118C>T	ENST00000244728.5	-	23	2499	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000													10	15					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818677	101818677	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:101818677C>T	ENST00000375001.3	+	35	3751	c.3328C>T	c.(3328-3330)Ctg>Ttg	p.L1110L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1110	Nonhelical region 9 (NC9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCAGCTATCCTGGGAGCAGG	0.622000													39	1					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651747	7651747	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:7651747C>T	ENST00000359156.4	-	4	697	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000432237.2_Silent_p.G165G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	165	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACACATATTCCCTCCACGCG	0.403000													61	80					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275254	54275254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:54275254G>A	ENST00000354646.2	-	17	3965	c.3527C>T	c.(3526-3528)cCt>cTt	p.P1176L	WNK3_ENST00000375169.3_Missense_Mutation_p.P1176L|WNK3_ENST00000375159.2_Missense_Mutation_p.P1176L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1176					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGGAAATTAGGGGATTGTAC	0.443000													34	1					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175780	79175780	+	Missense_Mutation	SNP	A	A	G	rs144756457		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:79175780A>G	ENST00000554719.1	+	4	814	c.323A>G	c.(322-324)aAt>aGt	p.N108S	NRXN3_ENST00000335750.5_Missense_Mutation_p.N108S|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACAGAGCCCAATGGCCTGATC	0.512000													29	39					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186257163	186257163	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186257163G>A	ENST00000392499.2	-	3	584	c.245C>T	c.(244-246)tCc>tTc	p.S82F	CRYGS_ENST00000307944.5_Missense_Mutation_p.S82F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	82	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		AGCTCTGCAGGAGCTGAGGCG	0.517000													9	18					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872800	213872800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:213872800G>A	ENST00000457361.1	-	8	1033	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	IKZF2_ENST00000342002.2_Missense_Mutation_p.L295F|IKZF2_ENST00000421754.2_Missense_Mutation_p.L215F|IKZF2_ENST00000374327.4_Missense_Mutation_p.L144F|IKZF2_ENST00000434687.1_Missense_Mutation_p.L289F|IKZF2_ENST00000374319.4_Missense_Mutation_p.L263F|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.L217F	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATCGCATGAGCTTTTCCCCT	0.378000													5	8					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94690554	94690554	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:94690554G>A	ENST00000282020.4	+	15	2812	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	GRID2_ENST00000510992.1_Missense_Mutation_p.E757K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	852					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGCCATGCTGGAGACGTGGTG	0.483000													16	26					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891980	18891980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:18891980C>T	ENST00000317658.3	+	1	936	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	260					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGAAGGGATCTTCCAGTGAC	0.408000													16	25					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899663	189899663	+	Silent	SNP	G	G	A	rs138837670		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:189899663G>A	ENST00000374866.3	-	53	4606	c.4332C>T	c.(4330-4332)atC>atT	p.I1444I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1444	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTGAAGAACGATATACCGGA	0.343000													18	25					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63143210	63143210	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:63143210G>A	ENST00000279178.3	+	5	1173	c.924G>A	c.(922-924)atG>atA	p.M308I	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	308					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGTGGAATGAAGAATGCCA	0.468000													36	2					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155299	139155299	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139155299G>A	ENST00000395297.1	-	16	3764	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1198										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)			TGTGTTGAATGATTTCATCCA	0.448000										HNSCC(54;0.14)			15	23					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223408413	223408413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:223408413G>A	ENST00000344029.6	-	6	899	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000454695.2_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGGAAATAAAGGACAGGGAAA	0.403000													13	30					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56566761	56566761	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:56566761G>A	ENST00000370754.5	-	7	779	c.780C>T	c.(778-780)ccC>ccT	p.P260P	DST_ENST00000370788.2_Silent_p.P82P|DST_ENST00000421834.2_Silent_p.P82P|DST_ENST00000361203.3_Silent_p.P82P|DST_ENST00000312431.6_Silent_p.P82P|DST_ENST00000370769.4_Silent_p.P82P			Q03001	DYST_HUMAN	dystonin	82					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)			CTTTTTCTCTGGGCTAAGAAC	0.328000													7	7					0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516626	93516626	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:93516626C>T	ENST00000222543.5	-	4	890	c.578G>A	c.(577-579)gGg>gAg	p.G193E	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	193	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTGTCATTCCCTCCACAGCC	0.388000													37	57					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:2676817C>T	ENST00000399655.1	+	13	2017	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F|CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000399591.1_Silent_p.F584F	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	584					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)	AGGCCTACTTCGTGTCCCTCT	0.607000													6	9					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168807854	168807854	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:168807854C>T	ENST00000464456.1	-	13	3944	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	MECOM_ENST00000472280.1_Missense_Mutation_p.G925E|MECOM_ENST00000460814.1_Missense_Mutation_p.G915E|MECOM_ENST00000468789.1_Missense_Mutation_p.G924E|MECOM_ENST00000433243.2_Missense_Mutation_p.G925E|MECOM_ENST00000264674.3_Missense_Mutation_p.G989E|MECOM_ENST00000392736.3_Missense_Mutation_p.G924E|MECOM_ENST00000494292.1_Missense_Mutation_p.G1103E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCAGGGTTTCCTTCATGTAA	0.423000													24	53					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:10304276C>T	ENST00000403437.2	-	26	3349	c.3254_splice	c.e26-1	p.K1085_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1085					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						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	23					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407305	105407305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:105407305G>A	ENST00000333244.5	-	7	14602	c.14483C>T	c.(14482-14484)tCc>tTc	p.S4828F	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4828						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGGTCAGTGGAGCACTCTGT	0.527000													5	10					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400735	151400735	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:151400735G>A	ENST00000271715.2	-	6	1037	c.723C>T	c.(721-723)gtC>gtT	p.V241V	POGZ_ENST00000531094.1_Silent_p.V188V|POGZ_ENST00000491586.1_Silent_p.V188V|POGZ_ENST00000368863.2_Silent_p.V146V|POGZ_ENST00000409503.1_Silent_p.V241V|POGZ_ENST00000361398.3_Silent_p.V188V|POGZ_ENST00000392723.1_Silent_p.V188V|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	241					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGACTGTGGGACGGTGCTTC	0.597000													41	106					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41726102	41726102	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:41726102C>T	ENST00000352645.4	+	6	777	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P174S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	174					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTATAAGAGGCCCCAGGTAGG	0.642000													18	18					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374087	39374087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:39374087C>T	ENST00000326306.4	+	2	403	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	89					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTCTCCTTCCCCTTTCAGAC	0.488000													59	74					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955267	57955267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:57955267C>T	ENST00000334181.4	+	3	1001	c.751C>T	c.(751-753)Cct>Tct	p.P251S	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGGAGAAAGGCCTTATGAGGG	0.403000													18	29					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747141	26747141	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:26747141C>T	ENST00000529632.2	+	12	2727	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F	SEZ6L_ENST00000343706.4_Missense_Mutation_p.S844F|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S617F|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S844F|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S844F|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S617F|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.S41F	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	844	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAAGGGAGTTCTCTTCTGACC	0.557000													16	21					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79746865	79746865	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:79746865C>T	ENST00000281127.7	+	1	1110	c.231C>T	c.(229-231)tcC>tcT	p.S77S	NRXN3_ENST00000557594.1_Silent_p.S77S|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Silent_p.S77S	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	77					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCCTGTTTCCCTTCGAGGAG	0.522000													38	57					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86393000	86393000	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:86393000C>T	ENST00000285379.5	+	7	995	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	255					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACAGGCAAATCAAAGCTTCCT	0.448000													15	20					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329076	23329076	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:23329076C>T	ENST00000597761.2	+	4	1429	c.1230C>T	c.(1228-1230)caC>caT	p.H410H		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTATCTCACACCTTACTACAC	0.363000													11	10					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408186	10408186	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:10408186C>T	ENST00000226207.5	-	22	2726	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	878						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTTTTTCTTCCAGCTCTTTC	0.418000													27	38					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137015310	137015310	+	Silent	SNP	C	C	T	rs145409110	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:137015310C>T	ENST00000359015.4	-	7	1581	c.1221G>A	c.(1219-1221)acG>acA	p.T407T		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	407					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCAGTGTCCGTGAAATTAG	0.358000													11	20					0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129350899	129350899	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:129350899C>T	ENST00000398023.1	+	3	286	c.266C>T	c.(265-267)tCa>tTa	p.S89L		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	89					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGAGCAAAATCATGACTAAGT	0.408000													35	43					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151772033	151772033	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:151772033T>G	ENST00000255262.3	-	4	1132	c.967A>C	c.(967-969)Aac>Cac	p.N323H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	323					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATAATGGGGTTGACAGCTGAG	0.473000													25	25					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64624793	64624793	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:64624793C>T	ENST00000371079.1	+	8	1679	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	435					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGAAGTCATCGTCGGCACCA	0.453000													29	31					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766133	13766133	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13766133C>T	ENST00000265104.4	-	59	10157	c.10053G>A	c.(10051-10053)caG>caA	p.Q3351Q	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3351	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAGGATTCCTGCCAGGAGG	0.448000									Kartagener syndrome				30	39					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111034	11111034	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:11111034C>T	ENST00000304623.8	-	14	2588	c.2399G>A	c.(2398-2400)gGc>gAc	p.G800D	CTNND2_ENST00000458100.2_Missense_Mutation_p.G367D|CTNND2_ENST00000503622.1_Missense_Mutation_p.G463D|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G800D|CTNND2_ENST00000511377.1_Missense_Mutation_p.G709D	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	800					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCATCCTTGCCATTGGCCTC	0.552000													105	152					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604852	90604852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:90604852C>T	ENST00000369352.1	+	1	665	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	222					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAGCCATTTCCTTGTTACTC	0.413000													26	45					0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23340497	23340497	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:23340497C>T	ENST00000466681.1	+	2	449	c.296C>T	c.(295-297)tCa>tTa	p.S99L	MALSU1_ENST00000479974.1_3'UTR	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	99						mitochondrion											ATGATGGTTTCACTTCTGAGG	0.408000													86	102					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729556	196729556	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:196729556C>T	ENST00000312428.6	-	41	6923	c.6823G>A	c.(6823-6825)Gat>Aat	p.D2275N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2275					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D2275N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCTTGGGATCATGGAAATCA	0.373000													41	46					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069004	4069004	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:4069004T>C	ENST00000274673.3	-	7	1856	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	485																	AGCTTCTGAATAGAGAATGGT	0.368000													25	25					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468737	86468737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:86468737C>T	ENST00000361669.2	+	4	3006	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P508L|GRM3_ENST00000546348.1_Missense_Mutation_p.P228L|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	636					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATTGCCAAGCCATCACCAGTC	0.522000													77	106					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147120147	147120147	+	Silent	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:147120147A>G	ENST00000369238.5	-	9	1491	c.1044T>C	c.(1042-1044)ttT>ttC	p.F348F	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	348					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATTTGTGGTCAAAAATCCCCA	0.488000													20	45					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799137	209799137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:209799137G>A	ENST00000391911.1	-	13	2221	c.1832C>T	c.(1831-1833)tCa>tTa	p.S611L	LAMB3_ENST00000356082.4_Missense_Mutation_p.S611L|LAMB3_ENST00000367030.3_Missense_Mutation_p.S611L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	611	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCCAGGCCCTGACCACAGGCT	0.632000													26	50					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52536092	52536092	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:52536092G>A	ENST00000321725.6	+	4	478	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	134	EGF-like 1.				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)		ACAGGAATGGGACCTGTGTGT	0.627000													14	23					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420144	49420144	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:49420144C>T	ENST00000374201.3	-	13	1766	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	FRMPD2_ENST00000305531.3_Silent_p.E463E|FRMPD2_ENST00000407470.4_Silent_p.E456E	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	488	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGGCTTACTCTCCACCTGCT	0.507000													7	12					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104213	53104213	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:53104213C>T	ENST00000408890.4	+	1	865	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	283								p.F283L(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTCTCCTTCGCCCTCGAGG	0.617000													44	44					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034835	107034835	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:107034835G>A	ENST00000390626.2	-	0	303																											GCCTTGGAAGGACGGGCTGTA	0.592000													42	29					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918195	39918195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:39918195C>T	ENST00000337304.2	+	2	1526	c.644C>T	c.(643-645)tCa>tTa	p.S215L	ATF4_ENST00000404241.2_Missense_Mutation_p.S215L|ATF4_ENST00000396680.1_Missense_Mutation_p.S215L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	215					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GACACCCCTTCAGATAATGAT	0.522000													15	15					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31119828	31119828	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:31119828G>A	ENST00000458591.2	+	9	954	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	SCFD1_ENST00000544052.2_Missense_Mutation_p.G176S|SCFD1_ENST00000396629.2_Missense_Mutation_p.G151S|SCFD1_ENST00000421551.3_Missense_Mutation_p.G184S|SCFD1_ENST00000541123.1_Missense_Mutation_p.G58S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	243					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCTTTTTACAGGTGATACACT	0.289000													5	19					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101936301	101936301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:101936301C>T	ENST00000251127.6	-	10	1198	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	NALCN_ENST00000376196.3_Missense_Mutation_p.A373T|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	373						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGCTGGGGCGCGTCCCTGG	0.468000													11	21					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43170918	43170918	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:43170918G>A	ENST00000252050.4	+	18	3909	c.3825G>A	c.(3823-3825)caG>caA	p.Q1275Q	CUL9_ENST00000354495.3_Silent_p.Q1165Q|CUL9_ENST00000372647.2_Silent_p.Q1275Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1275	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCATCATCCAGATCCGCATAA	0.582000													16	24					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005350	150005350	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:150005350G>A	ENST00000543571.1	-	4	1422	c.875C>T	c.(874-876)cCa>cTa	p.P292L	LATS1_ENST00000253339.5_Missense_Mutation_p.P292L|LATS1_ENST00000392273.3_Missense_Mutation_p.P292L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	292					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGCCCCAGGTGGGACAGGAGA	0.502000													32	41					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574412	22574412	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:22574412C>T	ENST00000357774.5	-	4	1746	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GAGTTTCTCTCCAGTATGAAT	0.348000													6	8					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113363430	113363430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:113363430C>T	ENST00000297405.5	-	40	6543	c.6299G>A	c.(6298-6300)tGg>tAg	p.W2100*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2030*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2060*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W1996*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2100	Sushi 11.					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						TGGATAATTCCATCTTCTTAC	0.294000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	25					0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41011740	41011740	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:41011740C>T	ENST00000373161.1	+	4	622	c.377C>T	c.(376-378)cCc>cTc	p.P126L	TSPO2_ENST00000470917.1_Missense_Mutation_p.P126L|TSPO2_ENST00000373158.2_3'UTR	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	126					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCTGGCATCCCATCAACAAA	0.617000													10	10					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4005636	4005636	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:4005636G>A	ENST00000381638.2	-	9	1771	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	549							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTCAACAAGGAGGTTTTCGG	0.483000													35	38					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128841	197128841	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:197128841G>A	ENST00000367405.4	-	10	2446	c.2378C>T	c.(2377-2379)tCg>tTg	p.S793L	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTTGGCTTCCGACTGATAAAC	0.423000													39	89					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10263534	10263534	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:10263534C>T	ENST00000360566.2	+	3	666	c.375C>T	c.(373-375)ccC>ccT	p.P125P	RRM2_ENST00000304567.5_Silent_p.P65P	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	65					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAGCTGCCCCCGGCGTGGAGG	0.493000													19	27					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186968051	186968051	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:186968051G>A	ENST00000337774.5	-	8	1467	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	MASP1_ENST00000392472.2_Missense_Mutation_p.P247S|MASP1_ENST00000296280.6_Missense_Mutation_p.P360S|MASP1_ENST00000169293.6_Missense_Mutation_p.P360S|MASP1_ENST00000392470.2_Missense_Mutation_p.P334S|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	360	Sushi 1.				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)		TTACAGGTGGGAATCTTGTTA	0.488000													47	50					0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10466052	10466052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:10466052C>T	ENST00000381908.3	+	5	622	c.362C>T	c.(361-363)tCt>tTt	p.S121F	KLRD1_ENST00000336164.4_Missense_Mutation_p.S120F|KLRD1_ENST00000543777.1_Missense_Mutation_p.S99F|KLRD1_ENST00000381907.4_Missense_Mutation_p.S120F|KLRD1_ENST00000543420.1_Intron|KLRD1_ENST00000350274.5_Missense_Mutation_p.S89F			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	120	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ATTGGACTCTCTTACAGTGAG	0.403000													27	30					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799982	119799982	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:119799982T>A	ENST00000355624.3	-	2	887	c.448A>T	c.(448-450)Agt>Tgt	p.S150C	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S150C|RP11-354M20.3_ENST00000417968.3_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	150					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCAAACATACTTGCGGTCATA	0.333000													17	19					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427378	71427378	+	Silent	SNP	A	A	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:71427378A>G	ENST00000373657.1	-	3	1472	c.870T>C	c.(868-870)caT>caC	p.H290H	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.H413H			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	413					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GCAGCCTAGGATGATCACACA	0.458000													21	1					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096879	53096879	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:53096879C>T	ENST00000341809.3	-	1	368	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	114	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCCAGCACCCCCAAAACCA	0.587000													15	20					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841059	18841059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:18841059G>A	ENST00000266505.7	-	13	1818	c.1555C>T	c.(1555-1557)Caa>Taa	p.Q519*	PLCZ1_ENST00000538330.1_Nonsense_Mutation_p.Q301*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.Q324*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.Q326*|PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.Q382*|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q517*			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	519	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGCTTCATTTGATCATTTGGA	0.343000													17	29					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423972	190423972	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:190423972G>A	ENST00000367462.3	-	2	280	c.49C>T	c.(49-51)Cta>Tta	p.L17L	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		17						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)					CACTCCCATAGAGCCATCAGA	0.512000													7	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864596	13864596	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13864596G>A	ENST00000265104.4	-	28	4610	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1502	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCCCGGTGAGGGTGGTTA	0.458000									Kartagener syndrome				12	19					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245657	4245657	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:4245657G>A	ENST00000399609.3	-	5	519	c.507C>T	c.(505-507)ttC>ttT	p.F169F	SRL_ENST00000537996.1_Silent_p.F127F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	628	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GCTTCTCTAGGAAATTCTGGC	0.517000													35	49					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995786	61995786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:61995786G>A	ENST00000323322.5	-	2	133	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	GH1_ENST00000351388.4_Missense_Mutation_p.P31S|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.P31S|GH1_ENST00000458650.2_Missense_Mutation_p.P31S	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	31					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTGGATAAGGGAATGGTTGGG	0.597000													64	86					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45297383	45297383	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:45297383G>A	ENST00000354968.1	+	4	405	c.277G>A	c.(277-279)Gag>Aag	p.E93K	MYL4_ENST00000572316.1_Missense_Mutation_p.E93K|MYL4_ENST00000393450.1_Missense_Mutation_p.E93K	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	93					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						TACCAATGCCGAGGTGCTGCG	0.617000													11	19					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75279839	75279839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:75279839C>T	ENST00000524558.1	+	3	2121	c.686C>T	c.(685-687)tCc>tTc	p.S229F	SERPINH1_ENST00000530284.1_Missense_Mutation_p.S229F|SERPINH1_ENST00000525876.1_Missense_Mutation_p.S12F|SERPINH1_ENST00000533603.1_Missense_Mutation_p.S229F|SERPINH1_ENST00000358171.3_Missense_Mutation_p.S229F			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	229					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGACTCGGTCCTATACCGTG	0.557000													28	4					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22586296	22586296	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:22586296C>T	ENST00000357774.5	-	2	170	c.49G>A	c.(49-51)Gat>Aat	p.D17N	ZNF98_ENST00000601553.1_Missense_Mutation_p.D17N	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AAGGCCACATCCCTAAATGTC	0.393000													28	27					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123806238	123806238	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:123806238C>T	ENST00000420886.2	-	16	2166	c.2167G>A	c.(2167-2169)Ggt>Agt	p.G723S	SBNO1_ENST00000602750.1_Missense_Mutation_p.G722S|SBNO1_ENST00000602398.1_Missense_Mutation_p.G723S|SBNO1_ENST00000267176.4_Missense_Mutation_p.G722S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	723							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTAAGGCCACCTACTTTTCGT	0.428000													27	27					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565525	38565525	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:38565525C>T	ENST00000287675.5	+	6	875	c.779C>T	c.(778-780)cCc>cTc	p.P260L	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.P210L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	260						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGCTTCCAGCCCCAGTTAACT	0.493000													36	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584643	82584643	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:82584643T>A	ENST00000423517.2	-	5	5963	c.5626A>T	c.(5626-5628)Aaa>Taa	p.K1876*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.K1876*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1807					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						TCTATTATTTTTTCCGGGCTT	0.383000													28	35					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976644	119976644	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:119976644C>T	ENST00000313400.4	-	3	1108	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E336E|ASTN2_ENST00000373996.3_Silent_p.E336E			O75129	ASTN2_HUMAN	astrotactin 2	336						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACCTTTCTTCTCAAAGTCCA	0.567000													102	4					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121875	103121875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103121875G>A	ENST00000295269.4	+	4	1600	c.1143G>A	c.(1141-1143)tgG>tgA	p.W381*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	381					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						ATCACGAGTGGAACTGGGCCT	0.532000													17	23					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348482	21348482	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:21348482C>T	ENST00000215739.8	+	14	1898	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.I494I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	513	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGTGGCCATCCGGGAGGCCG	0.697000													4	10					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167453	97167453	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:97167453C>T	ENST00000389672.5	+	7	1811	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	496						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTCCAAAGCCCCCAGTGTCA	0.453000													17	17					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043960	117043960	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:117043960G>A	ENST00000371876.1	-	4	2938	c.517C>T	c.(517-519)Cct>Tct	p.P173S	KLHL13_ENST00000540167.1_Missense_Mutation_p.P208S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P173S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P208S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P173S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P182S|KLHL13_ENST00000262820.3_Missense_Mutation_p.P224S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P173S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P227S			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	224					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAATGCAGGAAAATTCTTC	0.438000													31	5					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879856	1879856	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:1879856C>T	ENST00000505790.1	-	5	954	c.498G>A	c.(496-498)aaG>aaA	p.K166K	IRX4_ENST00000513692.1_Silent_p.K166K|IRX4_ENST00000231357.2_Silent_p.K166K|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	166					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGTAGGGGTTCTTGCGGTGCT	0.647000													20	37					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39433696	39433696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:39433696G>A	ENST00000280481.7	+	14	7704	c.7488G>A	c.(7486-7488)atG>atA	p.M2496I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2496					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGAGCTCATGAGCCCTATTG	0.488000													10	8					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34806815	34806815	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:34806815C>T	ENST00000338074.2	+	18	2447	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S	EPB41L1_ENST00000441639.1_Silent_p.S660S|EPB41L1_ENST00000373941.1_Silent_p.S761S|EPB41L1_ENST00000373950.2_Silent_p.S653S|EPB41L1_ENST00000373946.3_Silent_p.S582S|EPB41L1_ENST00000202028.5_Silent_p.S660S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	762	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GTCTCAAGTCCGGGAAGGGGG	0.617000													11	37					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168176487	168176487	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:168176487G>A	ENST00000519560.1	-	19	2546	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	SLIT3_ENST00000404867.3_Silent_p.F709F|SLIT3_ENST00000332966.8_Silent_p.F709F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	709	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACAGGTGAAGTCCTGGA	0.547000													28	32					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139186271	139186271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:139186271C>T	ENST00000423192.1	+	11	1591	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	ECT2L_ENST00000541398.1_Missense_Mutation_p.P408L|ECT2L_ENST00000367682.2_Missense_Mutation_p.P477L|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	477					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTGTATCCTTTCTTCAAG	0.448000			"""N, Splice, Mis"""		ETP ALL								22	23					0	0	1	0	0
MED18	54797	broad.mit.edu	37	1	28661339	28661339	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:28661339C>T	ENST00000373842.4	+	3	694	c.485C>T	c.(484-486)gCc>gTc	p.A162V	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.A162V	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	162					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		AGCACTGAGGCCTTGTCACTC	0.483000													35	23					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130785890	130785890	+	RNA	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:130785890C>T	ENST00000325390.3	-	0	2977					NR_026758.1																						ACCTGGGTTTCCTTCCAGTGA	0.493000													9	8					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50833650	50833650	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:50833650G>A	ENST00000395562.2	+	7	1107	c.638G>A	c.(637-639)aGc>aAc	p.S213N	CHAT_ENST00000395559.2_Missense_Mutation_p.S177N|CHAT_ENST00000337653.2_Missense_Mutation_p.S295N|CHAT_ENST00000455728.2_Missense_Mutation_p.S177N|CHAT_ENST00000339797.1_Missense_Mutation_p.S177N|CHAT_ENST00000351556.3_Missense_Mutation_p.S177N	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	295					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTCAGAACAGCAGCATCATG	0.592000													3	3					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975021	20975021	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20975021G>A	ENST00000261383.3	-	53	10184	c.10185C>T	c.(10183-10185)ttC>ttT	p.F3395F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3395					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)		CAGTGAGAAGGAAGTACCACA	0.527000													18	18					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874738	33874738	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:33874738G>A	ENST00000374408.3	-	4	1940	c.1844C>T	c.(1843-1845)tCa>tTa	p.S615L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	615										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGTCTGGCTGAGGAGTTGGT	0.622000													27	46					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89091967	89091967	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:89091967G>A	ENST00000393525.3	+	0	1045																											GGCATCAGAGGGAGAGCAAAA	0.328000													4	6					0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16853181	16853181	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:16853181C>T	ENST00000180166.5	-	2	521	c.373G>A	c.(373-375)Gga>Aga	p.G125R		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	125					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)		TAGAGTTCTCCTTTGTCATTC	0.323000													12	10					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481597	140481597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140481597C>T	ENST00000231130.2	+	1	1364	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		455					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)			ACCCAAATCTCCTACACCCTG	0.582000													51	77					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583405	135583405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:135583405G>A	ENST00000513104.1	-	7	1880	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	TRPC7_ENST00000355180.3_Missense_Mutation_p.P472L|TRPC7_ENST00000426057.2_Missense_Mutation_p.P417L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	533					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498000													14	27					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724548	113724548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:113724548G>A	ENST00000295878.3	-	10	1821	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	KIAA1407_ENST00000545063.1_Nonsense_Mutation_p.Q390*	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	559										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCTGTTGCTGGAAGACATGG	0.502000													34	40					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39077585	39077585	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:39077585G>A	ENST00000261425.3	+	3	536	c.383_splice	c.e3-1	p.R128_splice	KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000381930.3_Splice_Site_p.R174_splice|KLHL5_ENST00000359687.2_Splice_Site_p.R174_splice|KLHL5_ENST00000508137.2_5'UTR|KLHL5_ENST00000504108.1_Splice_Site_p.R174_splice	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	174						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTCTTTTCAGGACTTCCAATA	0.318000													19	28					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52561986	52561986	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:52561986C>T	ENST00000261839.7	-	8	1065	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	MYO5C_ENST00000443683.2_Missense_Mutation_p.E245K|MYO5C_ENST00000541028.1_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	302	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTACCATTTCAGCTCGATCA	0.358000													46	6					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7731380	7731380	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:7731380C>T	ENST00000507866.2	+	23	3158	c.3049C>T	c.(3049-3051)Ctg>Ttg	p.L1017L	SORCS2_ENST00000329016.9_Silent_p.L845L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1017						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTGGCCGATCTGTACGTGCT	0.632000													5	4					0	0	1	0	0
SMIM15	643155	broad.mit.edu	37	5	60455943	60455943	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:60455943G>A	ENST00000339020.3	-	3	481	c.56C>T	c.(55-57)cCc>cTc	p.P19L	SMIM15_ENST00000507416.1_Missense_Mutation_p.P19L	NM_001048249.3	NP_001041714.1			small integral membrane protein 15																		GAAGCCATAGGGGTCCTTTGC	0.502000													17	29					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877315	38877315	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:38877315C>T	ENST00000359357.3	+	63	9138	c.8884C>T	c.(8884-8886)Cgt>Tgt	p.R2962C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R3179C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2926C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTCCGTGCCCGTTCTTTGAA	0.473000													7	12					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64491906	64491906	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:64491906G>A	ENST00000358025.3	+	41	6249	c.6019G>A	c.(6019-6021)Gaa>Aaa	p.E2007K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E2007K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E2007K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2007					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGGTTTACTGAAGAAGAAGA	0.358000													18	21					0	0	1	0	0
RAB15	376267	broad.mit.edu	37	14	65417111	65417111	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:65417111T>G	ENST00000533601.2	-	5	683	c.346A>C	c.(346-348)Aag>Cag	p.K116Q	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000426039.3_Missense_Mutation_p.K70Q|RAB15_ENST00000267512.5_Missense_Mutation_p.R159S			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	116					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		ATAAGGATCTTCTGGACGCCT	0.562000													92	120					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42954791	42954791	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:42954791C>T	ENST00000541208.1	+	4	619	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCTGATTTGTCCGGGTAAGTG	0.423000													17	26					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346524	139346524	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:139346524A>T	ENST00000413939.2	-	3	443	c.43T>A	c.(43-45)Ttt>Att	p.F15I	NMNAT3_ENST00000339837.5_Intron|NMNAT3_ENST00000296202.7_Missense_Mutation_p.F15I|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_5'UTR|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000514703.1_Missense_Mutation_p.F15I|NMNAT3_ENST00000512391.1_Missense_Mutation_p.F15I	NM_001200047.1	NP_001186976.1	Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	15					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						ATGGGGTTAAAGGAGCCACAG	0.547000													9	10					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096103	147096103	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:147096103G>A	ENST00000234739.3	+	10	4364	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1208	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGTCCTGGGGAACAGCATGC	0.587000			T	"""IGH@, IGL@"""	B-ALL								27	47					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018827	143018827	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:143018827G>A	ENST00000343257.2	+	5	669	c.582G>A	c.(580-582)atG>atA	p.M194I	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	194					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)					TCCCCGAAATGAAGACAATAC	0.498000													54	53					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776017	144776017	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:144776017C>T	ENST00000532205.1	+	8	1332	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	ZNF707_ENST00000358656.4_Missense_Mutation_p.P145S|ZNF707_ENST00000418203.2_Missense_Mutation_p.P145S|ZNF707_ENST00000454097.1_Missense_Mutation_p.P145S|ZNF707_ENST00000532158.1_Missense_Mutation_p.P145S			Q96C28	ZN707_HUMAN	zinc finger protein 707	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGACGCCAAGCCCACGGCTTT	0.632000													13	18					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77254172	77254172	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:77254172C>T	ENST00000341514.6	+	5	1689	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R512W	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	512	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.R512W(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAATTTAAGGCGGGAAGAAGG	0.393000													30	2					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523486	42523486	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:42523486G>A	ENST00000360608.5	-	7	1250	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CYP2D6_ENST00000389970.3_Missense_Mutation_p.S379F|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S328F|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	379							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATGTCACGGGATGTCATATG	0.617000													15	31					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67635255	67635255	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:67635255T>C	ENST00000347310.5	+	3	472	c.301T>C	c.(301-303)Tgc>Cgc	p.C101R	IL23R_ENST00000371002.1_Missense_Mutation_p.C101R|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	101					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCTATGTACTGCACTGCTGA	0.358000													25	39					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960919	7960919	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:7960919G>A	ENST00000360759.3	-	1	222	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGTTTAAGGAGATGATGAC	0.473000													45	6					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105474321	105474321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:105474321G>A	ENST00000345080.4	+	3	550	c.347G>A	c.(346-348)gGg>gAg	p.G116E		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	116					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGACCCAAAGGGAAGACACTA	0.373000													38	59					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5685010	5685010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:5685010G>A	ENST00000356134.5	-	25	2685	c.2614C>T	c.(2614-2616)Cag>Tag	p.Q872*	ANO2_ENST00000327087.8_Nonsense_Mutation_p.Q871*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.Q872*	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	876						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGCAGAACTGAACCTCCTGG	0.502000													13	15					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559964	33559964	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:33559964C>T	ENST00000228567.3	-	3	1133	c.837G>A	c.(835-837)agG>agA	p.R279R	SYT10_ENST00000535526.1_Silent_p.R98R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	279	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTTCTTTTTCCTATCTGGAA	0.358000													11	5					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73759368	73759368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr11:73759368G>A	ENST00000334126.7	-	28	5603	c.5377C>T	c.(5377-5379)Ccc>Tcc	p.P1793S	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1793S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1793						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)					AAGGAAAAGGGACTGTATATT	0.418000													18	2					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113233820	113233820	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:113233820C>T	ENST00000401783.2	-	16	3158	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R941Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.R918Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	941					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGAAGGAGTCGTTGCTGATT	0.378000													16	1					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688642	23688642	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:23688642G>A	ENST00000314011.4	-	4	1369	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	ZNF436_ENST00000374608.3_Silent_p.T411T|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCTGTGTGGGTTCTCTGAT	0.473000													17	23					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395580	124395580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:124395580C>T	ENST00000368909.3	+	50	6341	c.6235C>T	c.(6235-6237)Cga>Tga	p.R2079*	DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R799*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1451*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R2069*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.R2079*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1451*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R2069*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2079	CUB 2.				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)				TCTCATTGCTCGAGTTTGTGA	0.522000													21	25					0	0	1	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475845	89475845	+	RNA	SNP	C	C	T	rs112678521		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:89475845C>T	ENST00000484817.1	-	0	356																											AGTAATAAACCCCGACATCCT	0.512000													39	65					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750787	140750787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140750787G>T	ENST00000576222.1	+	1	957	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAATGCCGAAATCATCTA	0.473000													37	49					1.26612e-14	1.28133e-14	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149430368	149430368	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:149430368C>T	ENST00000255992.10	+	18	2721	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P	KRBA1_ENST00000485033.2_Silent_p.P714P|KRBA1_ENST00000319551.8_Silent_p.P714P|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	775	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGAGCTGCCCCCTCCGGAAG	0.677000													86	85					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656684	240656684	+	Missense_Mutation	SNP	G	G	A	rs17854405		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:240656684G>A	ENST00000318160.4	-	2	358	c.92C>T	c.(91-93)cCc>cTc	p.P31L		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	31				P -> H (in Ref. 3; AAH46632).	BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GTAAGGCGAGGGGATGGCGCC	0.637000													10	31					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776624	137776624	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:137776624C>T	ENST00000242375.3	+	3	414	c.372C>T	c.(370-372)gcC>gcT	p.A124A	AKR1D1_ENST00000411726.2_Silent_p.A124A|AKR1D1_ENST00000432161.1_Silent_p.A124A|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	124					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						TACCCATGGCCTTTAAGGTGA	0.507000													39	48					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11535956	11535956	+	Missense_Mutation	SNP	G	G	A	rs140374295	byFrequency	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:11535956G>A	ENST00000262442.3	+	8	1639	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R524Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	524	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCTTGACCGAAGATTGGGG	0.413000													29	22					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955779	38955779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:38955779C>T	ENST00000306658.7	-	1	432	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	123	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCGTATTTTTCATACCAACCC	0.413000													41	55					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38997496	38997496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:38997496C>T	ENST00000355481.4	+	57	8851	c.8720C>T	c.(8719-8721)cCc>cTc	p.P2907L	RYR1_ENST00000360985.3_Missense_Mutation_p.P2907L|RYR1_ENST00000359596.3_Missense_Mutation_p.P2907L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2907	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)	CTGCTGGTCCCCTACGACACG	0.607000													12	22					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228338	140228338	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:140228338G>A	ENST00000378122.3	+	1	982	c.258G>A	c.(256-258)gtG>gtA	p.V86V	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.V86V	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTTTGTGAATTCTCGGA	0.607000													68	119					0	0	1	0	0
NUTM2D	728130	broad.mit.edu	37	10	89127097	89127097	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:89127097C>T	ENST00000412718.1	+	7	2188	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S						NUT family member 2D																		GTAGGGAGCCCCTTCAGATGC	0.632000													9	12					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794329	111794329	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:111794329C>T	ENST00000452346.2	+	15	1948	c.1945C>T	c.(1945-1947)Cat>Tat	p.H649Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.H523Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	649	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						CCACTGTTTTCATGGAAACAG	0.532000													66	66					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811149	140811149	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:140811149G>A	ENST00000509479.2	-	2	2297	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	MAML3_ENST00000398940.1_Missense_Mutation_p.L20F|MAML3_ENST00000327122.5_Missense_Mutation_p.L325F	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	481	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgctgcATGAGTTTGGCCCTT	0.582000													6	7					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:137593429C>T	ENST00000274721.3	-	4	930	c.684G>A	c.(682-684)ggG>ggA	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													33	22					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794688	42794688	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:42794688T>C	ENST00000572681.2	+	11	4563	c.4495T>C	c.(4495-4497)Ttc>Ctc	p.F1499L	CIC_ENST00000575354.2_Missense_Mutation_p.F590L|CIC_ENST00000160740.3_Missense_Mutation_p.F590L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCAACCCGGTTCCTCCCAAT	0.697000			"""Mis, F, S"""		oligodendroglioma								36	67					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113114668	113114668	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:113114668C>T	ENST00000393845.2	-	15	1885	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	WDR52_ENST00000295868.2_Missense_Mutation_p.D607N|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	607										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGCTTATAATCCCTTTCCACT	0.348000													16	33					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043085	102043085	+	Missense_Mutation	SNP	G	G	A	rs147400257		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:102043085G>A	ENST00000549145.1	+	14	1308	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	MYBPC1_ENST00000541119.1_Missense_Mutation_p.R378Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R390Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R390Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R390Q|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R415Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R377Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R415Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R390Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R376Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R364Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R390Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R371Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R291Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R390Q|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	390	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAAGATACCGAATTAGAGTT	0.348000													17	16					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161127057	161127057	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:161127057T>A	ENST00000368003.5	+	3	451	c.205T>A	c.(205-207)Tgc>Agc	p.C69S	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	69					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTTTGGAAAATGCTGGTATAT	0.438000													33	90					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:41962602G>C	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													6	29					0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97490892	97490892	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:97490892C>T	ENST00000305510.3	+	2	1351	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	441	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AGGACGTGATCGAGGAGATCA	0.602000													8	16					0	0	1	0	0
RRP7BP	91695	broad.mit.edu	37	22	42976321	42976321	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:42976321G>A	ENST00000357802.2	-	0	154																											CTCACATAGAGGTAGTGAGAA	0.527000													6	7					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10631855	10631855	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:10631855G>A	ENST00000359543.3	-	4	455	c.246C>T	c.(244-246)ttC>ttT	p.F82F	EMP2_ENST00000536829.1_Silent_p.F82F	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	82					cell proliferation	integral to membrane		p.F82F(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCTGGAGCACGAAGATGAAGA	0.557000													35	60					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911537	67911537	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:67911537T>G	ENST00000358933.5	+	6	1006	c.767T>G	c.(766-768)gTg>gGg	p.V256G	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	256					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGCCCAACAGTGGCCCTGCTG	0.622000													31	34					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102546733	102546733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:102546733G>A	ENST00000370296.2	+	6	1200	c.650G>A	c.(649-651)gGa>gAa	p.G217E	PAX2_ENST00000428433.1_Missense_Mutation_p.G217E|PAX2_ENST00000361791.3_Intron|PAX2_ENST00000355243.3_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000553492.1_Intron			Q02962	PAX2_HUMAN	paired box 2	217					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CACATTAGAGGAGGTGGAGGT	0.522000											OREG0002760	type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay	6	18					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563132	22563132	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:22563132C>T	ENST00000419308.2	-	2	932	c.730G>A	c.(730-732)Gag>Aag	p.E244K	FOXA2_ENST00000319993.4_Missense_Mutation_p.E250K|FOXA2_ENST00000377115.4_Missense_Mutation_p.E244K	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	244					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.E244*(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CAGCCGTTCTCGAACATGTTG	0.667000													15	8					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529305	57529305	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:57529305T>C	ENST00000420713.1	+	4	1250	c.1138T>C	c.(1138-1140)Tac>Cac	p.Y380H		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGAGAAACCCTACACTTGTGA	0.418000													17	16					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212955717	212955717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:212955717G>A	ENST00000366977.3	-	4	514	c.496C>T	c.(496-498)Cca>Tca	p.P166S	NSL1_ENST00000422588.2_Missense_Mutation_p.P166S|NSL1_ENST00000366978.1_Missense_Mutation_p.P63S|NSL1_ENST00000366975.6_Intron|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.P166S	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	166					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GACTCACCTGGATCAGGGTCA	0.343000													35	24					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510905	104510905	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:104510905G>A	ENST00000304883.2	-	5	1472	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	444						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGCAGATTTGGAATTCCTGC	0.468000													46	44					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549926	205549926	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:205549926G>A	ENST00000367147.4	+	3	660	c.567G>A	c.(565-567)agG>agA	p.R189R	MFSD4_ENST00000539267.1_Silent_p.R189R|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	189					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATGTCTCCAGGGTGCTGGGCC	0.617000													32	24					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78522585	78522585	+	Silent	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:78522585T>C	ENST00000397909.2	+	18	4553	c.4380T>C	c.(4378-4380)ccT>ccC	p.P1460P	NAV3_ENST00000266692.7_Silent_p.P1283P|NAV3_ENST00000228327.6_Silent_p.P1460P|NAV3_ENST00000536525.2_Silent_p.P1460P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1460	Ser-rich.					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						ACCAGTCACCTCTGGTTTCCC	0.438000										HNSCC(70;0.22)			26	33					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701916	56701916	+	Silent	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:56701916T>C	ENST00000586855.2	-	5	1081	c.768A>G	c.(766-768)gaA>gaG	p.E256E	ZSCAN5B_ENST00000358992.3_Silent_p.E256E			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	256					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTTCTGGGGTTCCTTCCCCT	0.493000													32	37					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3653441	3653441	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:3653441G>A	ENST00000335312.3	-	7	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000537021.1_Silent_p.G256G|PIP5K1C_ENST00000539785.1_Silent_p.G256G|PIP5K1C_ENST00000589578.1_Silent_p.G256G	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	256	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTAGGTGGAGCCCTTGAGGT	0.602000													26	25					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621443	65621443	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:65621443G>T	ENST00000327987.4	-	14	2500	c.2249C>A	c.(2248-2250)tCc>tAc	p.S750Y		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	750										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCAGCACGGAGAGCTGGGT	0.701000													6	2					0.27861	0.27944	1	1	0
FLYWCH1	84256	broad.mit.edu	37	16	2988248	2988248	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:2988248C>T	ENST00000399667.2	+	10	2351	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.S614F|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.S613F|FLYWCH1_ENST00000570752.1_3'UTR			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	614						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GTGCACGAGTCCTTCCTCTAC	0.647000													5	8					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:108672495C>T	ENST00000261047.3	-	1	247	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000													28	43					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802537	54802537	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:54802537T>G	ENST00000391745.1	-	9	1271	c.955A>C	c.(955-957)Aac>Cac	p.N319H	LILRA3_ENST00000391744.3_Missense_Mutation_p.N238H|LILRA3_ENST00000251390.3_Missense_Mutation_p.N302H					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGAGAGGTTGTATGCACCG	0.682000													13	61					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031559	79031559	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:79031559G>A	ENST00000446378.2	+	2	7002	c.6971G>A	c.(6970-6972)gGt>gAt	p.G2324D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2324						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCACTAATCGGTGAGAAATTG	0.383000													17	21					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45864786	45864786	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:45864786G>A	ENST00000391945.4	-	12	1310	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	ERCC2_ENST00000391940.4_Silent_p.A387A|ERCC2_ENST00000391944.3_Silent_p.A333A|ERCC2_ENST00000485403.2_Silent_p.A387A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	411					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTTACCTTTGGCGTAGGTGC	0.587000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				23	25					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25478179	25478179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:25478179G>A	ENST00000381884.4	-	8	2895	c.2710C>T	c.(2710-2712)Cag>Tag	p.Q904*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.Q904*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	904					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCAAAACCTGGGATCGAGCA	0.373000													23	34					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71357892	71357892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:71357892G>A	ENST00000392650.3	-	39	5398	c.5398C>T	c.(5398-5400)Cgc>Tgc	p.R1800C	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.R1781C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1800	Fibronectin type-III 12.				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						GCTCTGATGCGGAACCTGTAG	0.627000													13	12					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486813	131486813	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:131486813A>C	ENST00000309926.4	+	1	171	c.89A>C	c.(88-90)cAa>cCa	p.Q30P		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	30				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		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)					TGCATGCCCCAAGCAGCCAGC	0.627000													33	51					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541014	178541014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:178541014G>A	ENST00000251582.7	-	22	3591	c.3490C>T	c.(3490-3492)Ccc>Tcc	p.P1164S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1164					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTTTGTAGGGTTCATCTACG	0.547000													36	37					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57707352	57707352	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:57707352G>A	ENST00000333493.4	+	2	339	c.178G>A	c.(178-180)Gac>Aac	p.D60N	GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	60					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCGGGCAGCGACTCCTGCAA	0.567000													16	25					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889739	30889739	+	Silent	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:30889739G>T	ENST00000321897.5	+	18	2405	c.1773G>T	c.(1771-1773)ctG>ctT	p.L591L	VARS2_ENST00000542001.1_Silent_p.L451L|VARS2_ENST00000476162.1_Intron|VARS2_ENST00000541562.1_Silent_p.L621L|VARS2_ENST00000416670.2_Silent_p.L591L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	591					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTTCTGCCCTGTTCCCCTTTT	0.552000													31	46					1.42033e-22	1.44608e-22	1	1	0
CHGB	1114	broad.mit.edu	37	20	5904318	5904318	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:5904318C>T	ENST00000378961.4	+	4	1732	c.1528C>T	c.(1528-1530)Cac>Tac	p.H510Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	510						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGCTCCCATCACACAGCTGA	0.483000													14	41					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434611	201434611	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:201434611C>T	ENST00000357799.4	+	6	797	c.699C>T	c.(697-699)ccC>ccT	p.P233P	SGOL2_ENST00000409203.3_Silent_p.P233P	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	233					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGTACCTCCCAGAGGTGAGA	0.289000													17	18					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60373499	60373499	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:60373499C>T	ENST00000371204.3	-	6	1005	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	321					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)					CAGAGCCCATCGCAGAGTTGT	0.507000													24	29					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085338	5085338	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:5085338A>T	ENST00000399604.4	-	1	2354	c.2214T>A	c.(2212-2214)tgT>tgA	p.C738*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.C738*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGTTTTCTCACATTCTTCAA	0.433000													39	108					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375783	93375783	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:93375783C>T	ENST00000375765.3	-	2	715	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	109					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTCCACGTCCCCTTTGATCT	0.592000													62	7					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101442873	101442873	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:101442873G>A	ENST00000554693.2	+	0	548				SNORD114-19_ENST00000363072.1_RNA																							TACGTGTGTGGAACTCTGAGG	0.318000													30	32					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320800	52320800	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:52320800G>A	ENST00000356297.4	-	17	3484	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PXDNL_ENST00000543296.1_Silent_p.S1128S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATAAGCCGCGGAGAAGAGCC	0.567000													37	34					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143833	142143833	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:142143833G>A	ENST00000390373.2	-	0	162																											GGGTCTTGTCGATACCGATAC	0.493000													83	78					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48769844	48769844	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:48769844G>C	ENST00000314191.2	-	50	6535	c.6479C>G	c.(6478-6480)gCg>gGg	p.A2160G	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2160G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2161					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGTGCTTCGCGTAAGGGCG	0.428000								Non-homologous end-joining					10	10					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897454	11897454	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:11897454C>T	ENST00000346436.6	+	20	2245	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T709T|CLCN6_ENST00000376496.3_Silent_p.T731T	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	731					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACTGGACCATGGAGGAGC	0.562000													31	62					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696612	20696612	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20696612G>A	ENST00000307493.4	-	2	373	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F102F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	102					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						AGGTCTGTGTGAAGACGTTGG	0.562000													30	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13911527	13911527	+	Missense_Mutation	SNP	C	C	T	rs141651575		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:13911527C>T	ENST00000265104.4	-	12	1716	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	538	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAACTCTTCGTAATCTTGG	0.343000									Kartagener syndrome				25	26					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121971176	121971176	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:121971176G>A	ENST00000265922.3	-	7	1427	c.966C>T	c.(964-966)ttC>ttT	p.F322F		NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		322					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						CGATGGTCAGGAAGTGGTTGC	0.512000													30	7					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41519035	41519035	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:41519035C>T	ENST00000396942.1	-	42	5750	c.5667G>A	c.(5665-5667)agG>agA	p.R1889R	RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000352337.4_Silent_p.R1842R|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Silent_p.R139R|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000289734.7_Silent_p.R1864R|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGCCCCCTTCCTGCCCTCTA	0.612000													23	36					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819675	159819675	+	RNA	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:159819675G>A	ENST00000497452.1	-	0	517																											AACGACGTTGGGACTTCTCCA	0.488000													45	49					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15432684	15432684	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:15432684C>T	ENST00000281513.5	-	41	5029	c.5004G>A	c.(5002-5004)agG>agA	p.R1668R	NBAS_ENST00000441750.1_Silent_p.R1548R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1668										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGATAGTTTCCCTTTTATACT	0.448000													5	17					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20638635	20638635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:20638635C>T	ENST00000219151.4	-	11	1466	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ACSM1_ENST00000520010.1_Missense_Mutation_p.D435N|ACSM1_ENST00000307493.4_Missense_Mutation_p.D435N			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	435					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						TTCTCTGGGTCACCCTGCAAA	0.483000													120	170					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39047471	39047471	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:39047471C>T	ENST00000373256.4	+	11	1218	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	392					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCCTTCACCTCCTTCCAGGTG	0.552000													24	9					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990228	70990228	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr14:70990228T>G	ENST00000256389.3	-	2	1641	c.1397A>C	c.(1396-1398)gAa>gCa	p.E466A	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	416	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTCCCCTTCTTCAACCACTAG	0.438000													34	36					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47794973	47794973	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:47794973G>A	ENST00000240364.2	-	6	891	c.812C>T	c.(811-813)cCt>cTt	p.P271L	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	271										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGACATGGAAGGAGAGCTGGC	0.632000													17	35					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990578	137990578	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:137990578G>A	ENST00000409968.1	+	9	2203	c.2025G>A	c.(2023-2025)gaG>gaA	p.E675E	THSD7B_ENST00000413152.2_Silent_p.E644E|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.E675E					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)		CTTGTTCTGAGGACACATTGG	0.517000													12	30					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969007	87969007	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:87969007C>T	ENST00000369577.3	+	8	5703	c.5660C>T	c.(5659-5661)tCt>tTt	p.S1887F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1882F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGCCAGTTTCTGAAATGATA	0.378000													11	34					0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8659749	8659749	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:8659749G>A	ENST00000328794.6	-	3	522	c.346C>T	c.(346-348)Cct>Tct	p.P116S		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	116								p.P116T(1)		breast(1)|endometrium(2)|kidney(1)	4						TGAACGACAGGATCCCCTGTG	0.537000													22	28					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:180582444C>T	ENST00000328275.1	+	1	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473000													47	87					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29632694	29632694	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:29632694G>A	ENST00000278882.3	+	8	889	c.509G>A	c.(508-510)gGa>gAa	p.G170E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G170E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGAAAGATGGATTTTTGCAT	0.318000													15	485					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452019	138452019	+	Silent	SNP	C	C	T	rs141359488		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:138452019C>T	ENST00000344876.4	-	1	1610	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	PCDH18_ENST00000412923.2_Silent_p.Q408Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.Q188Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	408	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATATGTCTTCTGAAGTTTAA	0.378000													16	46					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21516879	21516879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:21516879C>T	ENST00000222584.3	+	4	2079	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	621					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAAGAGGCTTCGAAGAGTTGC	0.458000													21	19					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41007379	41007379	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:41007379C>T	ENST00000372699.3	+	4	486	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372696.3_Missense_Mutation_p.P79S|ZNF684_ENST00000372697.3_Missense_Mutation_p.P79S	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CGAGAGCTCTCCAGGTGAGTG	0.488000													4	9					0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6535057	6535057	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:6535057C>T	ENST00000245817.3	+	3	783	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	249					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						AGCCGGACTCCCTTCACCGAG	0.632000													7	9					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100499	3100499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:3100499G>A	ENST00000336577.4	+	4	850	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	205					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCCATCTCCGGGGACACTCA	0.562000													18	23					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27067869	27067869	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr17:27067869C>T	ENST00000268766.6	+	12	1632	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	533						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S544Y(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GACCACCTCTCCCTGGGGGAG	0.607000													14	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085057	9085057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr19:9085057G>A	ENST00000397910.4	-	1	6961	c.6758C>T	c.(6757-6759)tCc>tTc	p.S2253F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2253	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2253F(2)		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						AGGGGAGGGGGAAAAGGAGAC	0.458000													9	11					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363885	70363885	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:70363885C>T	ENST00000288071.6	+	9	1182	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	DDX19B_ENST00000563206.1_Silent_p.L318L|DDX19B_ENST00000563392.1_Silent_p.L204L|DDX19B_ENST00000355992.3_Silent_p.L282L|DDX19B_ENST00000568625.1_Silent_p.L204L|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Silent_p.L287L|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000393657.2_Silent_p.L204L	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	313	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GTACTATGTCCTGTGCAGCAG	0.522000													53	49					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106214249	106214249	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:106214249G>A	ENST00000369704.3	+	18	2714	c.2580G>A	c.(2578-2580)ggG>ggA	p.G860G		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	860										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GTTTTACTGGGGGCGGATTTC	0.458000													35	38					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228447329	228447329	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:228447329G>A	ENST00000570156.2	+	17	5063	c.4989G>A	c.(4987-4989)ggG>ggA	p.G1663G	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Silent_p.G135G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	648	Ig-like 17.				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)				ACAAGGACGGGAAGAAGCTGA	0.617000													41	30					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984510	128984510	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr5:128984510G>A	ENST00000274487.4	+	13	2150	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	669	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAAGCAAGGGATTGTAATGG	0.343000													18	22					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44531169	44531169	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:44531169G>A	ENST00000542937.1	-	10	1611	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	PLTP_ENST00000354050.4_Silent_p.P287P|PLTP_ENST00000477313.1_Silent_p.P339P|PLTP_ENST00000372431.3_Silent_p.P339P|PLTP_ENST00000420868.2_Silent_p.P244P|PLTP_ENST00000372420.1_Silent_p.P251P			P55058	PLTP_HUMAN	phospholipid transfer protein	339					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGGTGCCAGAGGGCTTGATGG	0.637000													17	38					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422315	115422315	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:115422315C>T	ENST00000337530.6	+	4	2413	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	KIAA1958_ENST00000536272.1_Missense_Mutation_p.S734F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	706										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ACTCAGGTCTCCCGGAGGCTT	0.612000													45	2					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447651	96447651	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:96447651G>A	ENST00000285979.6	+	2	492	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CYP2C18_ENST00000339022.5_Missense_Mutation_p.G98E	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCTGGAAGAGGAAGTTTTCCA	0.443000													39	54					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068422	103068422	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:103068422G>A	ENST00000264260.2	+	12	2170	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	IL18RAP_ENST00000409369.1_Silent_p.V385V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	527	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCATCTCGTGAAAAAAGCTC	0.438000													39	38					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62195239	62195239	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:62195239C>T	ENST00000467148.1	-	8	5005	c.4936G>A	c.(4936-4938)Gcg>Acg	p.A1646T	HELZ2_ENST00000427522.2_Missense_Mutation_p.A1077T	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGGCCGAACGCCGAGCGCTCC	0.687000													5	9					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822687	97822687	+	Silent	SNP	G	G	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:97822687G>T	ENST00000297293.5	+	11	3203	c.2910G>T	c.(2908-2910)tcG>tcT	p.S970S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	970					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCTCCTCGGACTCAACCA	0.552000													80	101					2.02726e-29	2.07026e-29	1	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945352	119945352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:119945352C>T	ENST00000297350.4	-	2	596	c.218G>A	c.(217-219)aGc>aAc	p.S73N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	73					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGTGTGCCAGCTGTCTGTGTA	0.547000													56	49					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346525	139346525	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:139346525G>A	ENST00000413939.2	-	3	442	c.42C>T	c.(40-42)tcC>tcT	p.S14S	NMNAT3_ENST00000339837.5_Intron|NMNAT3_ENST00000296202.7_Silent_p.S14S|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_5'UTR|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000514703.1_Silent_p.S14S|NMNAT3_ENST00000512391.1_Silent_p.S14S	NM_001200047.1	NP_001186976.1	Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	14					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TGGGGTTAAAGGAGCCACAGG	0.547000													9	10					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346756	102346756	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:102346756C>T	ENST00000328882.4	+	1	855	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGCAGTTATCACTCCCGTTT	0.358000													25	31					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335410	335410	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:335410G>A	ENST00000219406.6	+	6	912	c.894G>A	c.(892-894)ggG>ggA	p.G298G	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.G295G	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	298					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGCTTTGGGGAGGCAGCTC	0.672000													6	10					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847066	107847066	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:107847066C>T	ENST00000285311.3	-	2	968	c.263G>A	c.(262-264)aGg>aAg	p.R88K	DKK2_ENST00000510463.1_Missense_Mutation_p.R42K|DKK2_ENST00000513208.1_5'UTR	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	88	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGGCAATACCTCCCAACTTC	0.512000													28	30					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956541	188956541	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr3:188956541G>A	ENST00000345063.3	+	4	489	c.322G>A	c.(322-324)Gag>Aag	p.E108K	TPRG1_ENST00000433971.1_Missense_Mutation_p.E108K|TPRG1-AS2_ENST00000425454.1_RNA	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	108										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTGGAACAATGAGAAGGAGAG	0.423000													24	28					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311113	117311113	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:117311113G>A	ENST00000369478.3	+	5	872	c.764G>A	c.(763-765)aGa>aAa	p.R255K		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	255					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGAGCCCACAGAGTAGCTACT	0.473000													6	19					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164175	139164175	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr8:139164175G>A	ENST00000395297.1	-	13	2713	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	848										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)			TTTCCCTTTGGGGATGTCTAT	0.488000										HNSCC(54;0.14)			13	15					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10025188	10025188	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr20:10025188C>T	ENST00000378380.3	+	4	1022	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.F231F|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GAGGCTTTTTCGATGTAATAA	0.358000													52	40					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6122811	6122811	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:6122811C>T	ENST00000261405.5	-	32	5710	c.5455_splice	c.e32-1	p.R1819_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1819	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)	CACTGTCACTCCTAGAGTTAG	0.507000													12	19					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398140	111398140	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:111398140G>A	ENST00000265162.5	+	1	912	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	190					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)	TCCTGACCATGGAGTTCGCCG	0.517000													31	40					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19440498	19440498	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:19440498G>A	ENST00000375267.2	-	76	11272	c.11269C>T	c.(11269-11271)Cgg>Tgg	p.R3757W	UBR4_ENST00000375254.3_Missense_Mutation_p.R3757W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3733W|UBR4_ENST00000375217.2_Missense_Mutation_p.R3750W|UBR4_ENST00000375218.3_Missense_Mutation_p.R172W			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3757					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCTGTGGCCGGTGTCCCATC	0.512000											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	37					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184629671	184629671	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:184629671C>T	ENST00000334690.6	+	29	3503	c.3301C>T	c.(3301-3303)Cct>Tct	p.P1101S	TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.P707S	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	1101																	GCTTAGATTTCCTAACTTCAC	0.393000													16	15					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299363	158299363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:158299363C>T	ENST00000368168.3	-	4	790	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	228	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGGTAGAATCCTGAGACATG	0.587000													42	72					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28900153	28900153	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr16:28900153G>A	ENST00000395503.4	+	9	1158	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	ATP2A1_ENST00000357084.3_Missense_Mutation_p.R325Q|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R200Q	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	325					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGTACCCGTCGGATGGCAAAG	0.602000													50	61					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539198	6539198	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:6539198C>T	ENST00000263125.5	-	6	657	c.558G>A	c.(556-558)caG>caA	p.Q186Q	PRKCQ_ENST00000539722.1_Silent_p.Q61Q|PRKCQ_ENST00000397176.2_Silent_p.Q186Q	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	186					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACTGGTAGCCCTGTTTGTTCA	0.388000													44	42					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628409	173628409	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:173628409C>T	ENST00000333279.2	-	2	209	c.149G>A	c.(148-150)gGt>gAt	p.G50D		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	66										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTTCTGCAAACCCTCTACATC	0.453000													12	25					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053779	97053779	+	Splice_Site	SNP	T	T	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:97053779T>C	ENST00000326771.2	+	5	716	c.334_splice	c.e5-1	p.G112_splice	FHL5_ENST00000541107.1_Splice_Site_p.G112_splice	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	112	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGAGTACAGGTTCCCGCAAAA	0.348000													15	14					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464422	247464422	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:247464422G>A	ENST00000294753.4	-	9	1627	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	ZNF496_ENST00000366498.2_Missense_Mutation_p.S424F|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	388					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTCCGGTGGGAGGCGGGGAG	0.632000													19	47					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180165422	180165422	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:180165422C>T	ENST00000367602.3	+	12	1568	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	QSOX1_ENST00000367600.5_Silent_p.F498F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	498	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCCCCAGTTCCCCAAGGTGC	0.597000													74	57					0	0	1	0	0
VPREB3	29802	broad.mit.edu	37	22	24095102	24095102	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:24095102C>T	ENST00000248948.3	-	2	437	c.333G>A	c.(331-333)gcG>gcA	p.A111A	VPREB3_ENST00000398465.3_Silent_p.A95A	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	111	Ig-like.					endoplasmic reticulum				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				AGTAGTAATCCGCGTCGTCTT	0.602000													17	26					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188925	6188925	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:6188925C>T	ENST00000262450.3	-	23	3691	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K	CHD5_ENST00000378021.1_Missense_Mutation_p.E55K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1198					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)		AAGAGTTCCTCCGTGCCGAAC	0.652000													13	18					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chrX:83400549C>T	ENST00000262752.2	-	6	445	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_ENST00000543399.1_Silent_p.G146G	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000													6	1					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159019358	159019358	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:159019358C>T	ENST00000295809.7	+	9	1889	c.1634C>T	c.(1633-1635)cCa>cTa	p.P545L	IFI16_ENST00000368131.4_Intron|IFI16_ENST00000368132.3_Missense_Mutation_p.P489L|IFI16_ENST00000340979.6_Intron|IFI16_ENST00000430894.2_Missense_Mutation_p.P493L|IFI16_ENST00000359709.3_Missense_Mutation_p.P489L|IFI16_ENST00000448393.2_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	545					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CAGATGCCTCCATCAACACCA	0.488000													25	74					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70641765	70641765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr10:70641765C>T	ENST00000298596.6	+	2	445	c.362C>T	c.(361-363)cCt>cTt	p.P121L	STOX1_ENST00000421961.2_Missense_Mutation_p.P11L|STOX1_ENST00000399162.2_Missense_Mutation_p.P121L|STOX1_ENST00000399169.4_Missense_Mutation_p.P121L|STOX1_ENST00000399165.4_Missense_Mutation_p.P121L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAGTTCGTACCTTTGGGTGAA	0.378000													30	38					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846060	130846060	+	Silent	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr12:130846060C>T	ENST00000245255.3	+	16	2156	c.1884C>T	c.(1882-1884)atC>atT	p.I628I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	628	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTGATGATCGTTGGCATCG	0.418000													18	38					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844264	131844264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:131844264G>A	ENST00000359827.3	-	25	5590	c.4628C>T	c.(4627-4629)tCc>tTc	p.S1543F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1543F			Q9HCM2	PLXA4_HUMAN	plexin A4	1543						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						GGGCCGGTGGGAGCAAGGCAC	0.557000													76	264					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058242	152058242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:152058242C>T	ENST00000368806.1	-	3	1980	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	639							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTTTGGTCCCTGGGCCTTG	0.547000													75	62					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079275	1079275	+	Silent	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:1079275G>A	ENST00000308624.5	+	2	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_ENST00000407292.1_Silent_p.T48T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	48					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468000													29	32					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212290	54212290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:54212290G>A	ENST00000259782.4	+	6	970	c.874G>A	c.(874-876)Gct>Act	p.A292T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	292					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CATCGATAGGGCTTGGTGGTA	0.433000													11	19					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713811	143713811	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:143713811C>T	ENST00000264170.4	+	6	733	c.475C>T	c.(475-477)Ctt>Ttt	p.L159F	KYNU_ENST00000375773.2_Missense_Mutation_p.L159F|KYNU_ENST00000409512.1_Missense_Mutation_p.L159F	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	159					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATATAAAATTCTTCTAGAAGC	0.313000													14	18					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159554557	159554557	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr4:159554557G>A	ENST00000307765.5	+	12	1151	c.899_splice	c.e12-1	p.L300_splice	RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000470033.1_Splice_Site_p.L267_splice|RXFP1_ENST00000448688.2_Splice_Site_p.L195_splice|RXFP1_ENST00000460056.2_Splice_Site_p.L219_splice	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	300						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTTCTCCAGGGATTTAGGAA	0.338000													10	22					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													2	4	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	39	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								10	188	---	---	---	---					
SLC35F5	80255	broad.mit.edu	37	2	114500277	114500277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr2:114500277delA	ENST00000245680.2	-	7	1155	c.742delT	c.(742-744)gcfs	p.C248fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	248					transport	integral to membrane		p.C248fs*22(2)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAG	0.343													7	67	---	---	---	---					
PHIP	55023	broad.mit.edu	37	6	79655836	79655836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr6:79655836delA	ENST00000275034.4	-	38	4679	c.4512delT	c.(4510-4512)gtfs	p.V1504fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1504					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTGGTTCGAACCACAGAAC	0.433													30	34	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr7:100369721delT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532													3	5	---	---	---	---					
KLHL9	55958	broad.mit.edu	37	9	21333565	21333565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr9:21333565delT	ENST00000359039.4	-	1	1814	c.1294delA	c.(1294-1296)tgfs	p.M432fs	KLHL9_ENST00000537938.1_Frame_Shift_Del_p.M364fs			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	432					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GGTTCACTCATTTTTGCAACA	0.443													80	16	---	---	---	---					
PROZ	8858	broad.mit.edu	37	13	113817346	113817346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr13:113817346delC	ENST00000342783.4	+	5	356	c.349delC	c.(349-351)ccfs	p.P117fs	PROZ_ENST00000375547.2_Frame_Shift_Del_p.P95fs	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	95	EGF-like 1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	CATCTCCCAGCCCTGCCTCCA	0.682													2	4	---	---	---	---					
SH2D7	646892	broad.mit.edu	37	15	78390841	78390842	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr15:78390841_78390842insC	ENST00000328828.5	+	4	548_549	c.548_549insC	c.(547-549)accfs	p.T183fs	SH2D7_ENST00000409568.2_Frame_Shift_Ins_p.T47fs	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	183										endometrium(2)|kidney(2)|lung(3)	7						AAGGCCGCCAGCCCCCGCTCTT	0.614													23	21	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114749	23114749	+	RNA	DEL	T	T	-	rs74864698		TCGA-D3-A51R-06A-11D-A25O-08	TCGA-D3-A51R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543E0957-470A-4E9B-8E05-25851B3F7FB1	12AECD87-A8A3-4E2A-BF4A-D9D20E763434	g.chr22:23114749delT	ENST00000390313.2	+	0	55																											CATCCTCTCCTTTTTTTTTTT	0.498													3	6	---	---	---	---					
