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
AHNAK	79026	broad.mit.edu	37	11	62288113	62288113	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62288113C>A	ENST00000378024.4	-	5	14050	c.13776G>T	c.(13774-13776)aaG>aaT	p.K4592N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4592					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATAGAGATCTTCGGTGCCT	0.498000													36	53					4.65686e-17	6.22576e-17	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14106775	14106775	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:14106775G>A	ENST00000235372.7	+	8	3341	c.2485G>A	c.(2485-2487)Ggt>Agt	p.G829S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G628S|PRDM2_ENST00000413440.1_Missense_Mutation_p.G628S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G829S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	829						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTATCCAGCGGTGTCAAACA	0.463000													21	60					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7817025	7817025	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7817025C>A	ENST00000338316.4	+	23	3019	c.2930C>A	c.(2929-2931)gCt>gAt	p.A977D	ADCY2_ENST00000537121.1_Missense_Mutation_p.A797D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	977					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTGGAGTTTGCTTTTGCCCTG	0.507000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	51					5.35267e-07	6.09026e-07	1	1	0
TCF7	6932	broad.mit.edu	37	5	133481907	133481907	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:133481907A>G	ENST00000321603.6	+	10	1287	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	TCF7_ENST00000520958.1_Intron|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000395029.1_Intron|TCF7_ENST00000378560.4_3'UTR|TCF7_ENST00000342854.5_Intron			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	0					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTTCACTATTCCTAGGAG	0.512000											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	129					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238268776	238268776	+	Silent	SNP	G	G	A	rs34390834	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238268776G>A	ENST00000295550.4	-	17	6689	c.6237C>T	c.(6235-6237)aaC>aaT	p.N2079N	COL6A3_ENST00000353578.4_Silent_p.N1873N|COL6A3_ENST00000347401.3_Silent_p.N1878N|COL6A3_ENST00000472056.1_Silent_p.N1472N|COL6A3_ENST00000346358.4_Silent_p.N1879N|COL6A3_ENST00000409809.1_Silent_p.N1873N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2079	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGAGTGCCGTTCACACCAG	0.612000													20	31					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1279584G>A	ENST00000447027.1	+	43	16647	c.16589G>A	c.(16588-16590)gGc>gAc	p.G5530D	MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627000													5	16					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843543	2843543	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2843543C>T	ENST00000380445.3	+	13	1366	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.R118W|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	432					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAATGCTGTTCGGGACTATCA	0.587000													72	105					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15652380	15652380	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15652380C>A	ENST00000281171.4	+	4	843	c.513C>A	c.(511-513)ttC>ttA	p.F171L	PTPRO_ENST00000348962.2_Missense_Mutation_p.F171L|PTPRO_ENST00000543886.1_Missense_Mutation_p.F171L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	171	Fibronectin type-III 2.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCACAGATTTCTTTAAGGGAA	0.328000													23	26					9.57634e-11	1.18295e-10	1	1	0
IGHG3	0	broad.mit.edu	37	14	106236046	106236046	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106236046G>A	ENST00000390551.2	-	0	757																											CTTTGTTGGAGACCTTGCACT	0.602000													118	250					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555741	15555741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:15555741C>A	ENST00000281513.5	-	25	2891	c.2866G>T	c.(2866-2868)Gaa>Taa	p.E956*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956										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						ACTAAATATTCTTTTAATAGC	0.368000													24	41					1.55469e-16	2.07108e-16	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71425342	71425342	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425342G>T	ENST00000373657.1	-	3	3508	c.2906C>A	c.(2905-2907)tCt>tAt	p.S969Y	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1092Y			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1092					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)					AGAAGCCAGAGATCTTCTAGA	0.418000													21	54					2.37509e-13	3.04217e-13	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20944632	20944632	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944632A>C	ENST00000261383.3	-	62	12194	c.12195T>G	c.(12193-12195)taT>taG	p.Y4065*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4065					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)		CTGGACACACATAGATGTCCT	0.512000													12	123					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417440	28417440	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28417440G>A	ENST00000394835.3	+	20	3877	c.3683_splice	c.e20-1	p.D1229_splice	EFCAB5_ENST00000320856.5_Splice_Site_p.D1105_splice|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1229							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGATTTCAGAGATTTCCTCTT	0.398000													18	29					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30740639	30740639	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30740639A>G	ENST00000263056.1	+	6	1535	c.839A>G	c.(838-840)gAt>gGt	p.D280G	MAP3K8_ENST00000375321.1_Missense_Mutation_p.D280G|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D280G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	280	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATGACCGAAGATGTCTATTTT	0.328000													20	35					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901190	129901190	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129901190C>T	ENST00000368654.3	-	13	9289	c.8914G>A	c.(8914-8916)Gga>Aga	p.G2972R	MKI67_ENST00000368653.3_Missense_Mutation_p.G2612R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2972					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACCACGTCTCCCACGGGTTCT	0.498000													35	85					0	0	1	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373597	110373597	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110373597G>A	ENST00000356454.3	+	1	1687	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	511																	ACCTGTTAAAGGCCACTCGCC	0.483000													10	31					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140773529	140773529	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140773529C>A	ENST00000398604.2	+	1	1149	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAAGTTGTCTGTTACACAC	0.363000													16	26					2.32078e-09	2.7896e-09	1	1	0
ATXN3L	92552	broad.mit.edu	37	X	13337045	13337045	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337045C>T	ENST00000380622.2	-	1	1473	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	337					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTGTCGACAGCGGCCTGTACT	0.393000													37	38					0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30939819	30939819	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30939819A>C	ENST00000338343.4	+	6	1046	c.659A>C	c.(658-660)aAg>aCg	p.K220T	FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Missense_Mutation_p.K240T|FBXL19_ENST00000562319.1_Missense_Mutation_p.K220T|FBXL19_ENST00000565690.1_Splice_Site_p.K147_splice			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	240	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACCTGAAGAAGGTGGGTGGA	0.627000													12	15					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126194402	126194402	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126194402T>A	ENST00000287437.3	+	5	538	c.322T>A	c.(322-324)Ttt>Att	p.F108I	NSMCE2_ENST00000522563.1_Missense_Mutation_p.F108I|NSMCE2_ENST00000517315.1_Missense_Mutation_p.F48I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	108				F -> L (in Ref. 1; BAB71338).	DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGAGAAGAAATTTTTGGCTTT	0.294000													4	72					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975624	44975624	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975624C>A	ENST00000340446.4	-	1	858	c.567G>T	c.(565-567)aaG>aaT	p.K189N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	189						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCAAAAATCTTTCCCGACG	0.378000													35	92					3.90053e-15	5.12206e-15	1	1	0
DNER	92737	broad.mit.edu	37	2	230411675	230411675	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230411675C>T	ENST00000341772.4	-	5	1115	c.981G>A	c.(979-981)acG>acA	p.T327T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	327	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGACGGCTTCGTGGTGCATT	0.453000													45	80					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914842	119914842	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:119914842C>T	ENST00000331113.4	+	1	1121	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	52					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)					GCACCCGCTTCCAGACGTGGC	0.567000													93	184					0	0	1	0	0
PCDHGA12	0	broad.mit.edu	37	5	140811516	140811516	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140811516C>A	ENST00000252085.3	+	1	1332	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y	PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAAATCTTACGGAAAT	0.413000													22	39					5.26018e-13	6.70247e-13	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	G	A	rs142510377	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76728558G>A	ENST00000369950.3	-	7	873	c.684C>T	c.(682-684)ttC>ttT	p.F228F	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	228					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAACACAGCGAATTCTGTTT	0.413000													11	27					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110062741	110062741	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110062741C>A	ENST00000230124.3	+	8	994	c.870C>A	c.(868-870)aaC>aaA	p.N290K	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	290	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAGGTGCAAACTGTGAGGTAA	0.383000													30	44					7.26314e-15	9.49782e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179640269	179640269	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179640269C>T	ENST00000589042.1	-	28	6546	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	TTN_ENST00000342175.6_Missense_Mutation_p.E2062K|TTN_ENST00000359218.5_Missense_Mutation_p.E2062K|TTN_ENST00000342992.6_Missense_Mutation_p.E2108K|TTN_ENST00000360870.5_Missense_Mutation_p.E2108K|TTN_ENST00000460472.2_Missense_Mutation_p.E2062K|TTN_ENST00000591111.1_Missense_Mutation_p.E2108K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1871	Ig-like 10.						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)			CATTCACATTCGGGGTCTGGT	0.473000													23	31					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580149	77580149	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77580149G>A	ENST00000361786.2	+	4	1005	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	230										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGCTCTGCAGGGTGTGCCCTC	0.617000													23	47					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118465	68118465	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68118465T>C	ENST00000380035.2	+	2	357	c.299T>C	c.(298-300)cTg>cCg	p.L100P	SKOR1_ENST00000554054.1_Missense_Mutation_p.L72P|SKOR1_ENST00000554240.1_Missense_Mutation_p.L61P|SKOR1_ENST00000341418.5_Missense_Mutation_p.L286P|SKOR1_ENST00000389002.1_Missense_Mutation_p.L91P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	100					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCTATGCCTGGCGCAGATC	0.627000													6	76					0	0	1	0	0
JMJD8	339123	broad.mit.edu	37	16	733859	733859	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:733859A>G	ENST00000293882.4	-	3	435		c.e3+1		JMJD8_ENST00000454700.1_Splice_Site|JMJD8_ENST00000562824.1_Splice_Site|JMJD8_ENST00000562111.1_Splice_Site|JMJD8_ENST00000412368.2_Splice_Site			Q96S16	JMJD8_HUMAN	jumonji domain containing 8											breast(1)	1						GCACGCGCTCACCGAGTTGTC	0.731000													4	8					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90124880	90124880	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:90124880G>T	ENST00000407825.1	-	9	1032	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	PRDM7_ENST00000325921.6_Missense_Mutation_p.S132Y|PRDM7_ENST00000449207.2_Missense_Mutation_p.F432L			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	340						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTTGACTGAGAAATTTTTGA	0.463000													36	85					3.3946e-10	4.15224e-10	1	1	0
OXTR	5021	broad.mit.edu	37	3	8809319	8809319	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8809319G>A	ENST00000316793.3	-	3	1179	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	185					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CCCAGCAGTCGAAGACGCCGT	0.662000													43	54					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83816998	83816998	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:83816998C>A	ENST00000566620.1	+	13	2345	c.2055C>A	c.(2053-2055)tcC>tcA	p.S685S	CDH13_ENST00000428848.3_Silent_p.S646S|CDH13_ENST00000268613.10_Silent_p.S732S	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	685	Cadherin 5.				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)		GCAGGAATTCCAAAGTGGACT	0.532000													8	76					0.0381472	0.0387537	1	1	0
CYP4F2	8529	broad.mit.edu	37	19	15997104	15997104	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15997104C>A	ENST00000221700.5	-	8	1028	c.933G>T	c.(931-933)aaG>aaT	p.K311N	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Missense_Mutation_p.K311N	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	311					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGATAACTTCTTCCCGTCTT	0.532000													97	158					9.72315e-31	1.38941e-30	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121410023	121410023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121410023C>A	ENST00000393667.3	-	14	8298	c.8188G>T	c.(8188-8190)Gaa>Taa	p.E2730*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E2725*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2725					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTTATTTTCTTTGGTGACC	0.398000													61	116					2.50483e-33	3.59302e-33	1	1	0
CCDC114	93233	broad.mit.edu	37	19	48800598	48800598	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48800598T>C	ENST00000315396.7	-	14	2330	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	550										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTCTGCTAGTCTTGTGGCTC	0.647000													7	92					0	0	1	0	0
LPPR4	0	broad.mit.edu	37	1	99771407	99771407	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771407G>A	ENST00000370185.3	+	7	1630	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.R220Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R320Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		378							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCCTCAACCGAAACCACAGA	0.458000													26	51					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078180	111078180	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111078180G>T	ENST00000262839.2	-	7	2783	c.1865C>A	c.(1864-1866)gCt>gAt	p.A622D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	622					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						GTTCATCATAGCAATCAGCAT	0.448000													85	163					7.14593e-30	1.01984e-29	1	1	0
PLCXD3	345557	broad.mit.edu	37	5	41313764	41313764	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41313764G>T	ENST00000377801.3	-	3	995	c.921C>A	c.(919-921)gtC>gtA	p.V307V	PLCXD3_ENST00000328457.3_Silent_p.V307V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	307					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGAGCTTTATGACAGTGCTGA	0.448000													15	32					7.93312e-07	8.98086e-07	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79520871	79520871	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79520871T>C	ENST00000376718.3	-	1	132	c.9A>G	c.(7-9)gaA>gaG	p.E3E	PRUNE2_ENST00000376713.3_Silent_p.E3E|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTGCAAAAATTCTTCCATGT	0.557000													35	48					0	0	1	0	0
REG1P	0	broad.mit.edu	37	2	79364086	79364086	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:79364086G>T	ENST00000444841.1	-	0	285																											ACTCAGTGAAGGAGGAAAGTG	0.498000													11	46					3.86212e-05	4.21111e-05	1	1	0
TRA2A	29896	broad.mit.edu	37	7	23556145	23556145	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23556145G>A	ENST00000297071.4	-	3	389	c.173C>T	c.(172-174)tCg>tTg	p.S58L	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	58	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCTTGACCTCGACCTTTGAGA	0.398000													13	30					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88955947	88955947	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88955947A>C	ENST00000375961.2	-	7	1322	c.1108T>G	c.(1108-1110)Tta>Gta	p.L370V	ZCCHC6_ENST00000375948.1_Missense_Mutation_p.L8V|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.L370V|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	370					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGAACAAGTAAGAGGACATCT	0.313000													14	52					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470017	70470017	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70470017C>T	ENST00000373978.1	-	5	898	c.821G>A	c.(820-822)aGa>aAa	p.R274K	ZMYM3_ENST00000373984.3_Silent_p.Q372Q|ZMYM3_ENST00000353904.2_Silent_p.Q370Q|ZMYM3_ENST00000314425.5_Silent_p.Q370Q|ZMYM3_ENST00000373981.1_Silent_p.Q370Q|ZMYM3_ENST00000373998.1_Silent_p.Q370Q|ZMYM3_ENST00000373988.1_Silent_p.Q372Q|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.Q372Q			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	178					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGAACCAGTCTGCGCCACAA	0.577000													19	19					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587551	55587551	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55587551C>A	ENST00000333976.4	+	1	466	c.446C>A	c.(445-447)tCc>tAc	p.S149Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGTGGGATCCTATGCCTGG	0.473000													58	113					7.10663e-31	1.01603e-30	1	1	0
ZC3H8	84524	broad.mit.edu	37	2	112991726	112991726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112991726T>G	ENST00000409573.1	-	5	721	c.592A>C	c.(592-594)Aaa>Caa	p.K198Q	ZC3H8_ENST00000272570.5_Missense_Mutation_p.K198Q			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	198					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGAAAATATTTACAAATTTGT	0.308000													6	6					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128753	141128753	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141128753C>A	ENST00000389484.3	-	70	11841	c.10870G>T	c.(10870-10872)Gat>Tat	p.D3624Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3624	LDL-receptor class A 28.				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)		tttaCCTCATCTGAACCATCA	0.299000										TSP Lung(27;0.18)			8	10					0.00448238	0.00465112	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48315509	48315509	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:48315509G>T	ENST00000435803.1	+	17	6270	c.6246G>T	c.(6244-6246)atG>atT	p.M2082I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2082					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCTGAAATGAACAAAGGAA	0.368000													6	37					0.0477658	0.0484551	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133602	91133602	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:91133602A>C	ENST00000373094.1	+	2	3208	c.2363A>C	c.(2362-2364)aAa>aCa	p.K788T	PCDH11X_ENST00000361655.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K788T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K788T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	788	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGTGCGCAAAAGCACTGAA	0.463000													5	167					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207648459	207648459	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207648459T>C	ENST00000367057.3	+	14	2803	c.2614T>C	c.(2614-2616)Tat>Cat	p.Y872H	CR2_ENST00000458541.2_Missense_Mutation_p.Y786H|CR2_ENST00000367058.3_Missense_Mutation_p.Y813H|CR2_ENST00000367059.3_Missense_Mutation_p.Y813H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	938	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGACATAGTGTATGTTGACTG	0.438000													40	53					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64022496	64022496	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64022496C>T	ENST00000373789.3	-	2	241	c.145G>A	c.(145-147)Gat>Aat	p.D49N	RTKN2_ENST00000395265.1_Missense_Mutation_p.D49N|RTKN2_ENST00000395260.3_Missense_Mutation_p.D49N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	49					signal transduction	intracellular		p.D49Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAAACTTGATCTTTCTGAGTG	0.363000													12	34					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361697	188361697	+	Missense_Mutation	SNP	C	C	T	rs137865208		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188361697C>T	ENST00000233156.3	-	3	524	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TFPI_ENST00000392365.1_Missense_Mutation_p.R77Q|TFPI_ENST00000409676.1_Missense_Mutation_p.R77Q|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.R77Q	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	77	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTCGCACTGTCGAGTGAAAAT	0.378000													16	36					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146058848	146058848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:146058848C>A	ENST00000454497.2	-	21	3021	c.2884G>T	c.(2884-2886)Gaa>Taa	p.E962*	OTUD4_ENST00000447906.2_Nonsense_Mutation_p.E1027*|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1026							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTTCATTTTCATCTTCTGAA	0.408000													55	112					1.0331e-37	1.4876e-37	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145393376	145393376	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:145393376C>A	ENST00000511217.1	+	4	863	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	SH3RF2_ENST00000359120.4_Missense_Mutation_p.L271M			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	271							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAAAAACCTGTCCCTGGT	0.537000													27	70					2.44723e-14	3.18537e-14	1	1	0
RYR1	6261	broad.mit.edu	37	19	38985162	38985162	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38985162G>A	ENST00000355481.4	+	39	6576	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M	RYR1_ENST00000360985.3_Missense_Mutation_p.V2149M|RYR1_ENST00000359596.3_Missense_Mutation_p.V2149M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2149	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)	ACCGTCCTCCGTGGAAGACAC	0.657000													26	39					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126056266	126056266	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126056266A>G	ENST00000318410.7	-	22	3087	c.2738T>C	c.(2737-2739)aTg>aCg	p.M913T	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.M765T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	913					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GACAGCATTCATGAGGGTTTT	0.413000													12	31					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44127980	44127980	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:44127980C>T	ENST00000262419.6	-	7	2409	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	KANSL1_ENST00000432791.1_Missense_Mutation_p.E647K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E4K|KANSL1_ENST00000575318.1_Missense_Mutation_p.E647K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E647K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E647K	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	647						MLL1 complex	protein binding										TAGTGAATTTCGGGAGGCATG	0.502000													19	29					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77329411	77329411	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77329411C>T	ENST00000558012.1	+	15	1634	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.A363V|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.A362V|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.A379V	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	382	SH3.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCTGTCCGCGGGAGACATC	0.627000													19	42					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97618005	97618005	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97618005C>A	ENST00000182096.4	+	11	2089	c.2025C>A	c.(2023-2025)ttC>ttA	p.F675L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCAAAAGTTCTTCTGTGGAG	0.333000													20	28					1.33834e-09	1.61283e-09	1	1	0
NR1D2	9975	broad.mit.edu	37	3	24018775	24018775	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:24018775A>G	ENST00000312521.4	+	8	1924	c.1605A>G	c.(1603-1605)gcA>gcG	p.A535A	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	535					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TCATTCGTGCACTAAGGACCT	0.388000													8	17					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207024682	207024682	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207024682G>A	ENST00000236957.5	+	2	100		c.e2-1		EEF1B2_ENST00000392221.1_5'UTR|EEF1B2_ENST00000392222.2_5'UTR	NM_021121.3	NP_066944.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2							cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CTGCTCCCCAGCTCTCGGATA	0.567000													47	86					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102729915	102729915	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102729915A>C	ENST00000361847.2	-	4	482	c.251T>G	c.(250-252)cTt>cGt	p.L84R	MOK_ENST00000524214.1_Missense_Mutation_p.L54R|MOK_ENST00000522874.1_Missense_Mutation_p.L84R|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	84	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										CATGTCCATAAGTTCACATAT	0.303000													8	18					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.88_splice	c.e2+1	p.L29_splice	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29_splice|LILRA5_ENST00000432233.3_Splice_Site_p.L29_splice|LILRA5_ENST00000346508.3_Splice_Site_p.L29_splice	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response	extracellular region|integral to membrane	receptor activity	p.L29L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602000													14	49					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925385	25925385	+	Missense_Mutation	SNP	G	G	A	rs146387652		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25925385G>A	ENST00000356865.6	-	20	3860	c.3749C>T	c.(3748-3750)gCg>gTg	p.A1250V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1250					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A1250V(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCACAAGACGCATTGTAAAT	0.493000													51	83					0	0	1	0	0
RP4-777D9.2	0	broad.mit.edu	37	20	21142620	21142620	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:21142620G>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGCATGAGAGATTTCAGTAC	0.473000													26	35					1.66031e-10	2.0393e-10	1	1	0
MAP7	9053	broad.mit.edu	37	6	136742892	136742892	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136742892C>T	ENST00000354570.3	-	2	523	c.113G>A	c.(112-114)cGc>cAc	p.R38H	MAP7_ENST00000438100.2_Missense_Mutation_p.R60H|MAP7_ENST00000454590.1_Missense_Mutation_p.R60H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R23H	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	38					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)		AGAGGCAGGGCGGCTGGAGGC	0.373000													21	40					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841560	154841560	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154841560C>A	ENST00000271915.3	-	1	1196	c.881G>T	c.(880-882)gGa>gTa	p.G294V		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	299						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AACAACAATTCCAAACATCCC	0.433000													39	100					6.33695e-27	8.97322e-27	1	1	0
EEF1E1	9521	broad.mit.edu	37	6	8090502	8090502	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:8090502A>G	ENST00000379715.5	-	3	357	c.301T>C	c.(301-303)Tat>Cat	p.Y101H	EEF1E1_ENST00000507463.1_Missense_Mutation_p.Y101H|EEF1E1_ENST00000429723.2_Missense_Mutation_p.Y101H|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.Y101H	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	101	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TCTTCAAGATATGAATTAAGA	0.249000													12	14					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606440	7606440	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7606440C>T	ENST00000316024.5	+	9	3746	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	WRAP53_ENST00000457584.2_Silent_p.G466G|WRAP53_ENST00000396463.2_Silent_p.G466G|WRAP53_ENST00000431639.2_Silent_p.G466G|WRAP53_ENST00000534050.1_Silent_p.G433G			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	466					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCACCAATGGCGTGAGGTCCT	0.592000													14	48					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449618	85449618	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85449618A>G	ENST00000393217.2	+	8	1108	c.1047A>G	c.(1045-1047)agA>agG	p.R349R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	349	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		aagaagagagaaaaaagcaaa	0.343000													4	11					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118556647	118556647	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118556647C>A	ENST00000311085.8	+	36	8165	c.8085C>A	c.(8083-8085)ttC>ttA	p.F2695L	DMXL1_ENST00000539542.1_Missense_Mutation_p.F2716L|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2695										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAAGATTTCTTGGTTATAC	0.343000													16	27					1.15088e-07	1.32965e-07	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36955610	36955610	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:36955610C>A	ENST00000282516.8	+	3	600	c.101C>A	c.(100-102)gCt>gAt	p.A34D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A34D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	34					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCTTTACCTGCTACAACTACA	0.398000													15	34					1.33834e-09	1.61283e-09	1	1	0
ZNF354B	117608	broad.mit.edu	37	5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343000													4	42					0.00024832	0.000265255	1	1	0
SLC45A3	85414	broad.mit.edu	37	1	205632665	205632665	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:205632665C>T	ENST00000367145.3	-	3	549	c.254G>A	c.(253-255)cGc>cAc	p.R85H		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	85					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAGGGCCGGCGGCGGCCATA	0.647000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								12	35					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34250704	34250704	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34250704G>A	ENST00000536252.1	+	7	1713	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	UBAP1_ENST00000543944.1_Missense_Mutation_p.D475N|UBAP1_ENST00000379186.4_Missense_Mutation_p.D378N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D503N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D439N|UBAP1_ENST00000297661.4_Missense_Mutation_p.D439N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D439N	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	439						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GAAGGGCTTCGACCCTCTTTT	0.468000													21	47					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99848627	99848627	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99848627G>A	ENST00000369239.5	-	12	2411	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	PNISR_ENST00000438806.1_Missense_Mutation_p.S736F	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	736	Ser-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATCCTGTCTAGAATCATGTCT	0.353000													29	35					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2966401	2966401	+	Silent	SNP	G	G	A	rs138401482		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:2966401G>A	ENST00000396946.4	-	14	2182	c.1779C>T	c.(1777-1779)agC>agT	p.S593S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	593					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)		CAAACCCGCCGCTGTCATTGT	0.582000			Mis		DLBCL								4	31					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79598747	79598747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79598747G>T	ENST00000263849.4	+	4	358	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	86																	GAAACATGAAGAATTCATTGC	0.363000													3	16					0.004672	0.00483628	1	1	0
VCAN	1462	broad.mit.edu	37	5	82816211	82816211	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82816211A>G	ENST00000265077.3	+	7	2651	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	VCAN_ENST00000512590.2_Missense_Mutation_p.T648A|VCAN_ENST00000342785.4_Missense_Mutation_p.T696A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	696	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAGATGAGAACAGATACTTA	0.338000													13	25					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53167390	53167390	+	Missense_Mutation	SNP	C	C	A	rs148390412		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53167390C>A	ENST00000332411.2	-	3	905	c.852G>T	c.(850-852)gaG>gaT	p.E284D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	284	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.E284E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAACTCATTCTCTGCGGCAG	0.498000													25	42					5.45024e-15	7.15042e-15	1	1	0
DCLK2	166614	broad.mit.edu	37	4	151023816	151023816	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151023816G>A	ENST00000296550.7	+	2	1362	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	DCLK2_ENST00000506325.1_Missense_Mutation_p.R203Q|DCLK2_ENST00000302176.8_Missense_Mutation_p.R203Q	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	203	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGTGATTCGAAGTGGAGTG	0.438000													7	50					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75545819	75545819	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75545819G>A	ENST00000297785.3	-	3	342	c.288C>T	c.(286-288)atC>atT	p.I96I	ALDH1A1_ENST00000376939.1_Silent_p.I96I|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	96					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	p.I96I(1)|p.I110I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GATCTCTTTCGATTAAATCAG	0.483000													36	69					0	0	1	0	0
NFU1	27247	broad.mit.edu	37	2	69633160	69633160	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69633160C>A	ENST00000410022.2	-	6	744	c.539G>T	c.(538-540)aGa>aTa	p.R180I	NFU1_ENST00000462320.1_Missense_Mutation_p.R39I|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.R156I|NFU1_ENST00000394305.1_Missense_Mutation_p.R39I	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	180	NifU.				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						GTACCGTATTCTAGTATCTAA	0.323000													12	27					0.000978159	0.00102903	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176002378	176002378	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176002378A>G	ENST00000510636.1	+	9	993	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	CDHR2_ENST00000506348.1_Missense_Mutation_p.Q240R|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q240R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	240	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTTGACCCCCAGTTTGTCAGG	0.617000													26	46					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13504372	13504372	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:13504372G>T	ENST00000284110.1	-	1	872	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	25						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCATCAGCAAGAACTTCCGGA	0.697000													4	12					0.150653	0.151842	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34148674	34148674	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:34148674C>A	ENST00000346193.3	-	1	1773	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	574										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						ATGCTCGAATCTTGGGAGGCT	0.512000													17	67					4.7546e-09	5.67505e-09	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40749930	40749930	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40749930T>G	ENST00000298910.7	+	46	6842	c.6784T>G	c.(6784-6786)Ttt>Gtt	p.F2262V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2262					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)				ACAAAAAAATTTTCTTTTGGT	0.289000													4	10					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66887695	66887695	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66887695A>G	ENST00000269080.2	-	22	3096	c.2959T>C	c.(2959-2961)Ttc>Ctc	p.F987L	ABCA8_ENST00000430352.2_Missense_Mutation_p.F1027L|ABCA8_ENST00000586539.1_Missense_Mutation_p.F1027L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	987						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)					ACCAGCCAGAACATGATATAT	0.363000													4	13					0	0	1	0	0
SOCS5	0	broad.mit.edu	37	2	46986192	46986192	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46986192C>T	ENST00000306503.5	+	2	695	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	SOCS5_ENST00000394861.2_Missense_Mutation_p.R175C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	175					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAGGAAGTCGCTCTCTAAG	0.458000													22	56					0	0	1	0	0
GABRG2	0	broad.mit.edu	37	5	161495013	161495013	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:161495013C>T	ENST00000356592.3	+	1	468	c.8C>T	c.(7-9)tCg>tTg	p.S3L	GABRG2_ENST00000414552.2_Missense_Mutation_p.S3L|GABRG2_ENST00000361925.4_Missense_Mutation_p.S3L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	3					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCGATGAGTTCGCCAAATATA	0.453000													16	35					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99849197	99849197	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99849197G>T	ENST00000369239.5	-	12	1841	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	PNISR_ENST00000438806.1_Missense_Mutation_p.S546Y	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	546	Ser-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGACCGAGAAGAAGTACGACT	0.423000													14	41					0.000151284	0.00016287	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579501	55579501	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55579501C>A	ENST00000333973.2	+	1	648	c.559C>A	c.(559-561)Ctt>Att	p.L187I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTCTTAAGTCTTGCTTGCTC	0.433000													5	183					0.014758	0.015099	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24910202	24910202	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24910202G>A	ENST00000396432.2	-	9	1108	c.622C>T	c.(622-624)Cca>Tca	p.P208S	ARHGAP21_ENST00000320481.6_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	207					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGCAGATGGCAGCCAGGGA	0.502000													6	20					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090965	50090965	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:50090965C>T	ENST00000281631.5	+	12	1300	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	PARP8_ENST00000505554.1_Missense_Mutation_p.S360L|PARP8_ENST00000503750.2_Missense_Mutation_p.S381L|PARP8_ENST00000514342.2_Missense_Mutation_p.S134L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S381L|PARP8_ENST00000514067.2_Missense_Mutation_p.S381L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	381						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)				ACTCTAAAGTCGCATAGACTA	0.458000													27	68					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541030	55541030	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55541030C>T	ENST00000361760.1	+	1	117	c.117C>T	c.(115-117)gtC>gtT	p.V39V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCTACACAGTCACTGTAGTGG	0.403000													38	66					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101451471	101451471	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101451471A>C	ENST00000341893.3	+	6	1453	c.701A>C	c.(700-702)gAt>gCt	p.D234A	CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000494050.1_Missense_Mutation_p.D234A|CEP97_ENST00000327230.4_Missense_Mutation_p.D234A			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	234	LRRCT.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGTCCTAGATGGATATGTG	0.403000													7	20					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56680718	56680718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56680718C>A	ENST00000431842.2	-	7	1783	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*|FAM208A_ENST00000493960.2_Nonsense_Mutation_p.E683*	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	683								p.E287*(1)|p.E683*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTAATCAATTCTTTGACTCTA	0.358000													11	24					1.08611e-07	1.25818e-07	1	1	0
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:37397962C>T	ENST00000405091.2	-	4	656	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_ENST00000381821.1_Silent_p.T135T|TEX33_ENST00000402860.3_Silent_p.T50T			O43247	EAN57_HUMAN	testis expressed 33	135																	CCTTCTGGTTCGTGGGCGTGC	0.622000													13	12					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	49867163	49867163	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:49867163G>T	ENST00000442544.2	+	1	622	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	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)		GAAATATGGAGAATAGTCTTA	0.542000													37	91					5.71845e-15	7.50055e-15	1	1	0
OR4K17	390436	broad.mit.edu	37	14	20585842	20585842	+	Missense_Mutation	SNP	C	C	T	rs143610275	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20585842C>T	ENST00000315543.4	+	1	277	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATGTATTTTCTCCTTGGTAA	0.393000													7	210					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114964082	114964082	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114964082C>T	ENST00000358465.2	-	11	2120	c.2037G>A	c.(2035-2037)tcG>tcA	p.S679S	TRIM33_ENST00000369543.2_Silent_p.S679S|TRIM33_ENST00000450349.2_Silent_p.S287S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	679					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TATCTGGCAGCGATGGAAGGT	0.403000			T	RET	papillary thyroid								21	64					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230642058	230642058	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230642058C>A	ENST00000283943.5	-	36	5455	c.5277G>T	c.(5275-5277)aaG>aaT	p.K1759N	TRIP12_ENST00000389045.3_Missense_Mutation_p.K1489N|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1807N	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1759					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAGTCTTTTCTTCTGTCTGA	0.378000													50	64					3.19319e-46	4.62646e-46	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98684594	98684594	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98684594C>A	ENST00000288985.7	+	8	1645	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.S258Y|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	447					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CAGACCAATTCTCATGGTGAA	0.368000													13	12					4.3838e-07	4.998e-07	1	1	0
ZBTB24	9841	broad.mit.edu	37	6	109788914	109788914	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109788914T>C	ENST00000230122.3	-	6	1479	c.1312A>G	c.(1312-1314)Atc>Gtc	p.I438V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TTGCCACAGATTTCACAAGTA	0.333000													7	36					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077539	81077539	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81077539T>G	ENST00000566488.1	+	3	1931	c.968T>G	c.(967-969)tTt>tGt	p.F323C	ATMIN_ENST00000299575.4_Missense_Mutation_p.F479C|ATMIN_ENST00000564241.1_Missense_Mutation_p.F323C|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	479	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTGATGCATTTATGGACACC	0.458000													39	60					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680421	216680421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:216680421G>A	ENST00000391890.3	-	9	1706	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	ESRRG_ENST00000408911.3_Nonsense_Mutation_p.R413*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	413					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCCAGCTCGACGAGGGTCT	0.502000													18	34					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865848	118865848	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865848C>A	ENST00000295622.1	+	1	852	c.812C>A	c.(811-813)tCt>tAt	p.S271Y		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	271										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAAGTTCTGAGAAGACT	0.488000													45	49					2.95478e-19	4.01807e-19	1	1	0
MALAT1	0	broad.mit.edu	37	11	65268580	65268580	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65268580G>T	ENST00000534336.1	+	0	3348					NR_002819.2																						TTTAGTTGGGGTAATGAAGTA	0.338000													16	42					1.15088e-07	1.32965e-07	1	1	0
PAQR3	152559	broad.mit.edu	37	4	79845024	79845024	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:79845024C>T	ENST00000512733.1	-	5	993	c.780G>A	c.(778-780)gaG>gaA	p.E260E	PAQR3_ENST00000380645.4_Silent_p.E260E|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	260						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GAAAGTACCGCTCTGGGACTT	0.368000													16	17					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703873	33703873	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33703873G>A	ENST00000336934.5	-	5	1057	c.941C>T	c.(940-942)tCg>tTg	p.S314L	STARD13_ENST00000255486.4_Missense_Mutation_p.S306L|STARD13_ENST00000399365.3_Missense_Mutation_p.S196L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	314					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGTGGCGGCGAATTCTGGAG	0.602000													35	64					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135983592	135983592	+	Missense_Mutation	SNP	G	G	A	rs151046197		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135983592G>A	ENST00000393160.3	-	6	1168	c.815C>T	c.(814-816)tCg>tTg	p.S272L	RALGDS_ENST00000372062.3_Missense_Mutation_p.S298L|RALGDS_ENST00000542690.1_Missense_Mutation_p.S398L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.S327L|RALGDS_ENST00000372047.3_Missense_Mutation_p.S315L|RALGDS_ENST00000393157.3_Missense_Mutation_p.S326L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	327					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCTGGAGCCGATTCTAGTCC	0.597000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								20	19					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346402	152346402	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:152346402T>G	ENST00000359321.1	-	3	253	c.168A>C	c.(166-168)gaA>gaC	p.E56D	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	56					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GATAAAGCATTTCTGTTTTTC	0.373000								Homologous recombination					25	36					0	0	1	0	0
MIR495	0	broad.mit.edu	37	14	101500140	101500140	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:101500140G>A	ENST00000385010.1	+	0	49					NR_030175.1																						TATATGTGACGAAACAAACAT	0.507000													10	10					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32745259	32745259	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32745259A>C	ENST00000545067.1	+	4	749	c.453A>C	c.(451-453)caA>caC	p.Q151H	CCDC7_ENST00000535327.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000537047.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000539197.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000362006.5_Missense_Mutation_p.Q151H|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q151H			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	151										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAGAAGAACAAAATGTATGTA	0.313000													12	18					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324190	27324190	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27324190T>C	ENST00000402394.1	-	6	1177	c.909A>G	c.(907-909)caA>caG	p.Q303Q	CGREF1_ENST00000260595.5_Silent_p.Q286Q|CGREF1_ENST00000405600.1_Silent_p.Q303Q|CGREF1_ENST00000404694.3_Silent_p.Q425Q|CGREF1_ENST00000312734.4_Silent_p.Q303Q|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	286					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGTCATTTTGGGTGTTCT	0.532000													69	139					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042459	170042459	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170042459G>T	ENST00000263816.3	-	50	9684	c.9399C>A	c.(9397-9399)ttC>ttA	p.F3133L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3133	EGF-like 11.				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)	AGGAACAATAGAAACTGGTTA	0.443000													25	30					4.72057e-08	5.51616e-08	1	1	0
MMP26	56547	broad.mit.edu	37	11	5013298	5013298	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5013298G>A	ENST00000380390.1	+	6	916	c.700G>A	c.(700-702)Gac>Aac	p.D234N	MMP26_ENST00000300762.1_Missense_Mutation_p.D234N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGGTATCACGACCCTAGAAC	0.488000													19	27					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1057651	1057651	+	Silent	SNP	G	G	A	rs139553130		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1057651G>A	ENST00000264930.5	-	22	3004	c.2961C>T	c.(2959-2961)atC>atT	p.I987I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	987					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACTTCTCAGCGATCAGCTTCT	0.612000													75	123					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113308539	113308539	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113308539G>A	ENST00000263331.5	+	5	1302	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	241					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTATTTACCGAAAAGAACTG	0.378000													20	82					0	0	1	0	0
BCL10	8915	broad.mit.edu	37	1	85736388	85736388	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85736388G>A	ENST00000370580.1	-	2	996	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	87	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTTTCTCGCCGAATAGATTCA	0.353000			T	IGH@	MALT								19	33					0	0	1	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114163	73114163	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:73114163G>A	ENST00000356692.5	+	8	1052	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PPP4R2_ENST00000295862.9_Missense_Mutation_p.E211K|PPP4R2_ENST00000394284.3_Missense_Mutation_p.E210K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	267					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GACTTCCAGCGAAATTTCTTC	0.448000													16	41					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67257334	67257334	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67257334G>A	ENST00000392676.3	-	26	3560	c.3496C>T	c.(3496-3498)Ctt>Ttt	p.L1166F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L1167F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1166F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1166					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCATAATGAAGAATAGTTGCA	0.289000													4	27					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980781	74980781	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:74980781G>T	ENST00000299727.3	+	3	973	c.973G>T	c.(973-975)Gat>Tat	p.D325Y		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	325					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)		CATTCGCAAAGATTCACACCT	0.388000													12	100					9.05144e-12	1.13153e-11	1	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128902444	128902444	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128902444C>A	ENST00000371106.3	+	21	2200	c.2008C>A	c.(2008-2010)Ctt>Att	p.L670I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	670					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCTTGCCATCCTTGGCTGGAG	0.612000													7	29					0.0293803	0.0299069	1	1	0
HMGCR	3156	broad.mit.edu	37	5	74655286	74655286	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74655286A>C	ENST00000287936.4	+	18	2518	c.2362A>C	c.(2362-2364)Aat>Cat	p.N788H	HMGCR_ENST00000511206.1_Missense_Mutation_p.N788H|HMGCR_ENST00000343975.5_Missense_Mutation_p.N735H	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	788	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGGTCCCACAAATGAAGATTT	0.408000													10	30					0	0	1	0	0
MTHFS	10588	broad.mit.edu	37	15	80137564	80137564	+	Silent	SNP	C	C	T	rs150067777	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137564C>T	ENST00000258874.3	-	3	660	c.600G>A	c.(598-600)tcG>tcA	p.S200S	ST20-MTHFS_ENST00000479961.1_Silent_p.S176S	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	200					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AAGCTGTTGACGAGTCTTCGT	0.393000													31	52					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108724067	108724067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:108724067C>A	ENST00000232603.5	-	19	1945	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	MORC1_ENST00000483760.1_Missense_Mutation_p.Q600H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	621					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						TGTTTCTTTTCTGTCCTCTAC	0.378000													12	26					3.27435e-08	3.83577e-08	1	1	0
CNDP1	84735	broad.mit.edu	37	18	72247405	72247405	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72247405A>C	ENST00000582365.1	+	9	1144	c.1078A>C	c.(1078-1080)Agt>Cgt	p.S360R	CNDP1_ENST00000358821.3_Missense_Mutation_p.S403R			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	403					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.S403G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAAAAGAAATAGTTCCAACAA	0.388000													11	15					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70859890	70859890	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70859890C>A	ENST00000322773.4	+	30	2092	c.1990C>A	c.(1990-1992)Cca>Aca	p.P664T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P286T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	664	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCAGGGAGTTCCAGGGAGAGA	0.483000													42	83					8.20599e-20	1.12023e-19	1	1	0
SSR4	6748	broad.mit.edu	37	X	153063544	153063544	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153063544G>A	ENST00000320857.3	+	6	1454	c.370G>A	c.(370-372)Gac>Aac	p.D124N	SSR4_ENST00000370087.1_Missense_Mutation_p.D124N|SSR4_ENST00000370085.3_Missense_Mutation_p.D99N|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Missense_Mutation_p.D124N	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	124					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAATAACGAGGACATTTCCAT	0.602000													66	151					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64876790	64876790	+	Silent	SNP	C	C	T	rs147241001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64876790C>T	ENST00000279281.3	+	6	1574	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		AGGGCCTCATCGTGGGCTTCG	0.617000													23	35					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142548671	142548671	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142548671C>A	ENST00000295992.3	-	6	1034	c.728G>T	c.(727-729)aGa>aTa	p.R243I	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	243	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGTTCATTTCTCTCAGACAC	0.303000													29	37					1.2476e-16	1.66396e-16	1	1	0
C15orf27	123591	broad.mit.edu	37	15	76462186	76462186	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76462186C>A	ENST00000388942.3	+	6	762	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	162						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGCTTGGGATCTGGGATTACA	0.498000													86	152					5.56898e-48	8.07487e-48	1	1	0
ACTN3	89	broad.mit.edu	37	11	66319048	66319048	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66319048C>A	ENST00000513398.1	+	0	409				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCACAAAATCGCCAACGTTA	0.547000													26	34					8.24728e-16	1.09065e-15	1	1	0
CCDC163P	0	broad.mit.edu	37	1	45965208	45965208	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45965208T>G	ENST00000490551.3	-	1	438	c.74A>C	c.(73-75)aAt>aCt	p.N25T	CCDC163P_ENST00000432082.1_Missense_Mutation_p.N25T|CCDC163P_ENST00000488405.2_Missense_Mutation_p.N25T																cervix(1)|endometrium(1)	2						CCTCACCTTATTCCGGACCAC	0.547000													7	19					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966456	25966456	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25966456G>A	ENST00000435504.4	-	13	3043	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S889L|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGTGCTCGAGGGTGGAGC	0.473000													51	101					0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97443223	97443223	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97443223C>T	ENST00000371209.5	-	10	1258	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D	TCTN3_ENST00000265993.8_Intron|TCTN3_ENST00000371217.4_Intron|TCTN3_ENST00000430368.1_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3	0					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AGTTTGAAAGCCTTTGCAGCT	0.368000													7	19					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542031	12542031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12542031T>G	ENST00000301547.5	-	4	1152	c.955A>C	c.(955-957)Agt>Cgt	p.S319R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	319					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCGGAAACACTGAAGGCTTTC	0.438000													65	108					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73467988	73467988	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:73467988A>C	ENST00000326291.6	+	11	1727	c.1389A>C	c.(1387-1389)aaA>aaC	p.K463N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	463						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTAAATTAAAATCTTTTGAAA	0.348000													13	32					0	0	1	0	0
GABRB2	0	broad.mit.edu	37	5	160761811	160761811	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160761811G>A	ENST00000274547.2	-	8	997	c.780C>T	c.(778-780)tcC>tcT	p.S260S	GABRB2_ENST00000517547.1_Silent_p.S100S|GABRB2_ENST00000353437.6_Silent_p.S260S|GABRB2_ENST00000520240.1_Silent_p.S260S|GABRB2_ENST00000393959.1_Silent_p.S260S|GABRB2_ENST00000517901.1_Silent_p.S197S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	260					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGAGACCCAGGAGAGGATGG	0.433000													18	39					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449593	55449593	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55449593T>G	ENST00000446217.1	-	7	2434	c.2032A>C	c.(2032-2034)Att>Ctt	p.I678L	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.I650L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I650L|NLRP7_ENST00000590030.1_Missense_Mutation_p.I650L|NLRP7_ENST00000588756.1_Missense_Mutation_p.I650L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	650							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGTTCGGAATGGTTAGGTAA	0.488000													30	60					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1394064	1394064	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1394064C>T	ENST00000324385.5	+	16	1691	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	BAIAP3_ENST00000568887.1_Silent_p.F448F|BAIAP3_ENST00000562208.1_Silent_p.F453F|BAIAP3_ENST00000421665.2_Silent_p.F440F|BAIAP3_ENST00000397488.2_Silent_p.F493F|BAIAP3_ENST00000397489.1_Silent_p.F493F|BAIAP3_ENST00000426824.3_Silent_p.F476F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	511					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCTCTGAGTTCGGGCTGCAGC	0.657000													18	37					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373600	7373600	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7373600G>T	ENST00000502583.1	-	5	2016	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	CAGE1_ENST00000512086.1_Missense_Mutation_p.F484L|CAGE1_ENST00000379918.4_Missense_Mutation_p.F484L|CAGE1_ENST00000338150.4_Missense_Mutation_p.F484L|CAGE1_ENST00000296742.7_Missense_Mutation_p.F348L	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	484										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTAAAGACAAGAACTCTTGTT	0.398000													12	11					0.0135373	0.0139058	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102038555	102038555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102038555G>T	ENST00000549145.1	+	11	1010	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E265*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E192*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E278*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E272*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E279*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E277*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E316*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	291	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).	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						AAATGGTCAAGAAATTCGACC	0.398000													8	13					0.00448238	0.00465112	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55338749	55338749	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55338749C>T	ENST00000536015.1	-	17	2002	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	ATP8B1_ENST00000283684.4_Missense_Mutation_p.R628Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	628			R -> W (in BRIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCGATGTAACCGTTCATAAAT	0.373000													12	37					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5064861	5064861	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5064861G>A	ENST00000574788.1	+	32	5097	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q	USP6_ENST00000250066.6_Missense_Mutation_p.R956Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R639Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	956					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCACTCTACGAGTTGTGCAG	0.393000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								16	36					0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113824786	113824786	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:113824786T>G	ENST00000342783.4	+	8	706	c.699T>G	c.(697-699)aaT>aaG	p.N233K	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211K	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1.				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)	TACGGGAAAATTTTGTACTGA	0.299000													14	27					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924467	70924467	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70924467C>A	ENST00000603540.1	+	2	509	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	ADAM21_ENST00000267499.3_Missense_Mutation_p.S84Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	84					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTTAGTTTCTAGACACCTC	0.512000													13	122					1.67942e-08	1.98515e-08	1	1	0
LARP1	23367	broad.mit.edu	37	5	154179268	154179268	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154179268C>T	ENST00000336314.4	+	9	1288	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	499	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTCCCAGCTTCTCAACTG	0.507000													35	88					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197112	58197112	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58197112T>C	ENST00000537081.1	-	15	1858	c.1859A>G	c.(1858-1860)cAa>cGa	p.Q620R	AVIL_ENST00000257861.3_Missense_Mutation_p.Q627R|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	627	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACAACGAATTGGCCGGTCTT	0.478000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	78					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96030304	96030304	+	Nonsense_Mutation	SNP	C	C	A	rs121912605		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96030304C>A	ENST00000260766.3	+	18	5085	c.4451C>A	c.(4450-4452)tCg>tAg	p.S1484*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S1484*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1176*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCATCATATCGATTGAGAAC	0.438000													31	58					5.60225e-13	7.13348e-13	1	1	0
KIF19	124602	broad.mit.edu	37	17	72350678	72350678	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72350678T>G	ENST00000389916.4	+	18	2824	c.2686T>G	c.(2686-2688)Ttc>Gtc	p.F896V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	896					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GTCCCGATCCTTCGAGGTCAC	0.642000													4	4					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044595	35044595	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35044595G>A	ENST00000312292.5	+	2	2016	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	C9orf131_ENST00000421362.2_Missense_Mutation_p.V609I|C9orf131_ENST00000354479.5_Missense_Mutation_p.V584I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	657										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAAGTCCCACGTAAGTGAGCC	0.527000													39	73					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41753901	41753901	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41753901C>A	ENST00000265709.8	-	1	379	c.98G>T	c.(97-99)aGa>aTa	p.R33I		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	458	89 kDa domain.				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)			GGAGCGGTTTCTCCGCTTCCT	0.627000													18	17					1.00905e-13	1.29777e-13	1	1	0
ADH6	130	broad.mit.edu	37	4	100130081	100130081	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100130081G>T	ENST00000394897.1	-	6	654	c.572C>A	c.(571-573)aCt>aAt	p.T191N	ADH6_ENST00000394899.2_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	191					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AGAACCTGGAGTCACCTAAAC	0.453000													22	259					1.28384e-07	1.48174e-07	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3428329	3428329	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3428329T>G	ENST00000324266.5	+	5	1507	c.1312T>G	c.(1312-1314)Ttg>Gtg	p.L438V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L438V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	438							binding										ACTAGTGAAGTTGGGCCTTTT	0.423000													48	90					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48682971	48682971	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48682971G>T	ENST00000334136.5	+	29	3775	c.3597G>T	c.(3595-3597)aaG>aaT	p.K1199N	HDAC6_ENST00000376619.2_Missense_Mutation_p.K1199N|HDAC6_ENST00000444343.2_Missense_Mutation_p.K1213N			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1199					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TAGATGTGAAGAACATCGCCC	0.592000													16	24					7.07596e-05	7.68259e-05	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193207521	193207521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193207521C>A	ENST00000342695.4	-	7	1058	c.736G>T	c.(736-738)Gag>Tag	p.E246*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E246*|ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.E246*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	246					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAACTCACCTCTCTGAGATCA	0.318000													18	83					1.67942e-08	1.98515e-08	1	1	0
CPSF6	11052	broad.mit.edu	37	12	69650589	69650589	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69650589T>C	ENST00000435070.2	+	4	597	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	CPSF6_ENST00000456847.3_Missense_Mutation_p.F163L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.F163L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CAATAAACAGTTCCTGAGTCA	0.358000													18	43					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57088168G>T	ENST00000330619.8	+	6	1057	c.371G>T	c.(370-372)aGa>aTa	p.R124I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363000													10	34					7.48243e-07	8.49459e-07	1	1	0
VPS52	6293	broad.mit.edu	37	6	33236869	33236869	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33236869C>T	ENST00000445902.2	-	6	688	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTCGAAGTCGAATGTTCAT	0.537000													118	46					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159547	152159547	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152159547C>T	ENST00000439251.1	-	2	1034	c.596G>A	c.(595-597)cGt>cAt	p.R199H	PNMA5_ENST00000452693.1_Missense_Mutation_p.R199H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R199H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R199H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	199					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGCAAACGCCGCCTCTT	0.557000													32	84					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548750	158548750	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158548750A>C	ENST00000368150.1	-	1	939	c.940T>G	c.(940-942)Ttt>Gtt	p.F314V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTCTTCTAAAAGCATTTTTC	0.433000													14	108					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143082376	143082376	+	Silent	SNP	C	C	T	rs141051651	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:143082376C>T	ENST00000316549.6	-	14	1762	c.1554G>A	c.(1552-1554)acG>acA	p.T518T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	518					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCTCTGCTTTCGTCATGTTTT	0.368000													20	42					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187143	62187143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187143G>T	ENST00000370098.3	+	2	219	c.127G>T	c.(127-129)Gag>Tag	p.E43*	C20orf195_ENST00000370097.1_Nonsense_Mutation_p.E43*	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	43										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GACCTACACCGAGCGCCGCAA	0.627000													18	37					1.02788e-11	1.28326e-11	1	1	0
GPR52	9293	broad.mit.edu	37	1	174417471	174417471	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174417471T>C	ENST00000367685.2	+	1	260	c.222T>C	c.(220-222)taT>taC	p.Y74Y	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	74						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TACATCATTATACTACCAGCT	0.418000													52	76					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273380	36273380	+	Silent	SNP	G	G	A	rs138321382	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36273380G>A	ENST00000007510.4	+	13	1335	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	ARHGAP33_ENST00000314737.5_Silent_p.P397P|ARHGAP33_ENST00000378944.5_Silent_p.P261P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	397	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGAGCTTCCGAACCCTCTGC	0.607000													28	37					0	0	1	0	0
AC011537.3	0	broad.mit.edu	37	19	15880411	15880411	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15880411G>A	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							ATCTCTTTAGGATCGCGGTCC	0.557000													40	39					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987509	61987509	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987509A>C	ENST00000409186.1	-	5	2828	c.723T>G	c.(721-723)atT>atG	p.I241M	PCDH20_ENST00000409204.4_Missense_Mutation_p.I241M			Q8N6Y1	PCD20_HUMAN	protocadherin 20	214	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTACCCCATTAATGCCTACAT	0.532000													47	79					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	691572	691572	+	Missense_Mutation	SNP	C	C	T	rs143376874		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:691572C>T	ENST00000382409.3	-	2	800	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DEAF1_ENST00000338675.6_Missense_Mutation_p.V106M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	106	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCAGCCCCCACGTTGGCCACT	0.567000													12	25					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173411	207173411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207173411G>T	ENST00000374423.3	+	5	4545	c.4159G>T	c.(4159-4161)Gaa>Taa	p.E1387*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1387							nucleic acid binding|zinc ion binding	p.E1387K(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353000													14	20					6.31663e-08	7.35827e-08	1	1	0
DGKG	1608	broad.mit.edu	37	3	186024714	186024714	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186024714G>A	ENST00000265022.3	-	3	659	c.120C>T	c.(118-120)agC>agT	p.S40S	DGKG_ENST00000382164.4_Silent_p.S40S|DGKG_ENST00000344484.4_Silent_p.S40S|DGKG_ENST00000544847.1_Silent_p.S40S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	40					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATTGTTTGAGGCTCCCACCCT	0.383000													21	28					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173910505	173910505	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173910505G>T	ENST00000367696.2	-	19	3500	c.3149C>A	c.(3148-3150)tCt>tAt	p.S1050Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1041Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1050Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1050					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CATGTCCAGAGAACACTGGTT	0.363000													21	45					7.45023e-12	9.31775e-12	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761503	55761503	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55761503G>T	ENST00000278409.1	-	1	598	c.599C>A	c.(598-600)tCt>tAt	p.S200Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCAAAATAGAACTTATGCT	0.453000													28	64					9.80776e-20	1.33792e-19	1	1	0
TESK2	10420	broad.mit.edu	37	1	45812447	45812447	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45812447A>G	ENST00000372086.3	-	9	1197	c.797T>C	c.(796-798)tTc>tCc	p.F266S	TESK2_ENST00000538496.1_Missense_Mutation_p.F183S|TESK2_ENST00000341771.6_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	266	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTCCAGCCCGAAATTCTGTGG	0.502000													12	18					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82996969	82996969	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82996969G>T	ENST00000307792.3	-	17	2728	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P694H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	754	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTTTCCTGAGGGTTGGCATA	0.473000													40	109					2.40579e-17	3.22781e-17	1	1	0
RYR3	6263	broad.mit.edu	37	15	34123245	34123245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34123245C>A	ENST00000389232.4	+	86	11486	c.11416C>A	c.(11416-11418)Ctg>Atg	p.L3806M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3801M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3806					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCCAAAGCTCTGGCAGTCAC	0.378000													9	24					1.58986e-06	1.78832e-06	1	1	0
POP1	10940	broad.mit.edu	37	8	99142362	99142362	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99142362G>A	ENST00000401707.2	+	5	724	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	POP1_ENST00000349693.3_Missense_Mutation_p.V215I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	215					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTTTCATATGGTCAAGAAGTG	0.512000													31	56					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696106	222696106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:222696106G>T	ENST00000343410.6	-	9	2070	c.2012C>A	c.(2011-2013)tCt>tAt	p.S671Y	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	671					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTTGTAGGAGAAGCCAGCTT	0.532000													88	165					3.49128e-24	4.89562e-24	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62021173	62021173	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62021173T>G	ENST00000578147.1	-	22	4026	c.3950A>C	c.(3949-3951)aAg>aCg	p.K1317T	SCN4A_ENST00000435607.1_Missense_Mutation_p.K1317T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1317					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATAGTATTTCTTCTGTTCCTC	0.547000													12	25					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					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						TTTCGACTGCGAACAGACGAA	0.507000													47	88					0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955791	63955791	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63955791A>G	ENST00000371092.3	-	4	324	c.264T>C	c.(262-264)agT>agC	p.S88S	ITGB3BP_ENST00000271002.10_Silent_p.S49S|ITGB3BP_ENST00000283568.8_Silent_p.S49S	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	49					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GCTCTTCAGAACTTGTGGGAG	0.328000													7	47					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775478	47775478	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775478C>A	ENST00000376954.1	+	6	1801	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.S478Y			P51508	ZNF81_HUMAN	zinc finger protein 81	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TGTGGGAAATCTTTCCCTTCT	0.438000													22	45					1.87028e-06	2.10206e-06	1	1	0
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2861177G>A	ENST00000545496.1	-	9	1421	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTGATCCGACGTAAAATA	0.473000													11	24					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497761	61497761	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61497761C>A	ENST00000424789.2	+	25	4422	c.4418C>A	c.(4417-4419)tCt>tAt	p.S1473Y	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1483Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1473							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCCAGTAGTTCTGTAGGCTCT	0.552000													33	53					4.3181e-19	5.86915e-19	1	1	0
ZKSCAN8	0	broad.mit.edu	37	6	28120090	28120090	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28120090C>T	ENST00000330236.6	+	5	887	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L235F	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		AGAGGAGTGGCTTCTTGATCC	0.448000													31	62					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29406121	29406121	+	Missense_Mutation	SNP	G	G	A	rs144849809		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29406121G>A	ENST00000558402.1	+	15	2679	c.2080G>A	c.(2080-2082)Gtc>Atc	p.V694I	APBA2_ENST00000558259.1_Missense_Mutation_p.V694I|APBA2_ENST00000558330.1_Missense_Mutation_p.V682I|APBA2_ENST00000561069.1_Missense_Mutation_p.V694I|APBA2_ENST00000411764.1_Missense_Mutation_p.V682I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	694	PDZ 2.				nervous system development|protein transport		protein binding	p.V694I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCGAGGGGGCGTCCGTGTGGG	0.627000													20	47					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545825	94545825	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94545825C>A	ENST00000330836.5	-	2	395	c.264G>T	c.(262-264)gaG>gaT	p.E88D	DDX24_ENST00000555054.1_Missense_Mutation_p.E45D|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	88	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		ACTTTCCCTCCTCCTCCTCCT	0.438000													7	94					0.248553	0.24944	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185898	127185898	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:127185898C>T	ENST00000371124.3	-	1	484	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	96						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTACTCCAAGCTCCCGCTCAA	0.473000													127	218					0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55026990	55026990	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55026990G>A	ENST00000257867.4	-	2	139	c.86C>T	c.(85-87)gCt>gTt	p.A29V	LACRT_ENST00000547511.1_Missense_Mutation_p.A29V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	29					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						GGCAGGATCAGCACCCGTCGA	0.597000													64	108					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53578315	53578315	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53578315G>A	ENST00000601421.1	-	1	905	c.29C>T	c.(28-30)tCt>tTt	p.S10F	ZNF160_ENST00000599056.1_Missense_Mutation_p.S46F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S46F|ZNF160_ENST00000355147.5_Missense_Mutation_p.S46F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S46F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	46	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CTCACCCAGAGAAACAAGGTT	0.483000													42	72					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34298177	34298177	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:34298177G>A	ENST00000257209.4	+	16	2513	c.2391G>A	c.(2389-2391)ccG>ccA	p.P797P	FHOD3_ENST00000590592.1_Silent_p.P972P|FHOD3_ENST00000359247.4_Silent_p.P780P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Silent_p.P759P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	780					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGTGCAGCCGAAGACAGAGT	0.537000													30	52					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332489	123332489	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123332489T>G	ENST00000223023.4	-	9	1591	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	420	WH2 1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCACTTTTTTTAGCTGAGC	0.493000													24	37					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883766	51883766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51883766G>T	ENST00000221973.3	-	4	621	c.579C>A	c.(577-579)ttC>ttA	p.F193L	LIM2_ENST00000596399.1_Missense_Mutation_p.F151L	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	151					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TACCTGCGAAGAACGTCATGA	0.612000													9	309					3.09899e-07	3.54467e-07	1	1	0
KLHL20	27252	broad.mit.edu	37	1	173726179	173726179	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173726179A>C	ENST00000209884.4	+	7	1168	c.1032A>C	c.(1030-1032)gaA>gaC	p.E344D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E155D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	344					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGACCAATGAATGGAGAATGG	0.458000													7	101					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68051084	68051084	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:68051084C>T	ENST00000344096.3	+	3	810	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	DYRK2_ENST00000393555.3_Missense_Mutation_p.R60W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	133					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CATTCATAGACGGCAGGGGAG	0.542000													23	37					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7955218	7955218	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:7955218T>C	ENST00000332175.8	+	7	1975	c.938T>C	c.(937-939)aTt>aCt	p.I313T	PTPRM_ENST00000400053.4_Missense_Mutation_p.I251T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I313T|PTPRM_ENST00000444013.1_Missense_Mutation_p.I100T|PTPRM_ENST00000580170.1_Missense_Mutation_p.I313T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	313	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATGGGCCCATTGTGGCCCGA	0.577000													5	53					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	27012969	27012969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27012969G>T	ENST00000376215.5	+	8	801	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	PDSS1_ENST00000376203.5_Nonsense_Mutation_p.E250*	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	250					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGGGTCAAAAGAAAATGAGAA	0.413000													19	47					2.37509e-13	3.04217e-13	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76023417G>A	ENST00000393004.2	-	5	2352	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413000													28	123					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55042056	55042056	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522000													34	41					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152325056	152325056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152325056G>T	ENST00000243326.4	+	31	7299	c.6816G>T	c.(6814-6816)aaG>aaT	p.K2272N	RIF1_ENST00000428287.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.K2272N|RIF1_ENST00000430328.2_Intron			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2272	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAGCTCAAAGAAGTGTTTAG	0.358000													7	53					0.000157383	0.000169016	1	1	0
GULP1	51454	broad.mit.edu	37	2	189452618	189452618	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:189452618T>G	ENST00000409580.1	+	12	1499	c.785T>G	c.(784-786)tTt>tGt	p.F262C	GULP1_ENST00000409609.1_Missense_Mutation_p.F262C|GULP1_ENST00000409830.1_Missense_Mutation_p.F262C|GULP1_ENST00000409843.1_Missense_Mutation_p.F262C|GULP1_ENST00000359135.3_Missense_Mutation_p.F262C|GULP1_ENST00000409805.1_Missense_Mutation_p.F159C			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	262					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGACCCATTTAACTGTGGA	0.368000													17	36					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2354003	2354003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:2354003G>A	ENST00000301732.5	-	12	2134	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ABCA3_ENST00000382381.3_Silent_p.F420F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	478					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GAGGCACGCCGAACTGCCCTG	0.607000													57	77					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835651	61835651	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61835651A>C	ENST00000280772.1	-	37	5179	c.4988T>G	c.(4987-4989)aTt>aGt	p.I1663S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1663	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGATGTAATAATTGACTTAAA	0.398000													24	53					0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166104	34166104	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34166104T>C	ENST00000536776.1	-	2	769	c.629A>G	c.(628-630)aAc>aGc	p.N210S	C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.N210S|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.N210S|C21orf62_ENST00000490358.1_Missense_Mutation_p.N210S|C21orf49_ENST00000477513.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	210										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				ATAGCTTTTGTTGCTTGGCAT	0.373000													26	53					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751258	26751258	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:26751258G>A	ENST00000396641.2	+	2	687	c.95G>A	c.(94-96)aGt>aAt	p.S32N	LRRC3B_ENST00000417744.1_Missense_Mutation_p.S32N|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S32N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	32						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CATTCTGCCAGTATGTGTCCC	0.448000													32	34					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590853	83590853	+	Missense_Mutation	SNP	G	G	A	rs138952094		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83590853G>A	ENST00000265362.3	-	17	2464	c.2150C>T	c.(2149-2151)aCa>aTa	p.T717I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T717I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	717					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCATCCATTGTGTTGAGATT	0.468000													37	55					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170633455	170633455	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170633455G>A	ENST00000239461.6	+	1	409	c.96G>A	c.(94-96)aaG>aaA	p.K32K	PRRX1_ENST00000367760.3_Silent_p.K32K|PRRX1_ENST00000497230.2_Silent_p.K32K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGCGAAAAAGAACTTCTCCG	0.667000													4	30					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949485	116949485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116949485G>T	ENST00000229554.5	+	3	1752	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E539*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	539	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423000									Kartagener syndrome				28	69					2.47511e-08	2.91589e-08	1	1	0
DUSP11	8446	broad.mit.edu	37	2	73989834	73989834	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73989834T>G	ENST00000272444.3	-	9	1129	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	316					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTGGAGTAATTATAAGGATA	0.502000													8	73					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45620089	45620089	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45620089C>T	ENST00000263736.4	-	20	2755	c.2693G>A	c.(2692-2694)cGa>cAa	p.R898Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R417Q|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	898					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTACCTGTTCGAAAGTCAAA	0.413000													41	74					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93617309	93617309	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93617309C>A	ENST00000394236.3	-	8	1148	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	PROS1_ENST00000407433.1_Missense_Mutation_p.D147Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	278	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTCTTCTGATCTTGGGCAAGT	0.383000													24	36					1.10923e-09	1.34134e-09	1	1	0
ATF7IP2	80063	broad.mit.edu	37	16	10534236	10534236	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10534236C>A	ENST00000396560.2	+	6	1338	c.1111C>A	c.(1111-1113)Ctt>Att	p.L371I	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.L371I|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.L371I|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.L371I|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AATAGCAAAACTTCAAAGACG	0.294000													5	12					0.217242	0.218251	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151358217	151358217	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151358217C>A	ENST00000370314.4	-	9	1366	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D	GABRA3_ENST00000535043.1_Missense_Mutation_p.E376D|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000370311.1_Missense_Mutation_p.E376D	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	376					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCAGGGCCTCTGGCACCT	0.502000													33	46					6.00712e-18	8.10414e-18	1	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79734320	79734320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79734320G>T	ENST00000338008.5	+	3	1996	c.1816G>T	c.(1816-1818)Gaa>Taa	p.E606*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E606*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E606*	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	606					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAATACAATAGAAAATGGCCT	0.313000													37	68					4.65686e-17	6.22576e-17	1	1	0
MEI1	150365	broad.mit.edu	37	22	42141899	42141899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42141899G>T	ENST00000401548.3	+	14	1589	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E257*|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	517							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGCTATAGAATTCCAGAG	0.502000													10	43					0.000442599	0.00046913	1	1	0
NRK	203447	broad.mit.edu	37	X	105179175	105179175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105179175C>T	ENST00000428173.2	+	21	3819	c.3516C>T	c.(3514-3516)ttC>ttT	p.F1172F	NRK_ENST00000243300.9_Silent_p.F1171F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1171							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACGCTGGATTCGTAGAAGTAC	0.373000										HNSCC(51;0.14)			28	65					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766016	171766016	+	Missense_Mutation	SNP	C	C	T	rs144659619	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171766016C>T	ENST00000311601.5	-	13	2263	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	698					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGGAAGCTTCGGCTGAAGGC	0.632000													22	45					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63972977	63972977	+	Splice_Site	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63972977T>A	ENST00000443617.2	-	35	6313		c.e35-2		RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATATAAAACTAAAATAAAAG	0.313000													23	30					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160201557	160201557	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160201557T>C	ENST00000321394.7	-	9	1295	c.1015A>G	c.(1015-1017)Act>Gct	p.T339A	TCP1_ENST00000420894.2_Missense_Mutation_p.T339A|TCP1_ENST00000544255.1_Missense_Mutation_p.T115A|TCP1_ENST00000392168.2_Missense_Mutation_p.T184A	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	339					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTTCAAAAGTTTCTTCACCT	0.373000													39	70					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105517481	105517481	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105517481C>A	ENST00000329797.3	-	4	1904	c.993G>T	c.(991-993)atG>atT	p.M331I	GPR132_ENST00000392585.2_Missense_Mutation_p.M322I|GPR132_ENST00000539291.2_Missense_Mutation_p.M331I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	331					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGTCTGTCTTCATGGACCACT	0.612000													23	37					6.21321e-17	8.30052e-17	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48145699	48145699	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48145699T>C	ENST00000311303.3	-	14	2457	c.2112A>G	c.(2110-2112)ggA>ggG	p.G704G	ABCC12_ENST00000448542.1_Silent_p.G704G|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	704						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAACTGCAATCCTCGCAGGT	0.483000													23	59					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036749	133036749	+	Silent	SNP	G	G	A	rs141981890	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133036749G>A	ENST00000262283.5	-	18	2148	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	OC90_ENST00000603859.1_Silent_p.I471I|OC90_ENST00000443356.2_Silent_p.I487I|OC90_ENST00000254627.3_Silent_p.I471I			Q02509	OC90_HUMAN	otoconin 90	487					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGAGGCCCGATCCCCAAGG	0.577000													11	12					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711983	89711983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89711983G>T	ENST00000371953.3	+	6	1958	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	201	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.F200fs*21(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GATGATGTTTGAAACTATTCC	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			40	62					1.07121e-22	1.49242e-22	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159505559	159505559	+	Missense_Mutation	SNP	C	C	T	rs146863607		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159505559C>T	ENST00000334857.2	-	1	283	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R80Q(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAAAAGCATTCGTGGCACAAT	0.428000													41	70					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136673886	136673886	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136673886A>C	ENST00000264161.4	-	11	1231	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	DARS_ENST00000537273.1_Missense_Mutation_p.F239C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	339					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TGGCTCCAAAAATTTGAATGG	0.363000													6	67					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185970453	185970453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185970453G>T	ENST00000271588.4	+	27	4322	c.4093G>T	c.(4093-4095)Gaa>Taa	p.E1365*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E1365*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1365	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAAGATAAAGAACAAGTTAC	0.343000													17	35					1.99824e-07	2.29918e-07	1	1	0
ASTN1	460	broad.mit.edu	37	1	176903403	176903403	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176903403G>A	ENST00000367654.2	-	16	2593	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	ASTN1_ENST00000361833.2_Silent_p.F852F|ASTN1_ENST00000367657.3_Silent_p.F852F|ASTN1_ENST00000424564.2_Silent_p.F852F			O14525	ASTN1_HUMAN	astrotactin 1	860					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AATGGTTGCCGAACTGGTCCA	0.542000													25	32					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42143119	42143119	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42143119C>A	ENST00000320955.6	-	66	11081	c.10854G>T	c.(10852-10854)gaG>gaT	p.E3618D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3618	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAAACAGGATCTCTGCCCCAC	0.672000													11	11					3.07112e-06	3.42433e-06	1	1	0
NKRF	55922	broad.mit.edu	37	X	118724928	118724928	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724928G>T	ENST00000371527.1	-	2	1112	c.460C>A	c.(460-462)Cct>Act	p.P154T	NKRF_ENST00000542113.1_Missense_Mutation_p.P169T|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.P154T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	154	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.P154S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GAAGGCTCAGGAGTTGACTGA	0.463000													30	74					2.90539e-05	3.18585e-05	1	1	0
BRD8	10902	broad.mit.edu	37	5	137476564	137476564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137476564C>T	ENST00000254900.5	-	26	3816	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1149	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAGTTAAGTCCATGGGTCTG	0.428000													69	152					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479942	66479942	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66479942C>T	ENST00000256447.4	-	3	886	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	243					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAGTAGAGTTCTGCAGACCAT	0.408000													25	43					0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40956314	40956314	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40956314C>A	ENST00000588408.1	+	3	593	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CNTD1_ENST00000588527.1_Missense_Mutation_p.S23Y	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	106	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAGAGAGAGTCTCAGAATTGG	0.458000													28	69					1.16021e-09	1.40238e-09	1	1	0
DENND4C	55667	broad.mit.edu	37	9	19296187	19296187	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19296187T>G	ENST00000380432.2	+	2	308	c.275T>G	c.(274-276)tTt>tGt	p.F92C	DENND4C_ENST00000434457.2_Missense_Mutation_p.F328C|DENND4C_ENST00000602925.1_Missense_Mutation_p.F328C|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	92	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTAGGAAATTTCTTATGTTT	0.368000													34	64					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41222622	41222622	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41222622T>C	ENST00000216218.3	-	12	1511	c.1030A>G	c.(1030-1032)Aat>Gat	p.N344D		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	344	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTTGACATATTTGCTGGGTTC	0.393000													40	61					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150386730	150386730	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150386730G>A	ENST00000367339.1	-	3	460	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ULBP3_ENST00000438272.2_Silent_p.F144F			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	144	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCGTCCATCGAAGCTGAACT	0.527000													4	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179471898	179471898	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179471898A>G	ENST00000589042.1	-	278	53655	c.53431T>C	c.(53431-53433)Tgg>Cgg	p.W17811R	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8938R|TTN_ENST00000359218.5_Missense_Mutation_p.W8871R|TTN_ENST00000342992.6_Missense_Mutation_p.W15243R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W8746R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W16170R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16170	Ig-like 104.						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)			GGTTGTCTCCAAGTATGCATC	0.393000													4	115					0	0	1	0	0
SHISA4	149345	broad.mit.edu	37	1	201860581	201860581	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201860581C>A	ENST00000362011.6	+	4	719	c.432C>A	c.(430-432)ccC>ccA	p.P144P	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	144	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						ACCCATACCCCCAGGACCCCA	0.587000													62	81					1.95512e-22	2.71716e-22	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982859	7982859	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982859T>G	ENST00000328600.2	-	2	461	c.300A>C	c.(298-300)gaA>gaC	p.E100D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	100							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCGGTATACTTCTCTGTAAT	0.493000													19	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457181	179457181	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179457181C>T	ENST00000589042.1	-	301	59775	c.59551G>A	c.(59551-59553)Gat>Aat	p.D19851N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10978N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10911N|TTN_ENST00000342992.6_Missense_Mutation_p.D17283N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10786N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18210N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18210	Ig-like 110.						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)			ATTCCACCATCTTCATGGGCA	0.373000													41	91					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31925870	31925870	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31925870G>A	ENST00000300870.10	+	4	509	c.300G>A	c.(298-300)tcG>tcA	p.S100S	RP11-170L3.8_ENST00000575471.1_RNA|ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	100					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGTGATATCGAGGAGACATG	0.368000													4	67					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66259175	66259175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66259175C>T	ENST00000532677.1	+	9	1394	c.993C>T	c.(991-993)atC>atT	p.I331I	DPP3_ENST00000360510.2_Silent_p.I312I|DPP3_ENST00000453114.1_Silent_p.I312I|DPP3_ENST00000541961.1_Silent_p.I312I|DPP3_ENST00000530165.1_Silent_p.I282I|DPP3_ENST00000531863.1_Silent_p.I332I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	312					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAGTTACATCGGGTTCATCG	0.622000													65	128					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600780	80600780	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:80600780A>C	ENST00000254037.2	+	1	3359	c.204A>C	c.(202-204)ttA>ttC	p.L68F	ZCCHC9_ENST00000380199.5_Missense_Mutation_p.L68F|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.L68F|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.L68F			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	68							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGAGTACTTAAATGAAGATG	0.373000													24	40					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281660	140281660	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140281660C>A	ENST00000458420.3	+	14	2410	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	740					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGGTGTGGGCTCCATGAGCC	0.567000										HNSCC(16;0.037)			20	45					3.51602e-12	4.42195e-12	1	1	0
VPS26A	9559	broad.mit.edu	37	10	70928317	70928317	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70928317A>C	ENST00000373382.1	+	9	1453	c.800A>C	c.(799-801)aAa>aCa	p.K267T	VPS26A_ENST00000546041.1_Missense_Mutation_p.K250T|VPS26A_ENST00000263559.6_Missense_Mutation_p.K267T|VPS26A_ENST00000541711.1_Missense_Mutation_p.K156T|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000395098.1_Intron			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	267					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTGAACAAAAAATTTTCAGTA	0.368000													28	39					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131302553	131302553	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131302553G>T	ENST00000309971.4	+	15	2070		c.e15-1		RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator						poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCCCTGTAGAATTGAAGCT	0.493000													9	28					1.12685e-05	1.24509e-05	1	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117785214	117785214	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:117785214C>T	ENST00000528626.1	-	3	540	c.467G>A	c.(466-468)gGc>gAc	p.G156D	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G191D|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G191D	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	186					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCTGTGTGGCCCTGCCAGAA	0.587000													112	206					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150858923	150858923	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150858923T>G	ENST00000243389.3	+	10	1255	c.1032T>G	c.(1030-1032)ttT>ttG	p.F344L	SLC36A1_ENST00000520701.1_Missense_Mutation_p.F344L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.F344L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	344					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCGGGATCTTTTTCACCTACG	0.522000													23	58					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219296879	219296879	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219296879G>A	ENST00000248444.5	+	12	1402	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	VIL1_ENST00000392114.2_Silent_p.K127K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	438	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGAGAAGCAGCATTACC	0.572000													18	28					0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639451	58639451	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:58639451C>T	ENST00000358781.2	-	3	381	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	24					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATGTAGCTTCGAATAAACAT	0.587000													36	84					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124102387	124102387	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124102387T>C	ENST00000238146.4	+	11	1182	c.1132T>C	c.(1132-1134)Tca>Cca	p.S378P	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Missense_Mutation_p.S347P	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	378	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATGGAAGAGTCATACATCAA	0.532000											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	60					0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57039021	57039021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57039021T>C	ENST00000262030.3	-	2	294	c.244A>G	c.(244-246)Att>Gtt	p.I82V	ATP5B_ENST00000552919.1_Missense_Mutation_p.I82V	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	82					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATTTAGAATTGGTGGTAGT	0.542000													14	78					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96157608	96157608	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96157608G>T	ENST00000340722.7	+	3	388	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	113										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCTGCAGATTGACTCTATGGA	0.587000													18	24					0.00074312	0.000783089	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120852900	120852900	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120852900T>G	ENST00000527524.2	+	20	2768	c.2481T>G	c.(2479-2481)ttT>ttG	p.F827L	GRIK4_ENST00000438375.2_Missense_Mutation_p.F827L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	827					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGTTGGAGTTTTTATGGACTC	0.433000													29	83					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563549	55563549	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563549C>A	ENST00000335605.1	+	1	518	c.518C>A	c.(517-519)cCt>cAt	p.P173H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTCTGGACCTAATGTAATC	0.507000													51	109					1.07234e-20	1.47176e-20	1	1	0
TMCO2	127391	broad.mit.edu	37	1	40717052	40717052	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40717052G>A	ENST00000372766.3	+	2	428	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	112						integral to membrane		p.R112Q(1)		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)			AGTGGTCTCCGAATTCAAGAC	0.368000													28	44					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154183841	154183841	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154183841G>T	ENST00000336314.4	+	14	2313	c.2289G>T	c.(2287-2289)gaG>gaT	p.E763D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	840							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTCCCGTGAGCACAGGCCCC	0.567000													38	75					1.56738e-10	1.93275e-10	1	1	0
RBMX2	51634	broad.mit.edu	37	X	129545332	129545332	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129545332G>T	ENST00000305536.6	+	5	378	c.314G>T	c.(313-315)aGa>aTa	p.R105I	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	105	RRM.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ATCAAAGGAAGAACTATCCGA	0.458000													6	97					0.00116845	0.00122532	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17202841	17202841	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17202841C>T	ENST00000261381.6	-	12	2675	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	864					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTAGGCATTGCGGAGGGGCCC	0.567000													20	42					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161530819	161530819	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161530819T>C	ENST00000392142.4	+	23	4417	c.4269T>C	c.(4267-4269)gaT>gaC	p.D1423D	MAP3K4_ENST00000366919.2_Silent_p.D1373D|MAP3K4_ENST00000366920.2_Silent_p.D1419D|MAP3K4_ENST00000348824.7_Silent_p.D1369D	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1423	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGTACTGCGATGAGGGGACTT	0.458000													17	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498763	179498763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179498763C>A	ENST00000589042.1	-	231	42687	c.42463G>T	c.(42463-42465)Gaa>Taa	p.E14155*	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5282*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5215*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E11587*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5090*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E12514*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12514	Fibronectin type-III 2.						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)			GTTTCACCTTCTTTTACTGTT	0.358000													27	58					3.01185e-09	3.60563e-09	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83823879	83823879	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83823879G>A	ENST00000265362.3	-	1	338	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SEMA3A_ENST00000436949.1_Silent_p.V8V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	8					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGAAAAGACAGACAATCCTAG	0.428000													41	69					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881929	69881929	+	Missense_Mutation	SNP	C	C	T	rs143574079	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69881929C>T	ENST00000358913.5	+	2	1222	c.734C>T	c.(733-735)gCg>gTg	p.A245V	MYPN_ENST00000373675.3_Missense_Mutation_p.A245V|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.A245V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	245	Interaction with CARP.					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						GCCAGTGAGGCGGCTGGTGGA	0.567000													19	38					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555424	41555424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555424A>G	ENST00000378142.4	+	3	822	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M180V	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	180						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TATAGTATGGATGCTTGCTCT	0.348000													22	55					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363533	22363533	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22363533C>A	ENST00000397121.2	-	3	1303	c.986G>T	c.(985-987)aGa>aTa	p.R329I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.408000													8	78					9.31168e-06	1.03131e-05	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79028699	79028699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028699G>T	ENST00000446378.2	+	2	4142	c.4111G>T	c.(4111-4113)Gaa>Taa	p.E1371*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1371						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)		AGCAGTAAAAGAAGAAATCCC	0.383000													15	16					3.27435e-08	3.83577e-08	1	1	0
HYKK	123688	broad.mit.edu	37	15	78805633	78805633	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78805633A>G	ENST00000566332.1	+	2	263	c.203A>G	c.(202-204)aAc>aGc	p.N68S	HYKK_ENST00000408962.2_Missense_Mutation_p.N68S|HYKK_ENST00000388988.4_Missense_Mutation_p.N68S|HYKK_ENST00000360519.3_Missense_Mutation_p.N68S|HYKK_ENST00000569878.1_Missense_Mutation_p.N68S|HYKK_ENST00000563233.1_Missense_Mutation_p.N68S					hydroxylysine kinase																		AAAATAAGCAACACCAAGGCT	0.438000													34	73					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127721475	127721475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127721475C>T	ENST00000354725.3	+	18	2226	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	678					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGAGAAGGAGCGATCTGCTAG	0.592000													13	18					0	0	1	0	0
TRBV19	0	broad.mit.edu	37	7	142326879	142326879	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142326879G>A	ENST00000390393.3	+	0	385																											AGGACCCAGGGCAAGGGCTGA	0.473000													86	137					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115392	54115392	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54115392G>T	ENST00000548263.1	-	6	665	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.S173Y|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.S206Y			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	206					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGGGACCGGGAAATCCCCTG	0.542000													7	327					0.00198382	0.00207034	1	1	0
DNAJC10	54431	broad.mit.edu	37	2	183621186	183621186	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621186G>T	ENST00000264065.6	+	18	2214	c.1799G>T	c.(1798-1800)aGa>aTa	p.R600I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	600	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATGGAAAAGAATGGCCCGG	0.338000													21	31					4.35082e-09	5.20082e-09	1	1	0
SSUH2	51066	broad.mit.edu	37	3	8667970	8667970	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8667970C>T	ENST00000317371.4	-	16	1871	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T					ssu-2 homolog (C. elegans)																		TTGCAGGTGGCGCAGGTCTTG	0.572000													53	102					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151633298	151633298	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151633298A>C	ENST00000368843.3	+	4	881	c.761A>C	c.(760-762)gAg>gCg	p.E254A	SNX27_ENST00000368838.1_Missense_Mutation_p.E161A|SNX27_ENST00000458013.2_Missense_Mutation_p.E254A	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	254	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTAATTGGTGAGAGTGACATC	0.348000													9	50					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40498296	40498296	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40498296C>T	ENST00000378426.1	-	2	676	c.79G>A	c.(79-81)Gat>Aat	p.D27N	CXorf38_ENST00000378421.1_Missense_Mutation_p.D27N|CXorf38_ENST00000327877.5_Missense_Mutation_p.D146N|CXorf38_ENST00000440784.2_Intron			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	146										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ACGAAGTGATCGCAGGAGTTG	0.493000													18	35					0	0	1	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355133	41355133	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41355133T>G	ENST00000357743.4	+	2	418	c.217T>G	c.(217-219)Tta>Gta	p.L73V	GOLGA7_ENST00000405786.2_Missense_Mutation_p.L73V|GOLGA7_ENST00000520817.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000518270.1_Missense_Mutation_p.L73V	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	73						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGCTTGTTTAACAGCATA	0.388000													46	79					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32772699	32772699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32772699C>T	ENST00000427716.2	+	11	1830	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	FGD4_ENST00000525053.1_Missense_Mutation_p.T581I|FGD4_ENST00000546442.1_Missense_Mutation_p.T376I|FGD4_ENST00000266482.3_Missense_Mutation_p.T221I|FGD4_ENST00000531134.1_Missense_Mutation_p.T554I|FGD4_ENST00000534526.2_Missense_Mutation_p.T606I|FGD4_ENST00000381025.3_Missense_Mutation_p.T221I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	469	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACAGTTCGAACCAGGGTTGGC	0.413000													29	64					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21460309	21460309	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21460309C>T	ENST00000339374.6	+	4	624	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	METTL17_ENST00000556670.2_Missense_Mutation_p.R131C|METTL17_ENST00000382985.4_Missense_Mutation_p.R131C|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	131					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGAGAAACTTCGTGGAGCAGT	0.483000													32	57					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	351				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388000													15	8					0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46851312	46851312	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46851312G>A	ENST00000238892.3	+	5	384	c.252G>A	c.(250-252)gcG>gcA	p.A84A	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	84						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCATCTGTGCGATGTGTGGAA	0.328000													10	37					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92090712	92090712	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92090712A>C	ENST00000285420.4	+	4	633	c.534A>C	c.(532-534)gaA>gaC	p.E178D	OTUD6B_ENST00000404789.3_Missense_Mutation_p.E47D	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	148	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GACAGTTAGAAATTAAACAGA	0.398000													11	14					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179869292	179869292	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179869292C>T	ENST00000435319.3	+	4	833	c.642C>T	c.(640-642)ttC>ttT	p.F214F	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Silent_p.F215F	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	214						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGGTCAATTTCTCTGAAGAAG	0.279000													12	9					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26775334	26775334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:26775334C>A	ENST00000381340.3	-	25	3543	c.3127G>T	c.(3127-3129)Gaa>Taa	p.E1043*	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1043					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.E1043*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGATTTTTTTCTTTTCTATAA	0.373000													6	5					3.59834e-05	3.93264e-05	1	1	0
FPR2	2358	broad.mit.edu	37	19	52271959	52271959	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52271959C>A	ENST00000598776.1	+	2	820	c.48C>A	c.(46-48)tcC>tcA	p.S16S	FPR2_ENST00000340023.6_Silent_p.S16S|FPR2_ENST00000598953.1_Silent_p.S16S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	16					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGAAGTGTCCTATGAGTCTG	0.517000													24	50					4.4004e-07	5.01286e-07	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152845520	152845520	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152845520G>A	ENST00000263519.4	+	20	3553	c.3427G>A	c.(3427-3429)Gcc>Acc	p.A1143T	ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A1143T|ATP2B3_ENST00000370181.2_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1143					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGCCACGCCCGA	0.592000													92	220					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780585	96780585	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96780585C>T	ENST00000409345.3	-	1	1399	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	438					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CAGGATCCTCCGGAAGGCACG	0.632000													13	17					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053551	135053551	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135053551C>A	ENST00000325980.9	+	3	1029	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	173					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACTCAACGTCTTCTGGCCTT	0.637000													24	48					2.21704e-12	2.79328e-12	1	1	0
CASP7	840	broad.mit.edu	37	10	115489079	115489079	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115489079C>T	ENST00000369321.2	+	8	1111	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CASP7_ENST00000369331.4_Missense_Mutation_p.R220C|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L|CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000345633.4_Missense_Mutation_p.S231L|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	231					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GGCTATTACTCGTGGAGGAGC	0.507000													26	56					0	0	1	0	0
PCDHB14	0	broad.mit.edu	37	5	140603677	140603677	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140603677A>C	ENST00000239449.4	+	1	600	c.600A>C	c.(598-600)ttA>ttC	p.L200F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L47F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		200	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGAGCTTTAGATTATGAAC	0.443000													36	53					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57950065	57950065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57950065G>A	ENST00000564448.1	-	22	2227	c.2167C>T	c.(2167-2169)Cga>Tga	p.R723*	CNGB1_ENST00000251102.8_Nonsense_Mutation_p.R729*			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	729					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TAGTTATTTCGCATGTCCTTT	0.512000													39	64					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95242363	95242363	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95242363G>T	ENST00000237853.4	-	5	954	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	202					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGCCTCTGAGAGATGGTGCT	0.488000													17	100					1.15088e-07	1.32965e-07	1	1	0
PHF6	84295	broad.mit.edu	37	X	133527538	133527538	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133527538C>A	ENST00000332070.3	+	4	450	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	PHF6_ENST00000416404.2_Missense_Mutation_p.S49Y|PHF6_ENST00000370803.3_Missense_Mutation_p.S83Y|PHF6_ENST00000370800.4_Missense_Mutation_p.S83Y|PHF6_ENST00000370799.1_Missense_Mutation_p.S83Y|PHF6_ENST00000394292.1_Missense_Mutation_p.S83Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAGATGTGTTCTTTGTGCCAT	0.368000			"""F, N, Splice, Mis"""		ETP ALL								40	60					9.39024e-22	1.29924e-21	1	1	0
GRIPAP1	56850	broad.mit.edu	37	X	48839393	48839393	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48839393C>T	ENST00000376423.4	-	16	1470	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E502K|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E533K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E488K|GRIPAP1_ENST00000473581.1_5'UTR	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	533						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACTCACCTCGGCTTCCTTC	0.557000													13	35					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690361	33690361	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33690361T>G	ENST00000394566.1	-	4	738	c.466A>C	c.(466-468)Agg>Cgg	p.R156R	SLFN11_ENST00000308377.4_Silent_p.R156R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	156						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGGCTTCCTTTTGGTCTTC	0.483000													38	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049889	9049889	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9049889G>A	ENST00000397910.4	-	5	31945	c.31742C>T	c.(31741-31743)cCg>cTg	p.P10581L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10583	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						TTGAATAACCGGACTTCTCTC	0.483000													47	55					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69652184	69652184	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69652184G>T	ENST00000453994.2	+	14	1849	c.1488G>T	c.(1486-1488)gtG>gtT	p.V496V	GDPD2_ENST00000536730.1_Silent_p.V366V|GDPD2_ENST00000374382.3_Silent_p.V445V|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.V366V	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	445					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATGTCTCGGTGAACCTATTTG	0.537000													42	89					1.91658e-06	2.15367e-06	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158064879	158064879	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158064879G>A	ENST00000368172.1	+	11	1697	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	KIRREL_ENST00000359209.6_Missense_Mutation_p.R748Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R584Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R645Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R648Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R764Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	748						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACGGCCAGCGATTCCAGCAG	0.607000													11	20					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929515	32929515	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929515T>G	ENST00000361627.3	+	12	3263	c.2541T>G	c.(2539-2541)tcT>tcG	p.S847S	ARHGAP11A_ENST00000543522.1_Silent_p.S658S|ARHGAP11A_ENST00000565905.1_Silent_p.S658S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	847					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAATTAATTCTTTGTTGGAGT	0.408000													40	54					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655715	40655715	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40655715T>C	ENST00000406785.1	-	2	1895	c.1706A>G	c.(1705-1707)aAt>aGt	p.N569S	SLC8A1_ENST00000408028.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.N569S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.N569S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.N569S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	569	Calx-beta 2.				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)	AACGATAACATTTCCTCGAGC	0.453000													20	63					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332337	70332337	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70332337G>A	ENST00000373644.4	+	2	451	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	81					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.R81H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGAGCAGCACGCATGAATTTG	0.438000													38	85					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924334	226924334	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:226924334C>A	ENST00000429204.1	-	2	1153	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	ITPKB_ENST00000272117.3_Missense_Mutation_p.D276Y|ITPKB_ENST00000366784.1_Missense_Mutation_p.D276Y	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	276							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCCCTTTTGTCAATTTCCATA	0.587000													27	47					6.32553e-13	8.04352e-13	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166848303	166848303	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166848303A>C	ENST00000423058.2	-	26	5499	c.5482T>G	c.(5482-5484)Tta>Gta	p.L1828V	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1800V|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1817V|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1828V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1828						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACTGAGATAATTTTTCAAAT	0.468000													48	78					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162802	141162802	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141162802T>G	ENST00000514251.1	+	4	1851	c.1572T>G	c.(1570-1572)acT>acG	p.T524T	ZBTB38_ENST00000441582.2_Silent_p.T524T|ZBTB38_ENST00000321464.5_Silent_p.T525T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	524					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCTTGAAACTTTCATGACCT	0.383000													25	38					0	0	1	0	0
LY75-CD302	0	broad.mit.edu	37	2	160637474	160637474	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160637474T>G	ENST00000504764.1	-	36	5164	c.5137A>C	c.(5137-5139)Aat>Cat	p.N1713H	CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_Missense_Mutation_p.N72H|CD302_ENST00000429078.2_Missense_Mutation_p.N72H|LY75_ENST00000554112.1_Missense_Mutation_p.N1713H|LY75_ENST00000553424.1_Missense_Mutation_p.N1657H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1657H	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1581					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATAAAAGCATTTTCTTCTTCA	0.343000													17	25					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138559762	138559762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:138559762G>T	ENST00000251691.4	+	6	703	c.537G>T	c.(535-537)gaG>gaT	p.E179D		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	179					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGCAGGAGAATACGGTGA	0.557000													46	80					1.48734e-19	2.02648e-19	1	1	0
PHF19	26147	broad.mit.edu	37	9	123620323	123620323	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123620323G>A	ENST00000373896.3	-	15	1894	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.R339W	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGCCAACCGCCCAGCTGCA	0.557000													36	45					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423164	19423164	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19423164G>A	ENST00000333130.3	+	4	953	c.300G>A	c.(298-300)gaG>gaA	p.E100E	HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	100					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTTGCAGAGAGCGGCCTCAGG	0.507000													40	290					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151153217	151153217	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151153217G>A	ENST00000367328.1	+	16	3282	c.2970G>A	c.(2968-2970)gcG>gcA	p.A990A	PLEKHG1_ENST00000358517.2_Silent_p.A990A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	990					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTAAGAAGGCGAATCAACTTT	0.498000													107	135					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693266	69693266	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69693266C>T	ENST00000265403.7	+	5	1334	c.1307_splice	c.e5+1	p.S436_splice	UGT2B10_ENST00000458688.2_Splice_Site_p.S352_splice	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	436					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGATCCTTCGTGAGTAGAA	0.388000													40	79					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107832197	107832197	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107832197C>T	ENST00000379028.3	-	18	2349	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	NRCAM_ENST00000379022.4_Missense_Mutation_p.A627T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A621T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A608T|NRCAM_ENST00000425651.2_Missense_Mutation_p.A627T|NRCAM_ENST00000413765.2_Missense_Mutation_p.A608T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	627	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						ACAGCGCTGGCGGAGACGCTG	0.453000													12	31					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371571	126371571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126371571G>T	ENST00000394329.3	+	9	9413	c.9400G>T	c.(9400-9402)Gaa>Taa	p.E3134*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1432*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3134	Cadherin 30.				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						AGGAAATGAAGAAGGCATTTT	0.393000													10	38					7.48243e-07	8.49459e-07	1	1	0
PMAIP1	5366	broad.mit.edu	37	18	57569963	57569963	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569963A>C	ENST00000316660.6	+	2	373	c.143A>C	c.(142-144)aAa>aCa	p.K48T	PMAIP1_ENST00000269518.9_Missense_Mutation_p.Q98H	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	48	Required for mitochondrial location.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				CTGATATCCAAACTCTTCTGC	0.438000													18	33					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673107	75673107	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75673107T>C	ENST00000446342.1	+	5	859	c.377T>C	c.(376-378)gTc>gCc	p.V126A	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.V143A|PLAU_ENST00000372762.4_Missense_Mutation_p.V107A	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	143	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AAGCTGCTTGTCCAAGAGTGC	0.542000													41	73					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667564	50667564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50667564C>T	ENST00000268459.3	+	10	1509	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	429					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGTCCTGGGGCGGGAGCACCT	0.682000													5	15					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978379	54978379	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54978379G>A	ENST00000375006.3	-	8	875	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204C	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	269	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCTCCGATGCGGCCTCTGATG	0.587000													8	19					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17179423	17179423	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17179423C>A	ENST00000539941.2	-	2	259	c.51G>T	c.(49-51)aaG>aaT	p.K17N	COPS3_ENST00000439936.2_Missense_Mutation_p.K17N|COPS3_ENST00000268717.5_Missense_Mutation_p.K37N	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	37					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGATAAGTTCTTCGCAAGGA	0.458000													20	45					5.35267e-07	6.09026e-07	1	1	0
SGOL2	151246	broad.mit.edu	37	2	201437691	201437691	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437691T>G	ENST00000357799.4	+	7	2720	c.2622T>G	c.(2620-2622)aaT>aaG	p.N874K		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)	874					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						ATAATGGAAATTTATGTGATT	0.308000													6	70					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102991	113102991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102991C>A	ENST00000316851.7	+	10	1310	c.1310C>A	c.(1309-1311)tCa>tAa	p.S437*	NCAM1_ENST00000533760.1_Nonsense_Mutation_p.S319*|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.S446*	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	447	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCACGATCTCATGGTTTCGG	0.552000													15	42					0.000308642	0.000328443	1	1	0
NAA30	122830	broad.mit.edu	37	14	57876118	57876118	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:57876118A>G	ENST00000556492.1	+	5	1127	c.973A>G	c.(973-975)Aca>Gca	p.T325A	NAA30_ENST00000554703.1_Missense_Mutation_p.N48S|NAA30_ENST00000555166.1_Missense_Mutation_p.T67A	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	325	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AACCGAAATAACAAATAAGTC	0.274000													13	27					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:6843914C>T	ENST00000307659.5	+	4	807	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	118							ATP binding	p.R118*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGTCTTCGATCTGCTTC	0.348000													23	43					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108145727	108145727	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108145727A>C	ENST00000228437.5	-	5	1050	c.591T>G	c.(589-591)gtT>gtG	p.V197V	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	197					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TAACCCTAGAAACGTTCTCCA	0.512000													37	51					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170843295	170843295	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170843295G>A	ENST00000272793.5	+	25	3825	c.3775G>A	c.(3775-3777)Gca>Aca	p.A1259T	UBR3_ENST00000392631.1_Missense_Mutation_p.A80T|UBR3_ENST00000418381.1_Missense_Mutation_p.A1259T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1259					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACTGTTACAAGCATCCTCAGG	0.353000													28	35					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102502923	102502923	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102502923G>A	ENST00000360184.4	+	57	11016	c.10852G>A	c.(10852-10854)Gcc>Acc	p.A3618T	RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3618	AAA 5 (By similarity).				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						CCTGGATGACGCCTTCAGAAA	0.468000													8	119					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529438	113529438	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113529438C>T	ENST00000297405.5	-	28	4825	c.4581G>A	c.(4579-4581)gcG>gcA	p.A1527A	CSMD3_ENST00000343508.3_Silent_p.A1487A|CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000352409.3_Silent_p.A1527A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1527	Sushi 8.					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						GGTCACGACACGCAGTGGCAA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	18					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13251302	13251302	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13251302G>T	ENST00000262487.3	+	2	296	c.290G>T	c.(289-291)aGa>aTa	p.R97I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	97						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATTGCAAAGAGATTTCCCC	0.498000													12	32					1.08611e-07	1.25818e-07	1	1	0
KIF20B	9585	broad.mit.edu	37	10	91468967	91468967	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91468967G>A	ENST00000416354.1	+	3	263	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	KIF20B_ENST00000394289.2_Missense_Mutation_p.R64Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.R64Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R64Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	64	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTTTGTCTTCGAATAAGACCA	0.294000													9	44					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335924	141335924	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141335924C>T	ENST00000231484.3	-	1	2703	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	498	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTGGATGCGGTATGAGAC	0.483000													21	41					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141567	103141567	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103141567T>G	ENST00000295269.4	+	10	2360	c.1903T>G	c.(1903-1905)Tta>Gta	p.L635V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	635					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						CCAGAACACCTTAAGGGAGAG	0.512000													83	116					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325059	74325059	+	Missense_Mutation	SNP	G	G	A	rs150686745		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74325059G>A	ENST00000355773.5	-	8	1358	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	364					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	p.R364C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATTCTGCGAACACATAAA	0.343000													21	31					0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98277092	98277092	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98277092T>C	ENST00000289228.5	-	3	347	c.131A>G	c.(130-132)cAc>cGc	p.H44R		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	44						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CACCCGCATGTGCTTCGGCCG	0.597000													39	77					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94816756	94816756	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94816756C>T	ENST00000371552.4	+	21	2259	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	EXOC6_ENST00000443748.2_Missense_Mutation_p.R646W|EXOC6_ENST00000260762.6_Missense_Mutation_p.R749W|EXOC6_ENST00000371547.4_Missense_Mutation_p.R765W	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	749					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAAGTACCTTCGGGTGAATCC	0.403000													24	38					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12127029	12127029	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12127029C>T	ENST00000419886.2	-	5	839	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R218Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTGTGAGTTCGTTTGTGGAT	0.403000													16	41					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46995427	46995427	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:46995427C>A	ENST00000264318.3	-	1	997	c.15G>T	c.(13-15)aaG>aaT	p.K5N	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	5					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGGTACCTTCTTGGCAGAAA	0.602000													28	50					9.39395e-14	1.21013e-13	1	1	0
TRIM68	55128	broad.mit.edu	37	11	4623410	4623410	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4623410G>A	ENST00000300747.5	-	4	1044	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	252					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGCCTCTGCGACCTCTCTTT	0.537000													31	47					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	660						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413000													3	24					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578064	155578064	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155578064G>T	ENST00000461783.3	+	29	6188	c.4915G>T	c.(4915-4917)Gcc>Tcc	p.A1639S	TIAM2_ENST00000456877.2_Missense_Mutation_p.A951S|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564S|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663S|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668S|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639S|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170).	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAAACGAAAAGCCAACAGCAC	0.572000													5	56					1.23904e-05	1.36503e-05	1	1	0
RPS14	6208	broad.mit.edu	37	5	149826514	149826514	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149826514G>A	ENST00000401695.3	-	3	208	c.162C>T	c.(160-162)tgC>tgT	p.C54C	RPS14_ENST00000312037.5_Silent_p.C54C|RPS14_ENST00000407193.1_Silent_p.C54C			P62263	RS14_HUMAN	ribosomal protein S14	54					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCACACGGCAGATGGTTT	0.522000													23	56					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94874756	94874756	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94874756C>T	ENST00000262554.2	-	2	151	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	SPTLC1_ENST00000337841.4_Missense_Mutation_p.R49Q|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	49						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGATCAGATCGTTCTTGTAA	0.363000													6	19					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85439838	85439838	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85439838A>C	ENST00000393217.2	+	5	438	c.377A>C	c.(376-378)aAa>aCa	p.K126T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	126										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGAGAAGTAAAACCGATTGT	0.348000													17	23					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216964	111216964	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216964G>A	ENST00000369769.2	-	1	691	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	156						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATGGCGTCGAAGCTGGGCC	0.642000													53	107					0	0	1	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31810034	31810034	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31810034G>A	ENST00000373714.1	+	4	398	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R22Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R46Q|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R38Q			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	46	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		CTGGTCCATCGAACTCATATG	0.438000													33	51					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190380	72190380	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72190380C>A	ENST00000356056.5	-	25	4936	c.4464G>T	c.(4462-4464)aaG>aaT	p.K1488N	MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1488	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAACTTCTTAAGCACAG	0.378000													16	42					6.94344e-10	8.4399e-10	1	1	0
FAR1	84188	broad.mit.edu	37	11	13733490	13733490	+	Missense_Mutation	SNP	C	C	A	rs150190417		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13733490C>A	ENST00000354817.3	+	7	928	c.784C>A	c.(784-786)Ctt>Att	p.L262I	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	262					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	p.L262F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAAAGGAATTCTTCGAACAAT	0.368000													10	30					1.33987e-11	1.67053e-11	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32651209	32651209	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32651209A>C	ENST00000266086.4	-	1	119	c.108T>G	c.(106-108)ttT>ttG	p.F36L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	36					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCACCACCAGAAAATAGATGA	0.542000													76	120					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134563304	134563304	+	Silent	SNP	C	C	T	rs149439109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:134563304C>T	ENST00000368594.3	+	11	1135	c.858C>T	c.(856-858)ttC>ttT	p.F286F	INPP5A_ENST00000368593.3_Silent_p.F286F	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	286					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGAAACTCTTCGACTACTTCA	0.582000													5	153					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471533	47471533	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:47471533T>C	ENST00000266581.4	-	2	1719	c.1253A>G	c.(1252-1254)tAt>tGt	p.Y418C	AMIGO2_ENST00000429635.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.Y418C	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	418					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGGAGTCAGATAGAGGTACAA	0.463000													27	34					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59886056	59886056	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59886056C>T	ENST00000259008.2	-	7	957	c.690G>A	c.(688-690)tcG>tcA	p.S230S	BRIP1_ENST00000577598.1_Silent_p.S230S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	230	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAATGGTATTCGATGACTCTT	0.408000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					23	38					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132479477	132479477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132479477G>T	ENST00000333577.4	+	13	3020	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	EP400_ENST00000330386.6_Nonsense_Mutation_p.E935*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E935*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E934*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E898*			Q96L91	EP400_HUMAN	E1A binding protein p400	971	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCAAACAGAACTTTCTAA	0.373000													17	73					3.52763e-06	3.92945e-06	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81193409	81193409	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81193409C>T	ENST00000525539.1	-	0	3713				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGGATCCACGTGGGCAGCT	0.587000													6	12					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505121	70505121	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70505121A>C	ENST00000310961.5	+	22	3933	c.3515A>C	c.(3514-3516)aAa>aCa	p.K1172T	LRRC7_ENST00000415775.2_Missense_Mutation_p.K451T|LRRC7_ENST00000035383.5_Missense_Mutation_p.K1167T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1167						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTCCTGAAAAGGAATGGC	0.512000													23	58					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574497	60574497	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:60574497T>G	ENST00000406854.1	+	2	695	c.141T>G	c.(139-141)ctT>ctG	p.L47L	PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000391611.2_Silent_p.L47L|PCNXL4_ENST00000404681.2_Silent_p.L47L|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)																		AAATTATTCTTTTTCTAATGC	0.413000													21	34					0	0	1	0	0
FAM174A	345757	broad.mit.edu	37	5	99871609	99871609	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:99871609G>A	ENST00000312637.4	+	1	601	c.375G>A	c.(373-375)ctG>ctA	p.L125L		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	125						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGCGGGCCCTGACCGTGTTGA	0.682000													17	38					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614322	87614322	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87614322C>T	ENST00000327946.7	-	8	1249	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	388						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CATAGGGATTCGAACTGTCCT	0.488000										Multiple Myeloma(13;0.14)			29	53					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469090	72469090	+	Missense_Mutation	SNP	G	G	A	rs142247362		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:72469090G>A	ENST00000296776.5	+	1	69	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	7						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGCAGCGGCCGCTTGGAGGAC	0.552000													10	148					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99323520	99323520	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99323520A>C	ENST00000369244.2	-	9	1901	c.1473T>G	c.(1471-1473)aaT>aaG	p.N491K	FBXL4_ENST00000229971.1_Missense_Mutation_p.N491K			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	491					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCTCAGTAATATTCTTACATC	0.468000													11	62					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670325	74670325	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74670325G>A	ENST00000370898.2	+	4	631	c.594G>A	c.(592-594)acG>acA	p.T198T	FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370893.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CTAGTTTGACGATAGGTACCA	0.373000													12	29					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30728192	30728192	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30728192T>G	ENST00000263056.1	+	3	1021	c.325T>G	c.(325-327)Tta>Gta	p.L109V	MAP3K8_ENST00000375321.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000375322.2_Missense_Mutation_p.L109V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.L109V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	109					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATCTGGAATTTTATTAAACAT	0.403000													25	32					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949728	45949728	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45949728G>T	ENST00000323084.4	-	5	808	c.743C>A	c.(742-744)gCt>gAt	p.A248D	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A180D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	248					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCGTGAGAGCCTGCAGGAC	0.642000													15	42					2.32078e-09	2.7896e-09	1	1	0
CHIAP2	0	broad.mit.edu	37	1	111825216	111825216	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111825216C>A	ENST00000369743.4	+	0	1005					NR_003928.1																						GTTTCCACTCCTGAGAACCAC	0.512000													31	61					1.22384e-17	1.64553e-17	1	1	0
RP1	6101	broad.mit.edu	37	8	55542167	55542167	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55542167A>G	ENST00000220676.1	+	4	5873	c.5725A>G	c.(5725-5727)Aaa>Gaa	p.K1909E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1909					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCTTTGGATAAACTGTATGC	0.398000													29	40					0	0	1	0	0
EIF2S1	1965	broad.mit.edu	37	14	67847476	67847476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67847476C>T	ENST00000256383.4	+	5	1035	c.574C>T	c.(574-576)Cga>Tga	p.R192*	EIF2S1_ENST00000466499.2_Nonsense_Mutation_p.R192*	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	192						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TGTCAAAATTCGAGCAGGTAA	0.318000													12	28					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541124	55541124	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541124A>C	ENST00000220676.1	+	4	4830	c.4682A>C	c.(4681-4683)aAa>aCa	p.K1561T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1561					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGATGGTAAAAATGATGGTG	0.363000													17	17					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57724861	57724861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57724861C>T	ENST00000269122.3	+	3	627	c.353C>T	c.(352-354)aCg>aTg	p.T118M	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.T118M	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	118	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTTTGAATACGGTTGCTCTT	0.403000			T	"""ALK, TFE3"""	"""ALCL, renal """								10	74					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78582038	78582038	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78582038C>T	ENST00000397909.2	+	32	5974	c.5801C>T	c.(5800-5802)tCt>tTt	p.S1934F	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.S1912F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1735F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1912F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1934						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						GACCAAAAATCTCAGGCATAT	0.313000										HNSCC(70;0.22)			19	26					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219473	23219473	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23219473C>T	ENST00000400191.3	+	7	1543	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	EPHB2_ENST00000374632.3_Missense_Mutation_p.R509W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R504W|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.R509W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	509	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTTCCAGGTGCGGGCACGCAC	0.607000													37	69					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107169924	107169924	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107169924A>G	ENST00000262843.6	+	10	2377	c.1829A>G	c.(1828-1830)aAa>aGa	p.K610R	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.K580R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	610	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTGCCTACAAATCAGCTCCA	0.398000													36	50					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210589	100210589	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100210589C>T	ENST00000317233.4	-	14	1769	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	AFF3_ENST00000409236.1_Missense_Mutation_p.D512N|AFF3_ENST00000409579.1_Missense_Mutation_p.D537N|AFF3_ENST00000356421.2_Missense_Mutation_p.D537N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	512					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCAAACGTCGGGGACTTTC	0.547000													61	120					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208583	65208583	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65208583C>T	ENST00000247226.7	+	14	2488	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S783L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S316L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S288L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	783				YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGCCGACTTCGTGGGCCCTG	0.592000													48	62					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91479274	91479274	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91479274A>C	ENST00000416354.1	+	13	1605	c.1533A>C	c.(1531-1533)aaA>aaC	p.K511N	KIF20B_ENST00000394289.2_Missense_Mutation_p.K511N|KIF20B_ENST00000371728.3_Missense_Mutation_p.K511N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K511N			Q96Q89	KI20B_HUMAN	kinesin family member 20B	511					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CAAACAGTAAAATATTAAATG	0.353000													11	20					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522975	23522975	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:23522975A>G	ENST00000296682.3	+	8	1045	c.863A>G	c.(862-864)aAc>aGc	p.N288S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	288	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGGCAGCCAACAATGGATAC	0.527000										HNSCC(3;0.000094)			38	71					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79979252	79979252	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79979252C>T	ENST00000373275.4	-	16	1861	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	549										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ctaacctttTCGTAGTATTTA	0.343000													16	24					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878372	234878372	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234878372T>C	ENST00000324695.4	+	16	2099	c.2059T>C	c.(2059-2061)Tcc>Ccc	p.S687P	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	687						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAGAGATTTCCCGAGACAC	0.398000													28	65					0	0	1	0	0
DNAJB9	4189	broad.mit.edu	37	7	108212299	108212299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:108212299G>T	ENST00000249356.3	+	2	675	c.129G>T	c.(127-129)aaG>aaT	p.K43N	DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	43	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GCCAAATCAAGAAGGCCTTTC	0.398000													46	87					8.86878e-18	1.19361e-17	1	1	0
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGACGCCTCGCAGAGCCGGT	0.592000													49	88					0	0	1	0	0
IER5L	389792	broad.mit.edu	37	9	131939486	131939486	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131939486G>A	ENST00000372491.2	-	1	1054	c.846C>T	c.(844-846)tgC>tgT	p.C282C	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	282													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CACAGCAGGGGCAGTGGGCGG	0.682000													6	18					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39567792	39567792	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39567792G>A	ENST00000262039.4	+	5	634	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R120Q	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	183					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAAGCTCATCGACAAGGACAC	0.328000										TSP Lung(28;0.18)			14	45					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651036	142651036	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142651036G>A	ENST00000355265.2	-	9	1406	c.932C>T	c.(931-933)gCc>gTc	p.A311V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	311					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATGGCGGGGGCCATTTCCTT	0.527000													32	66					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754412	76754412	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76754412C>T	ENST00000536229.3	+	1	2731	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SALL3_ENST00000537592.2_Silent_p.D807D|SALL3_ENST00000575389.2_Silent_p.D807D			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCATGGAGGACGACGCTGAGC	0.652000													15	25					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043459	117043459	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117043459G>T	ENST00000371876.1	-	4	3439	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	KLHL13_ENST00000262820.3_Missense_Mutation_p.L391I|KLHL13_ENST00000541812.1_Missense_Mutation_p.L375I|KLHL13_ENST00000371878.1_Missense_Mutation_p.L340I|KLHL13_ENST00000539496.1_Missense_Mutation_p.L394I|KLHL13_ENST00000545703.1_Missense_Mutation_p.L349I|KLHL13_ENST00000371882.1_Missense_Mutation_p.L340I|KLHL13_ENST00000469946.1_Missense_Mutation_p.L340I|KLHL13_ENST00000540167.1_Missense_Mutation_p.L375I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	391					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						ACCACATAGAGAAAATTTCCA	0.443000													28	52					9.39395e-14	1.21013e-13	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31087953	31087953	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31087953G>A	ENST00000394979.2	+	1	731	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R103H			O15015	ZN646_HUMAN	zinc finger protein 646	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGGGCCGCCGCAGGCACAGG	0.617000													30	32					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61555323	61555323	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61555323C>T	ENST00000290866.4	+	2	305	c.281C>T	c.(280-282)gCg>gTg	p.A94V	ACE_ENST00000538928.1_Missense_Mutation_p.A94V|ACE_ENST00000428043.1_Missense_Mutation_p.A94V|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	94	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGGAGTTTGCGGAGGCCTGG	0.617000													7	14					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660805	46660805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46660805C>A	ENST00000544460.1	+	1	5194	c.4940C>A	c.(4939-4941)tCt>tAt	p.S1647Y	TDRD6_ENST00000316081.6_Missense_Mutation_p.S1647Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1647					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATTATGTTCTCAAGAGGGA	0.393000													26	50					3.73148e-12	4.68978e-12	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49061728	49061728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49061728C>A	ENST00000376265.2	-	48	5864	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1870*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1924*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1935					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTGTCCATCTCATCCAGCGTC	0.592000													14	30					4.93089e-13	6.29573e-13	1	1	0
KBTBD7	84078	broad.mit.edu	37	13	41767897	41767897	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41767897C>T	ENST00000379483.3	-	1	805	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	166							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCAAGACGTCGGGCTAAGAA	0.572000													38	64					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87847193	87847193	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:87847193G>A	ENST00000243662.6	-	3	681	c.599C>T	c.(598-600)aCc>aTc	p.T200I	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	200					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAACCTTGGTTGATGTGAG	0.493000													39	66					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210849	37210849	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37210849T>G	ENST00000585696.1	+	3	2360	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R	ZNF567_ENST00000360729.4_Missense_Mutation_p.L377R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L377R|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.L377R|ZNF567_ENST00000536254.2_Missense_Mutation_p.L408R			Q8N184	ZN567_HUMAN	zinc finger protein 567	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGGCAAATCTTACTGTACAT	0.423000													24	35					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160831867	160831867	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160831867A>C	ENST00000392145.1	+	5	991	c.964A>C	c.(964-966)Aat>Cat	p.N322H	SLC22A3_ENST00000275300.2_Missense_Mutation_p.N322H			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	322						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)		CCTCTCATCAAATTACTCAGA	0.383000													10	15					0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179394008	179394008	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179394008C>T	ENST00000522208.2	-	7	966	c.948G>A	c.(946-948)ccG>ccA	p.P316P	RNF130_ENST00000521389.1_Silent_p.P316P|RNF130_ENST00000261947.4_Silent_p.P316P			Q86XS8	GOLI_HUMAN	ring finger protein 130	316					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAAATTCGGCTGCAAAA	0.423000													24	47					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27941062	27941062	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27941062C>A	ENST00000374005.3	-	11	1416	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	FGR_ENST00000545953.1_Missense_Mutation_p.M310I|FGR_ENST00000399173.1_Missense_Mutation_p.M376I|FGR_ENST00000374004.1_Missense_Mutation_p.M376I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	376	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAATGTAGTTCATGCGTTCCA	0.592000													11	17					0.00829132	0.00855608	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141641477	141641477	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141641477C>T	ENST00000389484.3	-	25	5049	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1360					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)		TTGGCCACTTCGATTTGGTCC	0.498000										TSP Lung(27;0.18)			35	56					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12531417	12531417	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12531417T>G	ENST00000444864.1	+	2	505	c.118T>G	c.(118-120)Ttc>Gtc	p.F40V	TSEN2_ENST00000454502.2_Missense_Mutation_p.F40V|TSEN2_ENST00000415684.1_Missense_Mutation_p.F40V|TSEN2_ENST00000402228.3_Missense_Mutation_p.F40V|TSEN2_ENST00000383797.5_Missense_Mutation_p.F40V|TSEN2_ENST00000314571.7_Missense_Mutation_p.F40V|TSEN2_ENST00000284995.6_Missense_Mutation_p.F40V	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	40					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTCAAGATATTCCGTGCTGA	0.448000													33	48					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315677	50315677	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50315677G>T	ENST00000332853.3	-	2	442	c.419C>A	c.(418-420)aCg>aAg	p.T140K	VSTM4_ENST00000298454.3_Missense_Mutation_p.T140K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	140	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGACCAGGCCGTCCACTTGTT	0.612000													30	42					1.50538e-07	1.73672e-07	1	1	0
DDX26B	203522	broad.mit.edu	37	X	134714991	134714991	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134714991C>A	ENST00000370752.4	+	16	2734	c.2400C>A	c.(2398-2400)ttC>ttA	p.F800L	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	800										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATTTTCATTTTGCTTG	0.308000													5	13					1.23904e-05	1.36503e-05	1	1	0
C12orf42	374470	broad.mit.edu	37	12	103700009	103700009	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:103700009T>G	ENST00000548048.1	-	8	669	c.173A>C	c.(172-174)gAa>gCa	p.E58A	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.E125A|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.E125A			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	125										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACGGAATTCTTCATAGCTTTC	0.453000													5	29					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37626108	37626108	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37626108C>T	ENST00000399151.3	+	23	5245	c.5160C>T	c.(5158-5160)gtC>gtT	p.V1720V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1720					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAACCCTTGTCGACTTGGTGT	0.493000													40	78					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058350	11058350	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11058350C>T	ENST00000470054.1	-	0	324									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)		AGAGAAATCTCTTTATAAAAC	0.343000													7	69					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054879	4054879	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4054879C>T	ENST00000322357.4	-	2	630	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A118T	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	118					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTCACGGCGGGGATCTCC	0.682000													12	9					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883729	60883729	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60883729A>C	ENST00000253003.2	+	10	1182	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T	LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	379	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCGTTTGCCAAAGCCATGCAG	0.552000													14	28					0	0	1	0	0
LPPR1	0	broad.mit.edu	37	9	104032271	104032271	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104032271C>A	ENST00000374874.3	+	3	612	c.173C>A	c.(172-174)cCt>cAt	p.P58H	LPPR1_ENST00000395056.2_Missense_Mutation_p.P58H	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		58						integral to membrane	catalytic activity										TTAATGAAGCCTTACCCAGGG	0.483000													7	38					8.12818e-05	8.79784e-05	1	1	0
DPF3	8110	broad.mit.edu	37	14	73138003	73138003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:73138003G>A	ENST00000541685.1	-	9	927	c.915C>T	c.(913-915)gcC>gcT	p.A305A	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.A315A	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	134					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TACGTGCTGCGGCCGCTGCCT	0.498000													31	43					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18438680	18438680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:18438680C>A	ENST00000338745.6	-	6	2476	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	248	Nuclear matrix targeting sequence (NMTS).				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	p.D248Y(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCATCATATCTTTTGTCTTC	0.368000													17	44					9.16793e-09	1.08598e-08	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38810576	38810576	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810576G>T	ENST00000359357.3	+	33	4345	c.4091G>T	c.(4090-4092)aGa>aTa	p.R1364I	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581I|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364I					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						CACTGGGATAGAATCTCCGAG	0.383000													51	15					8.94452e-30	1.27491e-29	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108685654	108685654	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108685654C>A	ENST00000312143.7	-	3	1449	c.1086G>T	c.(1084-1086)agG>agT	p.R362S	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R360S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R360S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	362					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCATAGAAGTCCTCTCATTCA	0.498000													21	60					6.33239e-15	8.29613e-15	1	1	0
PFN2	5217	broad.mit.edu	37	3	149686293	149686293	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:149686293G>T	ENST00000239940.7	-	2	429	c.177C>A	c.(175-177)ttC>ttA	p.F59L	PFN2_ENST00000423691.2_Missense_Mutation_p.F59L|PFN2_ENST00000498307.1_Missense_Mutation_p.F10L|PFN2_ENST00000497148.1_Missense_Mutation_p.F10L|PFN2_ENST00000494827.1_Missense_Mutation_p.F10L|PFN2_ENST00000490975.1_Missense_Mutation_p.F59L|PFN2_ENST00000489155.1_Missense_Mutation_p.F10L|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481767.1_Missense_Mutation_p.F10L|PFN2_ENST00000481275.1_Missense_Mutation_p.F10L|PFN2_ENST00000475518.1_Missense_Mutation_p.F10L|PFN2_ENST00000461868.1_Missense_Mutation_p.F59L|PFN2_ENST00000452853.2_Missense_Mutation_p.F59L			P35080	PROF2_HUMAN	profilin 2	59					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGTTGGTAAAGAAACCTTCCC	0.418000													10	159					1.58986e-06	1.78832e-06	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36671793	36671793	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:36671793T>G	ENST00000399881.3	+	8	838	c.801T>G	c.(799-801)atT>atG	p.I267M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	267						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGAGTCAATTTACCTGGTCA	0.433000													12	18					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54948368	54948368	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54948368A>C	ENST00000539768.1	-	8	940	c.941T>G	c.(940-942)tTt>tGt	p.F314C	SLC38A9_ENST00000396865.2_Missense_Mutation_p.F314C|SLC38A9_ENST00000416547.2_Missense_Mutation_p.F190C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.F314C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.F287C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F251C			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	314					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGATATTAAATTTTGAAAA	0.403000													6	16					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100374	27100374	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27100374T>G	ENST00000324856.7	+	17	4457	c.4086T>G	c.(4084-4086)taT>taG	p.Y1362*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y1362*|ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y979*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1362	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACAATGTATCAACAGCAAC	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								76	128					0	0	1	0	0
RP11-813I20.2	0	broad.mit.edu	37	14	56233531	56233531	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56233531C>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CTGTTAATTTCTCATGCTTGG	0.572000													4	8					0.00909568	0.00935351	1	1	0
DNAJA4	55466	broad.mit.edu	37	15	78557106	78557106	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78557106A>C	ENST00000394855.3	+	2	316	c.88A>C	c.(88-90)Atg>Ctg	p.M30L	DNAJA4_ENST00000394852.3_Start_Codon_SNP_p.M1L|DNAJA4_ENST00000343789.3_Start_Codon_SNP_p.M1L|DNAJA4_ENST00000489435.2_Missense_Mutation_p.M30L	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	1	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGACACAAGATGGTGAAGGA	0.721000													8	21					0	0	1	0	0
POMP	51371	broad.mit.edu	37	13	29246494	29246494	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:29246494C>A	ENST00000380842.4	+	5	364	c.283C>A	c.(283-285)Ctt>Att	p.L95I	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	95					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCTTCCATTTCTTTCAAGCTC	0.353000													25	49					5.45024e-15	7.15042e-15	1	1	0
NPNT	255743	broad.mit.edu	37	4	106879674	106879674	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106879674A>G	ENST00000379987.2	+	9	1422	c.1206A>G	c.(1204-1206)gaA>gaG	p.E402E	NPNT_ENST00000506666.1_Intron|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000453617.2_Silent_p.E419E|NPNT_ENST00000427316.2_Silent_p.E432E|NPNT_ENST00000514622.1_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	402					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)		TTGAAATAGAAAGAGGAGTCA	0.373000													8	20					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122161826	122161826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122161826G>A	ENST00000379516.2	+	12	1402	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SNX2_ENST00000514949.1_Missense_Mutation_p.A315T|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	432					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGAAGCTGAAGCAAAAATGAT	0.338000													13	25					0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804162	160804162	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160804162T>C	ENST00000392781.2	-	8	1128	c.381A>G	c.(379-381)aaA>aaG	p.K127K	B3GALNT1_ENST00000392780.1_Silent_p.K127K|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.K127K|B3GALNT1_ENST00000320474.4_Silent_p.K127K|B3GALNT1_ENST00000392779.2_Silent_p.K127K|B3GALNT1_ENST00000473285.1_Silent_p.K127K	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	127					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATGCCAACATTTTGTCTTCCT	0.383000													23	44					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701117	30701117	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701117A>C	ENST00000256246.2	-	1	5491	c.5417T>G	c.(5416-5418)tTt>tGt	p.F1806C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1806										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAAAGAGAAAAATCAAAGCA	0.323000													19	33					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059536C>T	ENST00000537741.1	+	3	905	c.648C>T	c.(646-648)ctC>ctT	p.L216L	OR2W3_ENST00000360358.3_Silent_p.L216L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582000													6	168					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712594	28712594	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712594T>C	ENST00000257197.3	-	14	2436	c.2175A>G	c.(2173-2175)ccA>ccG	p.P725P	DSC1_ENST00000257198.5_Silent_p.P725P|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	725					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTATGTCTTCTGGAAAACATT	0.343000													15	37					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45455157	45455157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45455157A>C	ENST00000331493.2	+	13	1809	c.1398A>C	c.(1396-1398)aaA>aaC	p.K466N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K370N	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		CTATCAGTAAACTTCAAGAAA	0.303000													16	30					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388000													12	17					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149899985	149899985	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149899985A>G	ENST00000445323.2	+	9	906	c.785A>G	c.(784-786)aAt>aGt	p.N262S	MTMR1_ENST00000370390.3_Missense_Mutation_p.N254S|MTMR1_ENST00000451863.2_Missense_Mutation_p.N254S|MTMR1_ENST00000538506.1_Missense_Mutation_p.N141S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N160S|MTMR1_ENST00000542156.1_Missense_Mutation_p.N254S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N254S			Q13613	MTMR1_HUMAN	myotubularin related protein 1	254	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACAGTAATTATGAGTTC	0.398000													31	66					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11139034	11139034	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11139034C>T	ENST00000321143.4	+	6	731	c.529C>T	c.(529-531)Cct>Tct	p.P177S	HCCS_ENST00000380763.3_Missense_Mutation_p.P177S|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.P177S	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	177					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TAGAGAGTGTCCTTGTGGTCC	0.383000													33	147					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46627934	46627934	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:46627934C>T	ENST00000396000.2	+	7	1222	c.957C>T	c.(955-957)gcC>gcT	p.A319A	PPARA_ENST00000407236.1_Silent_p.A319A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Silent_p.A319A|PPARA_ENST00000262735.5_Silent_p.A319A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	319	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCATATTCGCCATGCTGTCTT	0.463000													33	36					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197549	65197549	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65197549A>G	ENST00000247226.7	+	4	739	c.431A>G	c.(430-432)gAc>gGc	p.D144G	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.D200G	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	200	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGCATGCGGGACAAGCAGCAG	0.647000													9	30					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146951	154146951	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154146951C>T	ENST00000389740.2	-	1	553	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCACCACGCCGAGCACCTGG	0.637000													25	48					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43503726	43503726	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43503726G>T	ENST00000300215.3	-	4	984	c.527C>A	c.(526-528)gCt>gAt	p.A176D	EPB42_ENST00000441366.2_Missense_Mutation_p.A146D|EPB42_ENST00000540029.1_Missense_Mutation_p.A68D			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	146					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CAGGAACACAGCATCCTCTGG	0.572000													13	64					2.31682e-05	2.54096e-05	1	1	0
PGM2	55276	broad.mit.edu	37	4	37851855	37851855	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37851855A>G	ENST00000381967.4	+	12	1563	c.1463A>G	c.(1462-1464)gAa>gGa	p.E488G	PGM2_ENST00000537241.1_Missense_Mutation_p.E328G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	488			E -> D (in dbSNP:rs10001580).		glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CATGATCAAGAAACCATTAAG	0.313000													5	15					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770013	53770013	+	Nonstop_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770013T>C	ENST00000311170.4	-	1	959	c.906A>G	c.(904-906)tgA>tgG	p.*302W		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	0					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGATCTTGTCATCTTTTCC	0.388000										HNSCC(26;0.072)			21	37					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62034759	62034759	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62034759G>A	ENST00000578147.1	-	13	2215	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	SCN4A_ENST00000435607.1_Silent_p.I713I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	713					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCACGGCGAAGATGAACACGA	0.557000													24	53					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455758	37455758	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37455758G>T	ENST00000234170.5	-	2	723	c.578C>A	c.(577-579)tCt>tAt	p.S193Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	193					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.S193Y(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GGGTTTCAAAGAATATTCATT	0.368000													28	60					1.88708e-17	2.5355e-17	1	1	0
PCSK9	255738	broad.mit.edu	37	1	55523792	55523792	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55523792G>T	ENST00000302118.5	+	8	1554	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D222Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	422	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTCTGCCAAAGATGTCATCAA	0.622000													22	59					1.96895e-08	2.32153e-08	1	1	0
ARHGEF18	23370	broad.mit.edu	37	19	7523545	7523545	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7523545T>C	ENST00000359920.6	+	9	2018	c.1765T>C	c.(1765-1767)Tgg>Cgg	p.W589R	CTD-2207O23.3_ENST00000593531.1_Silent_p.P546P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.W431R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	589	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CAGGAACGCCTGGATGGCCCA	0.582000													10	48					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142278191	142278191	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142278191T>G	ENST00000350721.4	-	7	1755	c.1634A>C	c.(1633-1635)aAg>aCg	p.K545T	ATR_ENST00000383101.3_Missense_Mutation_p.K481T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	545					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTACAGCTCTTAAGCACTTT	0.373000								Other conserved DNA damage response genes					13	28					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69966634	69966634	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69966634C>T	ENST00000358913.5	+	19	4255	c.3767C>T	c.(3766-3768)tCg>tTg	p.S1256L	MYPN_ENST00000354393.2_Missense_Mutation_p.S981L|MYPN_ENST00000540630.1_Missense_Mutation_p.S1256L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1256	Ig-like 5.|Interaction with ACTN.					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						GGCATCGTGTCGTGCACTGCC	0.448000													12	66					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350502	30350502	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:30350502T>C	ENST00000359358.4	-	2	491	c.53A>G	c.(52-54)aAc>aGc	p.N18S	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.N18S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	18						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGCAGCAGGTTGTCGCTGTG	0.632000													38	59					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92008023	92008023	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92008023C>T	ENST00000285419.3	-	7	970	c.656G>A	c.(655-657)cGa>cAa	p.R219Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	219						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGCTCGAAATCGCCTTGCAAA	0.373000													8	47					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054555	48054555	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48054555C>T	ENST00000311798.1	-	3	132	c.80G>A	c.(79-81)aGa>aAa	p.R27K	SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACAGACTTGTCTCCAGGGATG	0.557000													15	74					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197002227	197002227	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197002227G>A	ENST00000263955.4	-	8	1349	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	STK17B_ENST00000409228.1_Missense_Mutation_p.R355C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	355					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCATCGAAACGAAATCTTTTG	0.373000													17	44					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6416504	6416504	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6416504G>A	ENST00000398148.3	-	14	1577	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	495	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	p.I495I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AACCCACCTCGATCTTTTCCT	0.587000													8	17					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368397	158368397	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158368397G>T	ENST00000334438.1	-	1	859	c.860C>A	c.(859-861)cCt>cAt	p.P287H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTAGACAAGAGGATTAAGTAA	0.433000													12	23					1.52009e-12	1.92208e-12	1	1	0
A1CF	29974	broad.mit.edu	37	10	52601750	52601750	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52601750G>A	ENST00000395489.2	-	7	612	c.216C>T	c.(214-216)atC>atT	p.I72I	A1CF_ENST00000373997.3_Silent_p.I79I|A1CF_ENST00000373993.1_Silent_p.I79I|A1CF_ENST00000373995.3_Silent_p.I87I|A1CF_ENST00000395495.1_Silent_p.I79I|A1CF_ENST00000282641.2_Silent_p.I79I|A1CF_ENST00000374001.1_Silent_p.I79I	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	79	RRM 1.				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						AAATTTTACCGATCTGCAAGT	0.318000													8	18					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109556458	109556458	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109556458C>A	ENST00000400794.3	-	4	465	c.332G>T	c.(331-333)aGa>aTa	p.R111I	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000369962.3_Intron|WDR47_ENST00000369965.4_Intron|WDR47_ENST00000361054.3_Intron			O94967	WDR47_HUMAN	WD repeat domain 47	109										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAATAAAAATCTTACATGCTG	0.368000													19	33					8.34094e-07	9.42356e-07	1	1	0
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622000													37	66					2.75727e-19	3.7504e-19	1	1	0
RP11-193H5.1	0	broad.mit.edu	37	1	238090168	238090168	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:238090168G>A	ENST00000450451.1	+	0	1674					NR_027247.2																						ATTGACAATGGCTCCAGCATG	0.602000													8	11					0	0	1	0	0
TEX13B	0	broad.mit.edu	37	X	107224489	107224489	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107224489G>T	ENST00000302917.1	-	3	852	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	254										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAAGCCCAGAGAAGACAGACA	0.542000													11	226					0.000978159	0.00102903	1	1	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159818784	159818784	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159818784C>T	ENST00000497452.1	-	0	517																											CCAGCCTCTTCGAAGACAAAA	0.488000													68	124					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114264533	114264533	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:114264533T>C	ENST00000519065.1	-	12	1736	c.1360A>G	c.(1360-1362)Aca>Gca	p.T454A	HDAC2_ENST00000398283.2_Missense_Mutation_p.T548A|HDAC2_ENST00000519108.1_Missense_Mutation_p.T424A|HDAC2_ENST00000368632.2_Missense_Mutation_p.T424A			Q92769	HDAC2_HUMAN	histone deacetylase 2	454					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme 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)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ttgtcctctgtttctttctta	0.333000													3	36					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235894	63235894	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:63235894C>T	ENST00000540857.1	-	4	521	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	HRASLS5_ENST00000301790.4_Missense_Mutation_p.R140Q|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R140Q	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	140										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATAGCCAATTCGAAAAATCTC	0.423000													4	90					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52948557	52948557	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:52948557C>T	ENST00000295213.4	+	10	1734	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	SPATA18_ENST00000419395.2_Missense_Mutation_p.R422C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	454					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAACAGATACCGCCGCAGCTA	0.413000													22	63					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692679	100692679	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100692679A>C	ENST00000259456.3	-	4	1141	c.998T>G	c.(997-999)aTt>aGt	p.I333S		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	333					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTAGGCACAATAATTTCGTT	0.348000													8	132					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236734928	236734928	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236734928G>T	ENST00000366582.3	-	27	3880	c.3766C>A	c.(3766-3768)Ctt>Att	p.L1256I	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1175I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1256					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGACAACTAAGAATTAATTGT	0.373000													8	22					0.000157383	0.000169016	1	1	0
ANKRD27	84079	broad.mit.edu	37	19	33134529	33134529	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33134529C>T	ENST00000306065.4	-	6	692	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ANKRD27_ENST00000587352.1_Silent_p.A178A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	178					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGAGAGCATTCGCTGAGTCCT	0.577000													79	158					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26487334	26487334	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487334G>T	ENST00000295589.3	-	3	745	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	184					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTTGGTAAAAGGCACCAAGTT	0.433000													20	31					2.4624e-09	2.95225e-09	1	1	0
KCTD19	146212	broad.mit.edu	37	16	67338374	67338374	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67338374T>G	ENST00000304372.5	-	3	456	c.401A>C	c.(400-402)aAg>aCg	p.K134T	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	134						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCTAATACACTTCCATGTACG	0.488000													38	70					0	0	1	0	0
IGHD	0	broad.mit.edu	37	14	106306987	106306987	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106306987G>A	ENST00000390556.2	-	0	840																											GTCAGACGAGGCCAGCAGGTT	0.677000													5	8					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81431737	81431737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:81431737G>T	ENST00000430430.1	+	7	3369	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*	ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.E572*|ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.E864*|ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.E840*	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	864					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAATCAGGAGAAGTTTGTAT	0.403000													8	11					0.000442599	0.00046913	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87168615	87168615	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87168615C>T	ENST00000265724.3	-	20	2783	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	789	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACCATGTATCGGAGCCGCTT	0.522000													14	26					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27760902	27760902	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:27760902G>A	ENST00000295743.4	-	3	1310	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	EOMES_ENST00000449599.1_Silent_p.F369F|EOMES_ENST00000537516.1_Silent_p.F74F|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	369					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTAATTTCCCGAATGAAATCT	0.418000													38	75					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157659642	157659642	+	Missense_Mutation	SNP	C	C	T	rs145354138	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157659642C>T	ENST00000368184.3	-	10	2047	c.1756G>A	c.(1756-1758)Gtc>Atc	p.V586I	FCRL3_ENST00000368186.5_Missense_Mutation_p.V586I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	586						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCAGCAAGGACGAGGATGCTG	0.567000													24	36					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58824611	58824611	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58824611C>T	ENST00000589222.1	+	6	442	c.374C>T	c.(373-375)gCg>gTg	p.A125V	BCAS3_ENST00000408905.3_Missense_Mutation_p.A125V|BCAS3_ENST00000407086.3_Missense_Mutation_p.A125V|BCAS3_ENST00000390652.5_Missense_Mutation_p.A125V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A125V			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	125						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCAATTCGAGCGGCTAGAATC	0.428000													45	87					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337199	144337199	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337199G>A	ENST00000370493.3	+	2	843	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	28										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCAGGAGACACCAAACA	0.423000													24	67					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001229	150001229	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001229C>A	ENST00000543571.1	-	5	2922	c.2375G>T	c.(2374-2376)aGc>aTc	p.S792I	LATS1_ENST00000253339.5_Missense_Mutation_p.S792I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	792	Protein kinase.				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)		AATTAATAGGCTCATCATATC	0.368000													12	77					0.010729	0.0110271	1	1	0
NOL10	79954	broad.mit.edu	37	2	10729370	10729370	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10729370G>A	ENST00000345985.3	-	18	1603	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	NOL10_ENST00000542668.1_Missense_Mutation_p.S498L|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.S522L|NOL10_ENST00000381685.5_Missense_Mutation_p.S548L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	548						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TGAACTCTCCGAACTTTCTGC	0.493000													18	44					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	rs34945709		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTCGAGTTCGAAATGTCTT	0.408000													48	91					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197937	132197937	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132197937A>C	ENST00000378673.2	-	3	1575	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	GDF9_ENST00000296875.2_Missense_Mutation_p.F237V			O60383	GDF9_HUMAN	growth differentiation factor 9	237					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAAGTAAAATTTATAGAC	0.403000													28	45					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926511	67926511	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67926511A>C	ENST00000304363.4	-	11	1655	c.1302T>G	c.(1300-1302)aaT>aaG	p.N434K		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTACCCTGGAATTATTTATAT	0.373000													20	36					0	0	1	0	0
IGHV3-72	0	broad.mit.edu	37	14	107198998	107198998	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:107198998C>A	ENST00000433072.2	-	0	370																											ACAGTGAGTTCTTTGAATCAT	0.502000													71	127					4.83677e-39	6.979e-39	1	1	0
AGK	55750	broad.mit.edu	37	7	141321537	141321537	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141321537T>G	ENST00000355413.4	+	9	784	c.524T>G	c.(523-525)aTt>aGt	p.I175S	AGK_ENST00000473247.1_Missense_Mutation_p.I147S|AGK_ENST00000535825.1_Missense_Mutation_p.I172S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	175	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTTAGACATATTACTGATGCC	0.388000													3	38					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036962	57036962	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57036962A>G	ENST00000308031.5	+	5	1659	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAGAGAATTCATACTGGAGAG	0.378000													25	42					0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138556129	138556129	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138556129T>C	ENST00000277526.3	+	2	218	c.218T>C	c.(217-219)tTt>tCt	p.F73S	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	73						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AGCCTAATATTTGATTTCGAA	0.488000													44	60					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139980462	139980462	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139980462A>C	ENST00000394235.2	-	10	1923	c.1421T>G	c.(1420-1422)aTt>aGt	p.I474S	ELF2_ENST00000379549.2_Missense_Mutation_p.I397S|ELF2_ENST00000265495.4_Missense_Mutation_p.I474S|ELF2_ENST00000358635.3_Missense_Mutation_p.I426S|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.I414S|ELF2_ENST00000379550.1_Missense_Mutation_p.I486S	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	486					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGTTCCAACAATGTTAATGCT	0.473000													28	47					0	0	1	0	0
BBS7	0	broad.mit.edu	37	4	122780322	122780322	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122780322C>A	ENST00000264499.4	-	5	536	c.353G>T	c.(352-354)gGc>gTc	p.G118V	BBS7_ENST00000506636.1_Missense_Mutation_p.G118V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	118					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGGTCTGAGCCAGATATGTG	0.318000									Bardet-Biedl syndrome				39	53					1.03484e-13	1.33003e-13	1	1	0
FBXO7	25793	broad.mit.edu	37	22	32894360	32894360	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32894360C>T	ENST00000266087.7	+	9	1739	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	FBXO7_ENST00000397426.1_Missense_Mutation_p.T357M|FBXO7_ENST00000382058.3_Missense_Mutation_p.T392M	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	471					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGGGAGACGCCCAGCCAG	0.562000													34	75					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73470720	73470720	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73470720G>T	ENST00000339362.5	+	8	1690	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	NEO1_ENST00000261908.6_Missense_Mutation_p.D415Y|NEO1_ENST00000558964.1_Missense_Mutation_p.D415Y|NEO1_ENST00000560262.1_Missense_Mutation_p.D415Y			Q92859	NEO1_HUMAN	neogenin 1	415	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCTGAAAATGATGTTGGAAA	0.383000													5	18					0.014758	0.015099	1	1	0
FANCE	2178	broad.mit.edu	37	6	35425738	35425738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:35425738C>A	ENST00000229769.2	+	4	1131	c.946C>A	c.(946-948)Ctt>Att	p.L316I		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	316	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCTACAGCTTCTTCACGAATG	0.498000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				42	16					2.37825e-27	3.36934e-27	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350691	100350691	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100350691A>C	ENST00000542585.1	+	0	3111				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_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)			ATCCCCACAGAAAAACCCACC	0.572000													80	134					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14804984	14804984	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14804984T>G	ENST00000380881.4	-	20	4259	c.3444A>C	c.(3442-3444)gaA>gaC	p.E1148D	FREM1_ENST00000422223.2_Missense_Mutation_p.E1147D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1147D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1147					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTCAGGAGCTTCATCATTTG	0.358000													24	36					0	0	1	0	0
KTN1	0	broad.mit.edu	37	14	56103931	56103931	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56103931T>G	ENST00000416613.1	+	10	1637	c.1565T>G	c.(1564-1566)tTt>tGt	p.F522C	KTN1_ENST00000413890.2_Missense_Mutation_p.F522C|KTN1_ENST00000395311.1_Missense_Mutation_p.F522C|KTN1_ENST00000395314.3_Missense_Mutation_p.F522C|KTN1_ENST00000395309.3_Missense_Mutation_p.F522C|KTN1_ENST00000438792.2_Missense_Mutation_p.F522C|KTN1_ENST00000395308.1_Missense_Mutation_p.F522C			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	522					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAGTAAATTTGTGGCCAAA	0.358000			T	RET	papillary thryoid								25	28					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:94344033G>A	ENST00000282020.4	+	10	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	487					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E487Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTAACTACGAAATTTACGT	0.418000													16	33					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85738736	85738736	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:85738736T>G	ENST00000322366.6	-	13	2103	c.1696A>C	c.(1696-1698)Att>Ctt	p.I566L	WDFY3_ENST00000295888.4_Missense_Mutation_p.I566L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	566						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTCGAAAAATTCCTTGAAGG	0.378000													8	62					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417108	130417108	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130417108C>A	ENST00000370904.1	-	12	1681	c.771G>T	c.(769-771)gaG>gaT	p.E257D	IGSF1_ENST00000361420.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370903.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E257D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	266	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAAAGGACTTCTCCAAGTCTT	0.428000													26	52					1.66031e-10	2.0393e-10	1	1	0
DNM1L	10059	broad.mit.edu	37	12	32884447	32884447	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32884447T>C	ENST00000452533.2	+	11	1520		c.e11+2		DNM1L_ENST00000547312.1_Splice_Site|DNM1L_ENST00000549701.1_Splice_Site|DNM1L_ENST00000414834.2_Splice_Site|DNM1L_ENST00000553257.1_Splice_Site|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Splice_Site|DNM1L_ENST00000358214.5_Splice_Site|DNM1L_ENST00000266481.6_Splice_Site	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like						cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTACACAGGTAACGGAGAGA	0.433000													6	61					0	0	1	0	0
PDE1A	0	broad.mit.edu	37	2	183051307	183051307	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183051307C>T	ENST00000435564.1	-	12	1464	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D422N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	422	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D422N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTATGAAATCGATGAAACCT	0.353000													7	34					0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479290	55479290	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55479290C>A	ENST00000342972.1	+	1	753	c.483C>A	c.(481-483)ttC>ttA	p.F161L		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	161	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AGTATGAGTTCTTCTGGGGGC	0.502000													43	80					6.2361e-21	8.5756e-21	1	1	0
SDHA	6389	broad.mit.edu	37	5	251454	251454	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:251454A>G	ENST00000264932.6	+	13	1780	c.1663_splice	c.e13-1	p.G555_splice	SDHA_ENST00000510361.1_Splice_Site_p.G507_splice|SDHA_ENST00000504309.1_Intron	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	555			G -> E (in MT-C2D and CMD1GG).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTCCCCAGGAATGGTCTGGA	0.607000									Familial Paragangliomas				12	27					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41834816	41834816	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41834816C>A	ENST00000379480.4	-	2	328	c.228G>T	c.(226-228)caG>caT	p.Q76H	MTRF1_ENST00000430347.2_Missense_Mutation_p.Q89H|MTRF1_ENST00000379477.1_Missense_Mutation_p.Q76H|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	76					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CCATATATTTCTGTAGTGCTT	0.423000													19	93					1.01871e-10	1.25646e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9046194	9046194	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9046194C>A	ENST00000397910.4	-	5	35640	c.35437G>T	c.(35437-35439)Gct>Tct	p.A11813S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11815	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A7446T(1)|p.A11813T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGGAGAGCTGTGCTAGTC	0.463000													4	42					0.00024832	0.000265255	1	1	0
ZNF25	219749	broad.mit.edu	37	10	38242653	38242653	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38242653C>A	ENST00000302609.7	-	5	484	c.272G>T	c.(271-273)aGa>aTa	p.R91I	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTCCTGGTATCTTGCTTCTAG	0.328000													4	31					0.150653	0.151842	1	1	0
ZMAT3	64393	broad.mit.edu	37	3	178742906	178742906	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178742906C>T	ENST00000311417.2	-	6	1510	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ZMAT3_ENST00000432729.1_Missense_Mutation_p.E256K	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	257					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TCCATCTCTTCGCCAGCTCCA	0.478000													30	65					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298485	12298485	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12298485C>A	ENST00000343979.4	+	4	1432	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S365Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	431					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GCTTTCGTTTCTTCAACATCA	0.388000													4	32					0.150653	0.151842	1	1	0
MGAM	8972	broad.mit.edu	37	7	141705362	141705362	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141705362C>A	ENST00000475668.2	+	2	86	c.32C>A	c.(31-33)aCt>aAt	p.T11N	MGAM_ENST00000549489.2_Missense_Mutation_p.T11N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	11					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)	AAATTTACTACTTTGGAGATT	0.299000													5	4					0.0215528	0.0219788	1	1	0
DSC3	1825	broad.mit.edu	37	18	28574328	28574328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28574328C>T	ENST00000360428.4	-	16	2584	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	835					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGATTACATCGATGCAATTT	0.318000													13	23					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210187141	210187141	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210187141T>G	ENST00000537238.1	+	4	502	c.112_splice	c.e4+1	p.I37_splice	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Splice_Site_p.I120_splice|SYT14_ENST00000367019.1_Splice_Site_p.I75_splice|SYT14_ENST00000367015.1_Splice_Site_p.I37_splice|SYT14_ENST00000534859.1_Splice_Site_p.I75_splice|SYT14_ENST00000399639.2_Splice_Site_p.I75_splice|SYT14_ENST00000472886.1_Splice_Site_p.I75_splice	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	75						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGATAAAATTTGTAAGTATC	0.294000													6	57					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996562	140996562	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996562G>A	ENST00000285879.4	+	4	3658	c.3372G>A	c.(3370-3372)tcG>tcA	p.S1124S	MAGEC1_ENST00000406005.2_Silent_p.S191S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1124							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)					CAGATGATTCGACTGCCACAG	0.483000										HNSCC(15;0.026)			32	72					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967346	87967346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87967346C>T	ENST00000307808.6	+	2	466	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Nonsense_Mutation_p.R23*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	16						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAACCTGCTTCGAATTAGAGA	0.403000													33	67					0	0	1	0	0
NPY4R	0	broad.mit.edu	37	10	47087465	47087465	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087465G>A	ENST00000374312.1	+	3	1101	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	NPY4R_ENST00000395716.1_Missense_Mutation_p.G228S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCTCCCACTGGGCTTCATCCT	0.607000													6	155					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834982	61834982	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61834982G>A	ENST00000280772.1	-	37	5848	c.5657C>T	c.(5656-5658)gCc>gTc	p.A1886V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1886	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAACTTAAGGGCAGAGGGTGC	0.433000													26	58					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928177	230928177	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230928177C>T	ENST00000354537.1	+	15	1732	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Silent_p.S513S|CAPN9_ENST00000271971.2_Silent_p.S576S|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	576	Domain IV.|EF-hand 1.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CACAGACCAGCGGCAATGGGA	0.562000													35	96					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406152	39406152	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39406152C>T	ENST00000334109.2	+	1	214	c.180C>T	c.(178-180)acC>acT	p.T60T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	60	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCAAAACACCTGCTGCCAGC	0.642000													52	106					0	0	1	0	0
LSM11	134353	broad.mit.edu	37	5	157178487	157178487	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157178487C>T	ENST00000286307.5	+	2	594	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	180	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	p.R180W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGGACTTCGGGGCGTCTG	0.498000													24	57					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406363	43406363	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43406363C>T	ENST00000244533.3	+	6	2232	c.1871_splice	c.e6-1	p.L625_splice	ABCC10_ENST00000372530.4_Splice_Site_p.L653_splice	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	653	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTCTGCAGGCTGCGTGGGCA	0.622000													14	39					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352752	113352752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113352752C>A	ENST00000458497.1	+	11	2328	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	ALPK1_ENST00000177648.9_Missense_Mutation_p.F683L|ALPK1_ENST00000504176.2_Missense_Mutation_p.F605L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	683							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGGCATTTTCTTGGCCCCTG	0.498000													27	37					6.32553e-13	8.04352e-13	1	1	0
NSD1	64324	broad.mit.edu	37	5	176675273	176675273	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176675273A>C	ENST00000439151.2	+	11	4634	c.4589A>C	c.(4588-4590)aAa>aCa	p.K1530T	NSD1_ENST00000354179.4_Missense_Mutation_p.K1261T|NSD1_ENST00000361032.4_Missense_Mutation_p.K1427T|NSD1_ENST00000347982.4_Missense_Mutation_p.K1261T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1530					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCTCTAAAAAAATGCAGGGT	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	27					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124831140	124831140	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124831140C>T	ENST00000356219.3	-	32	4505	c.4350G>A	c.(4348-4350)ccG>ccA	p.P1450P	NCOR2_ENST00000429285.2_Silent_p.P1433P|NCOR2_ENST00000397355.1_Silent_p.P1434P|NCOR2_ENST00000404121.2_Silent_p.P1004P|NCOR2_ENST00000404621.1_Silent_p.P1433P|NCOR2_ENST00000405201.1_Silent_p.P1443P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1451					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGAGCGGCCGCGGGGCCAGGG	0.726000													6	9					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359822	16359822	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:16359822A>C	ENST00000354981.2	-	19	2982	c.2825T>G	c.(2824-2826)cTt>cGt	p.L942R	KIF16B_ENST00000378003.2_Missense_Mutation_p.L168R|KIF16B_ENST00000355755.3_Missense_Mutation_p.L942R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L942R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	942	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACTTGATAAAGAGTGTTGTC	0.438000													39	81					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27203258	27203258	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27203258C>A	ENST00000343483.6	-	2	855	c.783G>T	c.(781-783)atG>atT	p.M261I	RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.M101I|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	261							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGATTTTCTTCATTTTCATCC	0.483000			T	"""NUP98, MSI2"""	AML*								50	94					1.21353e-23	1.69828e-23	1	1	0
ODF1	4956	broad.mit.edu	37	8	103572979	103572979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103572979C>T	ENST00000285402.3	+	2	776	c.620C>T	c.(619-621)tCt>tTt	p.S207F	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	207					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CCTTGCACTTCTCCTtgcagc	0.587000													25	33					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132860038	132860038	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132860038C>A	ENST00000434551.1	+	0	610					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ACTTTGTTTTCTTCTATTCTT	0.438000													38	49					2.1956e-27	3.11292e-27	1	1	0
TCF7L2	6934	broad.mit.edu	37	10	114912121	114912121	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114912121G>A	ENST00000355995.4	+	11	1698	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000355717.4_Silent_p.A421A|TCF7L2_ENST00000369386.1_Silent_p.A40A|TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000545257.1_Silent_p.A397A|TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000466338.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	397					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.A397A(1)|p.A374A(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAGAGCAAGCGAAATACTACG	0.502000			T	VTI1A	colorectal								101	237					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545041	196545041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196545041G>A	ENST00000409086.3	+	2	550	c.275G>A	c.(274-276)gGa>gAa	p.G92E	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G92E|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	92					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTGGGCCTTGGAGAGAGAAAA	0.338000													37	43					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202263032	202263032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202263032G>A	ENST00000332624.3	-	6	954	c.526C>T	c.(526-528)Cga>Tga	p.R176*	TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	176						early endosome|plasma membrane	GABA receptor binding	p.R176*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGACGATTCGAAGTAACTCA	0.383000													20	39					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165860500	165860500	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:165860500A>C	ENST00000367879.4	+	3	600	c.297A>C	c.(295-297)aaA>aaC	p.K99N	UCK2_ENST00000372212.4_Missense_Mutation_p.K99N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	99					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAACACTCAAAGAAATCACTG	0.403000													14	40					0	0	1	0	0
SLC35A3	23443	broad.mit.edu	37	1	100480922	100480922	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100480922G>T	ENST00000370155.3	+	6	1091	c.699G>T	c.(697-699)aaG>aaT	p.K233N	SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K233N|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.K275N	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	233					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGGTATCAAAGAATGGATTTT	0.299000													12	25					7.03913e-09	8.36985e-09	1	1	0
IL1A	3552	broad.mit.edu	37	2	113537171	113537171	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113537171T>G	ENST00000263339.3	-	5	547	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	131					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GAATTCGTATTTGATGATCCT	0.403000													14	24					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94229989	94229989	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94229989C>A	ENST00000544253.1	+	2	248	c.130C>A	c.(130-132)Ctt>Att	p.L44I	ANKRD49_ENST00000540349.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000544612.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L44I			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	44					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTCAAAGTCTTTGGGTAGG	0.373000													12	105					3.07112e-06	3.42433e-06	1	1	0
GFRA1	2674	broad.mit.edu	37	10	117849401	117849401	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:117849401C>T	ENST00000439649.3	-	8	1400	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	GFRA1_ENST00000369236.1_Missense_Mutation_p.D345N|GFRA1_ENST00000355422.6_Missense_Mutation_p.D350N|GFRA1_ENST00000544592.1_Missense_Mutation_p.D229N	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	350					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ACGGTCACATCGGAGCCATTG	0.522000													7	22					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27565787	27565787	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27565787C>A	ENST00000359541.2	-	3	904	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D159Y			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	159						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATCTAGGTCTTTTGACAAC	0.552000													33	51					1.99505e-19	2.71627e-19	1	1	0
MSL3P1	0	broad.mit.edu	37	2	234774944	234774944	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234774944G>T	ENST00000438684.1	-	0	1170					NR_024322.1																						ATTTTTCCAAGAATTTCTGGA	0.438000													23	38					3.62473e-10	4.42315e-10	1	1	0
ACSL4	2182	broad.mit.edu	37	X	108902619	108902619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108902619C>A	ENST00000340800.2	-	16	2446	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E607*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.E648*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	648					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TTCAGTATTTCAGCTTCCATA	0.383000													27	71					6.32553e-13	8.04352e-13	1	1	0
IFIT1	3434	broad.mit.edu	37	10	91162430	91162430	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91162430G>A	ENST00000546318.1	+	2	1592	c.305G>A	c.(304-306)cGc>cAc	p.R102H	IFIT1_ENST00000371804.3_Missense_Mutation_p.R133H|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	133					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCCCTTCCGCTATAGAATG	0.473000													21	51					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927916	92927916	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:92927916G>T	ENST00000373079.3	-	1	651	c.388C>A	c.(388-390)Cat>Aat	p.H130N	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	130					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAAGATCATGAATTGCTTTT	0.408000													10	21					0.000442599	0.00046913	1	1	0
GALNT12	79695	broad.mit.edu	37	9	101585576	101585576	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101585576G>T	ENST00000375011.3	+	2	410	c.410G>T	c.(409-411)aGg>aTg	p.R137M		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	137	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AATTTGCCCAGGACATCTGTT	0.453000													20	37					2.4624e-09	2.95225e-09	1	1	0
AHCYL2	23382	broad.mit.edu	37	7	129045047	129045047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129045047C>A	ENST00000325006.3	+	8	1189	c.1135C>A	c.(1135-1137)Ctt>Att	p.L379I	AHCYL2_ENST00000446544.2_Missense_Mutation_p.L378I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.L298I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.L277I|AHCYL2_ENST00000474594.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.L276I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	379					one-carbon metabolic process		adenosylhomocysteinase activity	p.L379I(1)|p.L276I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGAATCAATTCTTGATGGGTA	0.393000													25	128					3.6726e-16	4.87283e-16	1	1	0
FAM107B	83641	broad.mit.edu	37	10	14572353	14572353	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14572353C>T	ENST00000181796.2	-	3	864	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000378470.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378465.3_Missense_Mutation_p.E36K|FAM107B_ENST00000378467.4_Missense_Mutation_p.E36K|FAM107B_ENST00000478076.1_Missense_Mutation_p.E36K|FAM107B_ENST00000468747.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378458.2_Missense_Mutation_p.E36K|FAM107B_ENST00000479731.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378462.1_Missense_Mutation_p.E36K|FAM107B_ENST00000496330.1_Missense_Mutation_p.E36K	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	36										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATAAGAAGTTCTCTGTGAAGA	0.333000													22	56					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121675763	121675763	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121675763T>C	ENST00000264808.3	-	14	1808	c.1568A>G	c.(1567-1569)gAa>gGa	p.E523G	PRDM5_ENST00000428209.2_Missense_Mutation_p.E492G|PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	523					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATCCTTTTTCACAGTAAGG	0.378000													16	19					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597000													18	23					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156232899	156232899	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:156232899C>T	ENST00000302490.8	+	10	1572	c.701C>T	c.(700-702)tCt>tTt	p.S234F	KCNAB1_ENST00000389636.5_Missense_Mutation_p.S223F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S205F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S241F|KCNAB1_ENST00000490337.1_Missense_Mutation_p.S252F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	252						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGCCTATTCTGTAGCAAGA	0.423000													14	49					0	0	1	0	0
OAS2	0	broad.mit.edu	37	12	113436156	113436156	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113436156A>G	ENST00000392583.2	+	5	1156	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	OAS2_ENST00000342315.4_Missense_Mutation_p.T317A|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	317	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAAGCTCAAACCTGGTTGAC	0.433000													32	74					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33269503	33269503	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33269503C>A	ENST00000314144.5	-	7	1000	c.885_splice	c.e7+1	p.K295_splice	CCT6B_ENST00000421975.3_Splice_Site_p.K258_splice|CCT6B_ENST00000436961.3_Splice_Site_p.K250_splice	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	295					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTTCTCACCTTTTGATTAA	0.323000													10	13					1.76689e-08	2.08373e-08	1	1	0
KLKB1	3818	broad.mit.edu	37	4	187175855	187175855	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187175855A>C	ENST00000264690.6	+	12	1614	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	KLKB1_ENST00000513864.1_Missense_Mutation_p.K476T	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	476	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAAAACTATAAAGTCTCAGAA	0.363000													24	34					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20200270	20200270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:20200270C>A	ENST00000407540.3	-	5	1162	c.1100G>T	c.(1099-1101)aGa>aTa	p.R367I	MATN3_ENST00000421259.2_Missense_Mutation_p.R325I|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	367	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R367K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCCTGTTCTGTCATTCAC	0.388000													10	24					2.74318e-10	3.35981e-10	1	1	0
MFF	56947	broad.mit.edu	37	2	228207487	228207487	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228207487G>T	ENST00000353339.3	+	7	986	c.545G>T	c.(544-546)aGa>aTa	p.R182I	MFF_ENST00000354503.6_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.R156I|MFF_ENST00000409616.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R182I|MFF_ENST00000409565.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	182						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TCTGCCCCAAGAAATAAAATT	0.348000													16	56					4.7546e-09	5.67505e-09	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37737115	37737115	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37737115C>T	ENST00000539465.1	+	14	2017	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S475F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.S344F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S297F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	475	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCTGGAATCCAACAGTGCA	0.458000													32	59					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128710410	128710410	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128710410G>T	ENST00000371113.4	+	18	2161	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	OCRL_ENST00000357121.5_Missense_Mutation_p.D666Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	666					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGAGGCAAAGATTACTTCTT	0.433000													6	62					0.00116845	0.00122532	1	1	0
ARL14	80117	broad.mit.edu	37	3	160395267	160395267	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160395267A>C	ENST00000320767.2	+	1	320	c.133A>C	c.(133-135)Ata>Cta	p.I45L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	45					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CATCCCTACAATAGGTTTCAA	0.413000													24	50					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213062579	213062579	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213062579T>G	ENST00000366971.4	+	8	1703	c.1505T>G	c.(1504-1506)tTt>tGt	p.F502C	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	502					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GTCTGGATGTTTATAGGCATC	0.368000													11	49					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54640967	54640967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54640967C>T	ENST00000230640.5	+	10	1305	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R250*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	351					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCAAGTGCTTCGAGATGCAGG	0.358000													8	18					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159398918	159398918	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159398918G>A	ENST00000306675.3	+	2	1105	c.982G>A	c.(982-984)Gcc>Acc	p.A328T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	328					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	GCCCCCCGACGCCGTGTTCAA	0.602000													20	62					0	0	1	0	0
RDH14	57665	broad.mit.edu	37	2	18736896	18736896	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18736896G>T	ENST00000381249.3	-	2	679	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					AAGTTTGGAAGAAACTACCAC	0.418000													8	54					0.0381472	0.0387537	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36110954	36110954	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36110954C>A	ENST00000203166.5	+	16	1472	c.1447C>A	c.(1447-1449)Ctg>Atg	p.L483M	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	483					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CATCCACCAGCTGCACCCCGC	0.652000													62	114					4.09171e-25	5.75624e-25	1	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987291	15987291	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987291T>G	ENST00000345034.1	+	1	928	c.928T>G	c.(928-930)Tta>Gta	p.L310V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	310					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCAGGATTTACAGCCCCC	0.393000													31	30					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960797	29960797	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29960797C>A	ENST00000253381.2	+	2	229	c.196C>A	c.(196-198)Cct>Act	p.P66T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	66					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGCGAGTTCCTGCGACATC	0.438000													38	79					3.33393e-15	4.38315e-15	1	1	0
DMRTC2	63946	broad.mit.edu	37	19	42352862	42352862	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42352862G>T	ENST00000269945.3	+	5	498		c.e5-1		DMRTC2_ENST00000596827.1_Splice_Site|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGCCCCTGCAGAACTCCTGTG	0.622000													64	119					1.25706e-45	1.82083e-45	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78350097	78350097	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78350097T>C	ENST00000255189.3	-	4	478	c.450A>G	c.(448-450)caA>caG	p.Q150Q	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	150					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCGAGTCATTTGATATTTAA	0.408000													15	41					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105923953	105923953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105923953G>A	ENST00000357060.3	-	24	3260	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1049								p.R1049*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTTCTCGAATTCGAACA	0.373000													10	29					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025807	31025807	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31025807C>T	ENST00000355537.3	+	3	2371	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCGCTGCTTCGCGACAGAAG	0.577000													77	92					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163076364	163076364	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163076364A>G	ENST00000188790.4	-	7	692	c.486_splice	c.e7+1	p.L162_splice	FAP_ENST00000443424.1_Splice_Site_p.L137_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	162					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.L162*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACACTTACTAATTTACTCCC	0.328000													8	20					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339799	55339799	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55339799T>G	ENST00000314634.3	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTACTTATCCTTATCTGATAC	0.413000													11	115					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819033	50819033	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50819033C>T	ENST00000374115.3	+	1	687	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	83					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACCCTGCCGCTGCCCAC	0.721000													11	26					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085004	64085004	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64085004G>A	ENST00000295902.6	-	8	2843	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S809L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	753						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGCCAGGTCCGACACAGTCCT	0.592000													26	24					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133727724	133727724	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133727724G>T	ENST00000248211.6	+	3	366	c.144G>T	c.(142-144)aaG>aaT	p.K48N	CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.K48N|ZNF10_ENST00000426665.2_Missense_Mutation_p.K48N|ZNF268_ENST00000416488.1_Missense_Mutation_p.K48N|ZNF10_ENST00000540927.1_3'UTR|ZNF10_ENST00000402932.2_Missense_Mutation_p.K48N	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAACTATAAGAACCTGGTTT	0.453000													17	40					3.32936e-07	3.80431e-07	1	1	0
GPR155	151556	broad.mit.edu	37	2	175300922	175300922	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175300922A>C	ENST00000392552.2	-	16	2773	c.2535T>G	c.(2533-2535)atT>atG	p.I845M	GPR155_ENST00000392551.2_Missense_Mutation_p.I845M|GPR155_ENST00000295500.4_Missense_Mutation_p.I845M	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	845					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGTTTGCATTAATAGCAGGAG	0.423000													6	98					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	109994855	109994855	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109994855G>A	ENST00000545712.2	-	9	1124	c.731C>T	c.(730-732)tCg>tTg	p.S244L	MMAB_ENST00000540016.1_Missense_Mutation_p.S192L|MMAB_ENST00000266839.5_Missense_Mutation_p.S153L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	244					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACTCGGCCGATGGGTCATT	0.532000													19	24					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98244436	98244436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98244436C>A	ENST00000430669.2	-	4	1021	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E211*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E61*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E146*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000468211.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.E212*			Q13635	PTC1_HUMAN	patched 1	212					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.E212fs*40(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAACCTGTTTCTGTGATAAGC	0.363000													18	26					6.49762e-13	8.24929e-13	1	1	0
KLHL15	80311	broad.mit.edu	37	X	24024277	24024277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24024277C>A	ENST00000328046.8	-	3	789	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	178	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ACATGAGCTTCTCAAAGCTCA	0.478000													44	76					1.15183e-24	1.61878e-24	1	1	0
CACNA1B	774	broad.mit.edu	37	9	141008837	141008837	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:141008837G>T	ENST00000277549.5	+	41	5695	c.3126G>T	c.(3124-3126)gaG>gaT	p.E1042D	CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1846D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1849D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1847D			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1848					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGCTGATGAGATGACAGTGG	0.512000													5	5					4.096e-09	4.90247e-09	1	1	0
REEP5	7905	broad.mit.edu	37	5	112238187	112238187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112238187C>A	ENST00000379638.4	-	3	589	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	REEP5_ENST00000545426.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000504247.1_Intron	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	81						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GTATCATCTTCTTTGTTGGGA	0.373000													16	41					9.7654e-05	0.000105618	1	1	0
UBR5	51366	broad.mit.edu	37	8	103298680	103298680	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103298680G>A	ENST00000520539.1	-	38	5729	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	UBR5_ENST00000521922.1_Missense_Mutation_p.A1702V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1708V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1708					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGAGCTTGGGCAGCACCATT	0.522000													31	35					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576196	4576196	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4576196G>A	ENST00000301396.4	-	16	2747	c.2522C>T	c.(2521-2523)tCg>tTg	p.S841L	PELP1_ENST00000269230.7_Missense_Mutation_p.S607L|PELP1_ENST00000572293.1_Missense_Mutation_p.S747L|PELP1_ENST00000436683.2_Missense_Mutation_p.S550L|PELP1_ENST00000574876.1_Missense_Mutation_p.S697L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	697	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	p.S747L(2)|p.S841L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGCGTGCCGAGGGCACAGG	0.677000													25	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407401	179407401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179407401C>A	ENST00000589042.1	-	348	97404	c.97180G>T	c.(97180-97182)Gtt>Ttt	p.V32394F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23521F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23454F|TTN_ENST00000342992.6_Missense_Mutation_p.V29826F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23329F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30753F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30753	Protein kinase.						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)			AGAATGATAACTTTAATGGTT	0.338000													46	94					3.7052e-28	5.25987e-28	1	1	0
ZNF112	7665	broad.mit.edu	37	19	44833664	44833664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44833664T>G	ENST00000354340.4	-	4	697	c.646A>C	c.(646-648)Aaa>Caa	p.K216Q	ZNF112_ENST00000536500.1_Missense_Mutation_p.K239Q|ZNF112_ENST00000337401.4_Missense_Mutation_p.K222Q	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACTTCCAGTTTATCATTGTGA	0.368000													25	59					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3231768	3231768	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3231768T>G	ENST00000355072.5	+	60	8409	c.8265_splice	c.e60+1	p.M2755_splice	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2755					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCCTTGGGATGGTAAGTGAC	0.627000													4	63					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240086	160240086	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160240086C>T	ENST00000275275.5	+	17	1504	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	445						integral to membrane|nucleus	nucleic acid binding	p.L445I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTTCAGAATCTCTGCAAGTT	0.517000													31	52					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102736613	102736613	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102736613T>G	ENST00000532855.1	-	0	1194							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GAATGTATGCTCTTGGGATAA	0.328000													13	23					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028508	79028508	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028508C>A	ENST00000446378.2	+	2	3951	c.3920C>A	c.(3919-3921)tCc>tAc	p.S1307Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1307						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)		AAACATGATTCCAAAATAACA	0.393000													9	18					0.000673444	0.000709932	1	1	0
PPP3R2	5535	broad.mit.edu	37	9	104357195	104357195	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104357195G>A	ENST00000374806.1	-	1	88	c.18C>T	c.(16-18)aaC>aaT	p.N6N	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	3							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AACTGGCCTCGTTTCCCATTG	0.592000													36	53					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34948145	34948145	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34948145A>G	ENST00000356577.4	+	11	7642	c.7167A>G	c.(7165-7167)gaA>gaG	p.E2389E	SON_ENST00000470533.1_3'UTR|SON_ENST00000290239.6_3'UTR|DONSON_ENST00000303113.6_Intron|SON_ENST00000381692.2_Silent_p.E417E|AP000304.2_ENST00000439593.1_RNA	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2389	DRBM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCACCTGAATTTCTATTGG	0.358000													18	18					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971122	57971122	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971122G>T	ENST00000302592.6	-	1	531	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGAGCAATTGAATGAGCAGA	0.463000													20	235					2.48779e-11	3.09215e-11	1	1	0
AMICA1	120425	broad.mit.edu	37	11	118068800	118068800	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118068800C>A	ENST00000292067.7	-	7	1329	c.888G>T	c.(886-888)gtG>gtT	p.V296V	AMICA1_ENST00000526620.1_Silent_p.V267V|AMICA1_ENST00000533261.1_Silent_p.V295V|AMICA1_ENST00000356289.5_Silent_p.V306V	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	306					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGTAGAATTCACTGAACTGC	0.443000											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	55					7.26314e-15	9.49782e-15	1	1	0
FREM1	158326	broad.mit.edu	37	9	14748461	14748461	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14748461G>A	ENST00000380881.4	-	32	6552	c.5737C>T	c.(5737-5739)Cgg>Tgg	p.R1913W	FREM1_ENST00000422223.2_Missense_Mutation_p.R1912W|FREM1_ENST00000380894.1_Missense_Mutation_p.R448W|FREM1_ENST00000380880.3_Missense_Mutation_p.R1912W			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1912					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAAAGCCCCGCAGGGTGTCT	0.498000													28	54					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77378805	77378805	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77378805G>T	ENST00000334955.7	+	3	795	c.768G>T	c.(766-768)aaG>aaT	p.K256N	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	256	Lys-rich.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAGAAAAAGAAAAAGAAAC	0.323000													11	17					6.40141e-05	6.95424e-05	1	1	0
VAC14	55697	broad.mit.edu	37	16	70817355	70817355	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70817355G>A	ENST00000261776.5	-	6	957	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	233					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R233C(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CACATTTTGCGAATCTCTTTG	0.587000													22	40					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17586709	17586709	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17586709T>G	ENST00000226299.4	+	6	928	c.654T>G	c.(652-654)atT>atG	p.I218M	LAP3_ENST00000606142.1_Missense_Mutation_p.I187M	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	218					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTGCTGAAATTATTGAGAAGA	0.473000													4	106					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186321228	186321228	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186321228A>C	ENST00000367478.3	-	19	2645	c.2349T>G	c.(2347-2349)aaT>aaG	p.N783K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	783					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTCTTCAAATTTTCTGCTC	0.308000			T	NTRK1	papillary thyroid								6	44					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55649407	55649407	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55649407C>A	ENST00000588981.1	-	10	627	c.423G>T	c.(421-423)aaG>aaT	p.K141N	TNNT1_ENST00000585321.2_Missense_Mutation_p.K71N|TNNT1_ENST00000291901.8_Missense_Mutation_p.K141N|TNNT1_ENST00000588426.1_Missense_Mutation_p.K38N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K130N|TNNT1_ENST00000536926.1_Missense_Mutation_p.K130N|TNNT1_ENST00000587465.2_Missense_Mutation_p.K71N|TNNT1_ENST00000587758.1_Missense_Mutation_p.K130N|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	141					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTGCCCGCTTCTTGGCCTCTT	0.572000													13	98					7.93312e-07	8.98086e-07	1	1	0
DST	667	broad.mit.edu	37	6	56485398	56485398	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56485398C>A	ENST00000370765.6	-	23	3541	c.3434G>T	c.(3433-3435)aGa>aTa	p.R1145I	DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1476					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)			AGCTACCATTCTTTCCAACTC	0.433000													42	88					1.59932e-28	2.27211e-28	1	1	0
SCRN3	79634	broad.mit.edu	37	2	175265748	175265748	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175265748A>G	ENST00000272732.6	+	4	454	c.372A>G	c.(370-372)gaA>gaG	p.E124E	SCRN3_ENST00000409673.3_Silent_p.E117E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	124					proteolysis		dipeptidase activity	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323000													17	16					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701878	16701878	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:16701878G>A	ENST00000513610.1	-	25	3080	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	MYO10_ENST00000427430.2_Missense_Mutation_p.R233C|MYO10_ENST00000505695.1_Missense_Mutation_p.R215C|MYO10_ENST00000274203.9_Missense_Mutation_p.R233C|MYO10_ENST00000515803.1_Missense_Mutation_p.R215C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	876					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGTTCACGGGTCAGTTCA	0.507000													15	30					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142503722	142503722	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142503722C>A	ENST00000273482.6	+	6	1426	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	TRPC1_ENST00000476941.1_Silent_p.I379I	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	379					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGGCAGAATCATTCACACAC	0.358000													4	27					0.150653	0.151842	1	1	0
RP11-166N6.3	0	broad.mit.edu	37	3	150659462	150659462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:150659462C>T	ENST00000569170.1	-	1	68	c.69G>A	c.(67-69)tgG>tgA	p.W23*	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.V38M|CLRN1_ENST00000327047.1_Missense_Mutation_p.V114M|CLRN1_ENST00000328863.4_Missense_Mutation_p.V114M|RP11-166N6.2_ENST00000469268.1_RNA																							GCTGTCCCCACCATGGTTAAC	0.428000													10	22					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97279270	97279270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97279270C>A	ENST00000599854.1	-	6	956	c.489G>T	c.(487-489)aaG>aaT	p.K163N	KANSL3_ENST00000441706.2_Missense_Mutation_p.K163N|KANSL3_ENST00000431828.1_Missense_Mutation_p.K250N|KANSL3_ENST00000440133.1_Missense_Mutation_p.K44N|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	250																	CCCAGGGCCTCTTCAGTAGGA	0.473000													49	88					6.31075e-24	8.8404e-24	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61527689	61527689	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61527689G>T	ENST00000266070.4	-	8	2435	c.2110C>A	c.(2110-2112)Ctc>Atc	p.L704I	DIDO1_ENST00000395335.2_Missense_Mutation_p.L704I|DIDO1_ENST00000395340.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395343.1_Missense_Mutation_p.L704I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	704	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAATATGGAGGGCAATTTTT	0.353000													20	34					1.56452e-12	1.97515e-12	1	1	0
TESK2	10420	broad.mit.edu	37	1	45811195	45811195	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45811195T>G	ENST00000372086.3	-	11	1433	c.1033A>C	c.(1033-1035)Agc>Cgc	p.S345R	TESK2_ENST00000538496.1_Missense_Mutation_p.S262R|TESK2_ENST00000341771.6_Missense_Mutation_p.S316R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S316R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	345					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCAGTGAGCTTAGTCGCTTC	0.488000													22	30					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984575	140984575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140984575C>T	ENST00000544766.1	+	5	664	c.137C>T	c.(136-138)tCt>tTt	p.S46F	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	440										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)					tcctcttcctctttccacttt	0.512000													27	48					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509413	105509413	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:105509413A>G	ENST00000276654.5	-	5	1475	c.1367T>C	c.(1366-1368)tTc>tCc	p.F456S	LRP12_ENST00000424843.2_Missense_Mutation_p.F437S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	456	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTACAATGGAAATTTCCTGG	0.413000													32	53					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10332194	10332194	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10332194C>T	ENST00000298530.3	+	1	583	c.5C>T	c.(4-6)tCg>tTg	p.S2L	TMEM52B_ENST00000381923.2_Silent_p.V7V|TMEM52B_ENST00000536952.1_Silent_p.V7V	NM_153022.2	NP_694567.1			transmembrane protein 52B									p.S2L(1)									GAGTTCATGTCGTGGCGGCCT	0.478000													57	151					0	0	1	0	0
PLAC1L	0	broad.mit.edu	37	11	59811081	59811081	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59811081G>A	ENST00000278855.2	+	2	389	c.204G>A	c.(202-204)gaG>gaA	p.E68E	PLAC1L_ENST00000532905.1_Silent_p.E37E	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		68						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATGTATATGAGTTTATATATC	0.368000													6	31					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080254	70080254	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70080254G>T	ENST00000446444.1	-	1	195	c.187C>A	c.(187-189)Ctt>Att	p.L63I	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	63					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGATCAAAAAGAATGGAAGCT	0.388000													28	145					4.74835e-14	6.14782e-14	1	1	0
MCM3	4172	broad.mit.edu	37	6	52138700	52138700	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:52138700C>T	ENST00000596288.1	-	10	1551	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	MCM3_ENST00000419835.2_Silent_p.K417K|MCM3_ENST00000229854.7_Silent_p.K463K	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	463					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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCATTGGAGTCTTATACTGGT	0.483000													20	41					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94224044	94224044	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94224044C>T	ENST00000323929.3	-	3	330	c.108G>A	c.(106-108)acG>acA	p.T36T	MRE11A_ENST00000393241.4_Silent_p.T36T|MRE11A_ENST00000323977.3_Silent_p.T36T|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000407439.3_Silent_p.T39T|MRE11A_ENST00000540013.1_Silent_p.T36T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	36					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGTTACAAACGTATCATTTC	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				19	51					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48914916	48914916	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48914916A>T	ENST00000294954.7	-	11	2041	c.2020T>A	c.(2020-2022)Tct>Act	p.S674T	LHCGR_ENST00000344775.3_Missense_Mutation_p.S612T|LHCGR_ENST00000405626.1_Missense_Mutation_p.S647T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	674					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTGGATTGAGAAGGCTTATTT	0.428000													20	80					0	0	1	0	0
FCGR1B	2210	broad.mit.edu	37	1	120927161	120927161	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120927161C>T	ENST00000369384.4	-	5	861	c.819G>A	c.(817-819)cgG>cgA	p.R273R	RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Silent_p.R181R	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	273					interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGGGCTCCTTCCGGTGCACCC	0.542000													16	39					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634593	113634593	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113634593G>A	ENST00000358160.4	+	10	1490	c.998G>A	c.(997-999)cGt>cAt	p.R333H	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R166H|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R62H|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R128H	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	333						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTTATCAACCGTATTTTTCAT	0.323000													10	28					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94543462	94543462	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94543462C>T	ENST00000258526.4	+	1	964	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	239	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGACGCCTTTCTCTGGAACGG	0.687000													9	11					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66361152	66361152	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66361152C>A	ENST00000273854.3	-	4	1620	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	EPHA5_ENST00000354839.4_Missense_Mutation_p.K340N|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.K340N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	340	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGAAATAATCCTTTTCACAGA	0.463000										TSP Lung(17;0.13)			45	80					8.48111e-28	1.20306e-27	1	1	0
RYR2	6262	broad.mit.edu	37	1	237670013	237670013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237670013G>A	ENST00000366574.2	+	23	2934	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	RYR2_ENST00000360064.6_Missense_Mutation_p.V871M|RYR2_ENST00000542537.1_Missense_Mutation_p.V857M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	873	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTAGATCGTGTTGCCTCC	0.368000													8	17					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622738	18622738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18622738C>A	ENST00000379989.3	+	13	1979	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S565Y|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	565					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAGACATTCTAAGACGATG	0.502000													13	154					0.00010058	0.000108553	1	1	0
CIT	11113	broad.mit.edu	37	12	120295449	120295449	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120295449C>T	ENST00000392521.2	-	4	347	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CIT_ENST00000261833.7_Missense_Mutation_p.E98K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	98	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCTGACTTCGAAGTCCTTT	0.458000													47	107					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29220402	29220402	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29220402C>A	ENST00000321990.4	+	21	4909	c.4531C>A	c.(4531-4533)Ctt>Att	p.L1511I		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1511					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATATAGTAATCTTGAGTTTAT	0.348000													27	68					3.73808e-20	5.11168e-20	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32449775	32449775	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32449775G>A	ENST00000404025.2	-	10	3330	c.2842C>T	c.(2842-2844)Cgt>Tgt	p.R948C	NLRC4_ENST00000360906.5_Missense_Mutation_p.R948C|NLRC4_ENST00000402280.1_Missense_Mutation_p.R948C|NLRC4_ENST00000342905.6_Missense_Mutation_p.R283C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	948					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCTCACACGATTTCCCGCC	0.363000													19	42					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140400121	140400121	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140400121G>A	ENST00000406427.1	-	14	1754	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S54L|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S448L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGCATCCGACTTCCTGCT	0.612000													48	85					0	0	1	0	0
ING2	3622	broad.mit.edu	37	4	184431545	184431545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184431545G>T	ENST00000302327.3	+	2	485	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	ING2_ENST00000434682.2_Nonsense_Mutation_p.E55*	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	95					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TAATAGTCAAGAATTGGGAGA	0.368000													42	90					1.48646e-12	1.88167e-12	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1617063	1617063	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1617063G>T	ENST00000381580.1	-	3	599	c.420C>A	c.(418-420)ttC>ttA	p.F140L	SIRPG_ENST00000303415.3_Missense_Mutation_p.F173L|SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	173					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.F173L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCTGGGAGAGAAGCCATGGG	0.557000													37	50					6.53348e-20	8.92126e-20	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44076774	44076774	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44076774G>T	ENST00000378832.1	+	9	1128	c.1072G>T	c.(1072-1074)Gat>Tat	p.D358Y		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	358							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGTGATCATAGATGAGATTTA	0.393000													3	14					0.115264	0.116507	1	1	0
NTSR1	4923	broad.mit.edu	37	20	61341123	61341123	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341123C>A	ENST00000370501.3	+	1	935	c.564C>A	c.(562-564)ttC>ttA	p.F188L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	188						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCAAGAAGTTCATCAGCGCCA	0.677000													33	80					1.30897e-18	1.77529e-18	1	1	0
FRMD1	79981	broad.mit.edu	37	6	168468077	168468077	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:168468077G>T	ENST00000283309.6	-	3	418	c.354C>A	c.(352-354)ttC>ttA	p.F118L	FRMD1_ENST00000440994.2_Missense_Mutation_p.F50L|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	118	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		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)		AATCTTTTGAGAAGTACTTGC	0.478000													16	47					1.5739e-10	1.93697e-10	1	1	0
PPP1CB	5500	broad.mit.edu	37	2	29001835	29001835	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29001835G>T	ENST00000395366.2	+	3	617	c.345G>T	c.(343-345)gaG>gaT	p.E115D	PPP1CB_ENST00000296122.6_Missense_Mutation_p.E115D|PPP1CB_ENST00000358506.2_Missense_Mutation_p.E115D	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	115					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AATATCCAGAGAACTTCTTTC	0.343000													14	30					4.3838e-07	4.998e-07	1	1	0
SPATA31C1	0	broad.mit.edu	37	9	90535331	90535331	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:90535331G>A	ENST00000602681.1	+	0	1235																											CCGGATCCTCGAACCAAGCAT	0.592000													96	169					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72289284	72289284	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72289284T>G	ENST00000334456.5	-	30	2853	c.2608A>C	c.(2608-2610)Atc>Ctc	p.I870L	PDE2A_ENST00000418754.2_Missense_Mutation_p.I755L|PDE2A_ENST00000444035.2_Missense_Mutation_p.I861L|PDE2A_ENST00000544570.1_Missense_Mutation_p.I863L|PDE2A_ENST00000376450.3_Missense_Mutation_p.I614L|PDE2A_ENST00000540345.1_Missense_Mutation_p.I861L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	870	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CACTTGTAGATGGGCATTGCA	0.557000													19	50					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61193682	61193682	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:61193682C>A	ENST00000317995.4	-	1	289	c.25G>T	c.(25-27)Gat>Tat	p.D9Y		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	9					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GCGACGGTATCTTCGATGAAG	0.677000													6	10					0.217242	0.218251	1	1	0
LRRN4	164312	broad.mit.edu	37	20	6022404	6022404	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6022404G>A	ENST00000378858.4	-	5	1711	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	496						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGGCTGAGGCGAGCTTATGCT	0.637000													61	93					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68530925	68530925	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68530925A>G	ENST00000322244.4	-	10	938	c.879T>C	c.(877-879)acT>acC	p.T293T	UBA6_ENST00000420827.2_Silent_p.T293T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	293					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CTGTTTTAGGAGTCTTAACTT	0.323000													4	54					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6054938	6054938	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:6054938G>A	ENST00000223029.3	+	2	416	c.297G>A	c.(295-297)acG>acA	p.T99T	AIMP2_ENST00000400479.2_Silent_p.T21T|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	99	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAGCCCACGACTTTAACCA	0.463000													21	48					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327920	52327920	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52327920C>T	ENST00000339223.4	+	2	1098	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	FPR3_ENST00000595991.1_Missense_Mutation_p.R307C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTTATGGGTCGTAACTTCCA	0.473000													33	61					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175861	112175861	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175861A>G	ENST00000457016.1	+	16	4950	c.4570A>G	c.(4570-4572)Ata>Gta	p.I1524V	APC_ENST00000508376.2_Missense_Mutation_p.I1524V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I1524V			P25054	APC_HUMAN	adenomatous polyposis coli	1524	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)		GGAATTAAGAATAATGCCTCC	0.398000		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)			21	36					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94792860	94792860	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:94792860A>G	ENST00000453321.3	+	8	812	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.M171V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	252			M -> T (in MKS3 and COACHS; also in a patient with overlaping clinical features with JBTS6).		cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCTTGGAAATATGTGTGTGAT	0.368000													41	81					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32754280	32754280	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32754280C>A	ENST00000427716.2	+	6	1183	c.759C>A	c.(757-759)atC>atA	p.I253I	FGD4_ENST00000266482.3_Silent_p.I5I|FGD4_ENST00000381025.3_Silent_p.I5I|FGD4_ENST00000525053.1_Silent_p.I365I|FGD4_ENST00000531134.1_Silent_p.I338I|FGD4_ENST00000534526.2_Silent_p.I390I|FGD4_ENST00000546442.1_Silent_p.I160I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	253	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAATAAAATCTTTTCTAATA	0.353000													20	38					6.44725e-10	7.85205e-10	1	1	0
FGF14	2259	broad.mit.edu	37	13	102379130	102379130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102379130C>A	ENST00000376131.4	-	4	549	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	FGF14_ENST00000376143.4_Nonsense_Mutation_p.E147*	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	147					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.E147*(1)|p.E152*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAACAGATTCTTTAAACTTG	0.358000													3	19					0.184627	0.185817	1	1	0
C16orf71	146562	broad.mit.edu	37	16	4794991	4794991	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4794991A>G	ENST00000299320.5	+	6	1500	c.1022A>G	c.(1021-1023)aAa>aGa	p.K341R	C16orf71_ENST00000590191.1_Missense_Mutation_p.K355R|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	341										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGACACCAAAGAGGCAGAT	0.602000													5	70					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169776949	169776949	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169776949A>G	ENST00000286031.6	+	8	1281	c.581A>G	c.(580-582)cAg>cGg	p.Q194R	C1orf112_ENST00000413811.2_Missense_Mutation_p.Q165R|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q194R|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q252R|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	194										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTAAGCACCAGTCCATAATA	0.348000													24	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654773	179654773	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179654773C>T	ENST00000589042.1	-	12	2094	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	TTN_ENST00000342175.6_Missense_Mutation_p.D578N|TTN_ENST00000359218.5_Missense_Mutation_p.D578N|TTN_ENST00000342992.6_Missense_Mutation_p.D624N|TTN_ENST00000360870.5_Missense_Mutation_p.D624N|TTN_ENST00000460472.2_Missense_Mutation_p.D578N|TTN_ENST00000591111.1_Missense_Mutation_p.D624N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	624							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)			GATACTAAATCTTGTTCTTTG	0.348000													27	39					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101637071	101637071	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101637071A>G	ENST00000342239.3	-	17	4734	c.4643T>C	c.(4642-4644)tTc>tCc	p.F1548S	DNMBP_ENST00000540316.1_Missense_Mutation_p.F460S|DNMBP_ENST00000324109.4_Missense_Mutation_p.F1524S|DNMBP_ENST00000543621.1_Missense_Mutation_p.F770S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1524	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCGTGCCTTGAAGGTGTAGAC	0.483000													36	63					0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12728459	12728459	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:12728459C>T	ENST00000396663.1	+	2	1062	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	ARL4A_ENST00000356797.3_Missense_Mutation_p.R194W|ARL4A_ENST00000404894.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396664.2_Missense_Mutation_p.R194W|ARL4A_ENST00000396662.1_Missense_Mutation_p.R194W	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	194					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AAAAATGTTGCGGCAACAGAA	0.378000													18	41					0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099024	64099024	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:64099024G>A	ENST00000539294.1	+	4	768	c.452G>A	c.(451-453)aGt>aAt	p.S151N	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_5'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	152												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTGCTTATAGTAGCAGTTAT	0.433000													10	26					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797479	57797479	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57797479G>T	ENST00000309042.7	+	4	2769	c.2455G>T	c.(2455-2457)Gat>Tat	p.D819Y		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	819					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TCTCCGAAAAGATAAAAAGGA	0.498000													77	117					1.52378e-38	2.19585e-38	1	1	0
RP11-15A1.7	0	broad.mit.edu	37	19	44503353	44503353	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44503353G>T	ENST00000586860.1	-	0	244				RP11-15A1.7_ENST00000589021.1_RNA																							ATTTATCACAGAATCCATGCT	0.393000													12	29					0.00010058	0.000108553	1	1	0
MUC6	4588	broad.mit.edu	37	11	1016454	1016454	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1016454G>T	ENST00000421673.2	-	31	6397	c.6347C>A	c.(6346-6348)tCt>tAt	p.S2116Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2116	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTTGCAGAACTCAAGTG	0.522000													27	40					4.72057e-08	5.51616e-08	1	1	0
RBM19	9904	broad.mit.edu	37	12	114364909	114364909	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114364909G>A	ENST00000545145.2	-	17	2272	c.2194C>T	c.(2194-2196)Ctg>Ttg	p.L732L	RBM19_ENST00000392561.3_Silent_p.L732L|RBM19_ENST00000261741.5_Silent_p.L732L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	732	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTAATAAACAGAGTACATCCT	0.483000													15	26					0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114680550	114680550	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114680550C>T	ENST00000454265.2	-	2	944	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CAMK2D_ENST00000394526.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000342666.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R29K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	29	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CATACATCTTCTCACCACTGA	0.328000													20	47					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188331683	188331683	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188331683T>G	ENST00000233156.3	-	8	1189	c.895A>C	c.(895-897)Att>Ctt	p.I299L	TFPI_ENST00000392365.1_Missense_Mutation_p.I299L|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	299					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTAACAAAAATTTCTTCATAT	0.249000													8	15					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785156	54785156	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54785156G>A	ENST00000218436.6	-	8	1380	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	451	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCATATATGCGCCGGGCTATT	0.577000													19	37					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35984785	35984785	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35984785C>T	ENST00000297866.5	+	9	1580	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	505								p.S505L(2)|p.S505W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAATCTTTGTCGGTAAAATCT	0.368000													27	44					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903439	112903439	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112903439T>C	ENST00000161863.4	+	23	3350	c.3137T>C	c.(3136-3138)aTa>aCa	p.I1046T		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1046							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCCCATAGAATAGCTAATATT	0.423000													19	26					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697246	153697246	+	Silent	SNP	G	G	A	rs140777906	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153697246G>A	ENST00000369682.3	+	25	4543	c.4368G>A	c.(4366-4368)acG>acA	p.T1456T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1456					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCCATCACGGGCGAGGCAC	0.617000													26	73					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069544	9069544	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9069544C>T	ENST00000457346.2	-	15	1815	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E581K|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000309263.3_Missense_Mutation_p.E552K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	552						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATAAACATTTCCTTAGGGGTG	0.498000													77	135					0	0	1	0	0
CTD-2139B15.2	0	broad.mit.edu	37	5	17354391	17354391	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:17354391G>A	ENST00000511821.1	+	0	250				FTH1P10_ENST00000401830.3_RNA																							GTTCTTCAAAGCCACATCATC	0.502000													6	73					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43076678	43076678	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43076678G>T	ENST00000428554.2	+	17	2556	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	CCDC30_ENST00000507855.1_Missense_Mutation_p.E260D|CCDC30_ENST00000342022.4_Missense_Mutation_p.E471D|CCDC30_ENST00000340612.4_Missense_Mutation_p.E471D|CCDC30_ENST00000390640.4_Missense_Mutation_p.E260D			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	471										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AATTGTCAGAGAAGCTATCTA	0.368000													15	44					7.93312e-07	8.98086e-07	1	1	0
ZFX	7543	broad.mit.edu	37	X	24228960	24228960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24228960G>T	ENST00000379177.1	+	11	2312	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	ZFX_ENST00000338565.3_Nonsense_Mutation_p.E579*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.E668*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.E400*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.E629*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.E629*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TATCCACCAAGAAAGCAAAAC	0.418000													32	69					2.85442e-18	3.86477e-18	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50366349	50366349	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50366349T>C	ENST00000284509.6	-	3	203	c.62A>G	c.(61-63)gAa>gGa	p.E21G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E21G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	21					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)		TTCATTATATTCACGGTCATT	0.368000													17	30					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37285051	37285051	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37285051A>G	ENST00000361924.2	+	1	384	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Missense_Mutation_p.K4E|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K4E|RP11-259K5.2_ENST00000604992.1_RNA	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	4					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATGTTCAAGAAACTGAAGCA	0.617000													21	45					0	0	1	0	0
RP11-472B18.1	0	broad.mit.edu	37	4	39482879	39482879	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:39482879C>T	ENST00000513652.1	+	0	886																											TTGCTAATTTCTCTGTTACTG	0.468000													19	34					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40063734	40063734	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40063734G>A	ENST00000352035.2	-	7	838	c.708C>T	c.(706-708)atC>atT	p.I236I	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I|ACLY_ENST00000590151.1_Silent_p.I236I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	236					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGGAACTCGATGTCACCCC	0.587000													35	69					0	0	1	0	0
PCDHB3	0	broad.mit.edu	37	5	140480258	140480258	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140480258C>A	ENST00000231130.2	+	1	25	c.25C>A	c.(25-27)Ctt>Att	p.L9I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		9					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)			AGAGCGATTTCTTAGACAAAG	0.522000													23	44					4.26978e-12	5.35675e-12	1	1	0
SRSF3	6428	broad.mit.edu	37	6	36566754	36566754	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36566754G>A	ENST00000373715.6	+	3	451	c.335G>A	c.(334-336)cGt>cAt	p.R112H	SRSF3_ENST00000339436.7_Missense_Mutation_p.R112H	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	112	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CCTCCACCTCGTCGCAGGTAC	0.468000													4	80					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159544	92159544	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92159544A>C	ENST00000256343.3	-	9	913	c.757T>G	c.(757-759)Ttt>Gtt	p.F253V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	253					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATAACTAAAAAATGATTCGTT	0.338000													20	53					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964880	119964880	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:119964880C>A	ENST00000543831.1	+	4	1005	c.756C>A	c.(754-756)ttC>ttA	p.F252L	HSD3B2_ENST00000369416.3_Missense_Mutation_p.F252L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	252					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAGGTCAATTCTATTACATCT	0.527000													31	51					5.60225e-13	7.13348e-13	1	1	0
MAST4	375449	broad.mit.edu	37	5	66448468	66448468	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66448468T>C	ENST00000404260.3	+	25	3616	c.3308T>C	c.(3307-3309)aTg>aCg	p.M1103T	MAST4_ENST00000405643.1_Missense_Mutation_p.M921T|MAST4_ENST00000403666.1_Missense_Mutation_p.M911T|MAST4_ENST00000261569.7_Missense_Mutation_p.M906T|MAST4_ENST00000403625.2_Missense_Mutation_p.M1100T			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1103	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTTACAGATATGTTTGCTGTT	0.542000													41	66					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37586899	37586899	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37586899G>T	ENST00000378616.3	+	3	722	c.519G>T	c.(517-519)atG>atT	p.M173I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	173					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTCTCCTCATGACCATATCCC	0.498000													9	34					3.09899e-07	3.54467e-07	1	1	0
SLC16A7	9194	broad.mit.edu	37	12	60098718	60098718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:60098718G>T	ENST00000261187.4	+	2	300	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549465.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549588.1_3'UTR	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	46						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATTCTTCAAAGAAATTCAGCA	0.423000													4	41					0.00909568	0.00935351	1	1	0
SON	6651	broad.mit.edu	37	21	34927011	34927011	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34927011G>A	ENST00000356577.4	+	3	5949	c.5474G>A	c.(5473-5475)cGa>cAa	p.R1825Q	SON_ENST00000290239.6_Missense_Mutation_p.R1825Q|SON_ENST00000381679.4_Missense_Mutation_p.R1825Q|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R1825Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1825					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAAGATCTCGAAGTAAGCGT	0.393000													28	54					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43031966	43031966	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43031966G>T	ENST00000428554.2	+	13	1818		c.e13-1		CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000340612.4_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTTTGCTTTAGCATCCATCAT	0.383000													9	10					2.52707e-12	3.18246e-12	1	1	0
YME1L1	10730	broad.mit.edu	37	10	27411889	27411889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27411889C>T	ENST00000326799.3	-	12	1435	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	YME1L1_ENST00000376016.3_Silent_p.A372A|YME1L1_ENST00000375972.3_Silent_p.A339A	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	429					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGGAGCATTCGCCTTTGCTT	0.328000													16	32					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289208	98289208	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98289208T>G	ENST00000322128.3	-	1	968	c.865A>C	c.(865-867)Aga>Cga	p.R289R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TAGCCCAATCTGGCAAGGCCG	0.468000													10	57					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742156	42742156	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742156G>A	ENST00000263805.4	-	2	2571	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106									p.P749T(1)									TTGAGGTTTGGCTCAGGAAGG	0.512000													26	89					0	0	1	0	0
BRCC3	79184	broad.mit.edu	37	X	154319106	154319106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154319106G>T	ENST00000369462.1	+	7	565	c.540G>T	c.(538-540)aaG>aaT	p.K180N	BRCC3_ENST00000340647.4_Missense_Mutation_p.K181N|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.K180N|BRCC3_ENST00000369459.2_Missense_Mutation_p.K180N|BRCC3_ENST00000330045.7_Missense_Mutation_p.K180N	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	180					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCCCAAAAGAGTTCAGAGT	0.353000													4	13					3.59834e-05	3.93264e-05	1	1	0
BARX2	8538	broad.mit.edu	37	11	129246058	129246058	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129246058C>T	ENST00000281437.4	+	1	224	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	43										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGAAACTTTCCCTCTACTCC	0.582000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	179					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133787197	133787197	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133787197T>C	ENST00000372338.4	-	5	1170	c.928A>G	c.(928-930)Acc>Gcc	p.T310A	FIBCD1_ENST00000372337.2_Missense_Mutation_p.T152A|FIBCD1_ENST00000253018.4_Missense_Mutation_p.T152A|FIBCD1_ENST00000448616.1_Missense_Mutation_p.T310A	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	310	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGCTCCCCGGTGAGCCTGCCA	0.667000													5	9					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85407247	85407247	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85407247G>T	ENST00000359152.5	-	11	5175	c.5176C>A	c.(5176-5178)Ctt>Att	p.L1726I	SYTL2_ENST00000527523.1_Missense_Mutation_p.L848I|SYTL2_ENST00000524452.1_Missense_Mutation_p.L856I|SYTL2_ENST00000316356.4_Missense_Mutation_p.L881I|SYTL2_ENST00000533892.1_Missense_Mutation_p.L282I|SYTL2_ENST00000528231.1_Missense_Mutation_p.L880I|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1218I|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1202I|SYTL2_ENST00000389960.4_Missense_Mutation_p.L856I|SYTL2_ENST00000529581.1_Missense_Mutation_p.L322I|SYTL2_ENST00000389958.3_Missense_Mutation_p.L311I|SYTL2_ENST00000525702.1_Missense_Mutation_p.L322I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	880					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCAATACGAAGACCTCCCAAA	0.403000													28	53					5.45727e-16	7.22369e-16	1	1	0
GABBR1	0	broad.mit.edu	37	6	29577119	29577119	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29577119C>A	ENST00000377034.4	-	15	2081	c.1746G>T	c.(1744-1746)aaG>aaT	p.K582N	GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	582					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGCGGAATGTCTTGATGACCA	0.527000													49	12					1.51926e-22	2.11298e-22	1	1	0
ANXA9	8416	broad.mit.edu	37	1	150959104	150959104	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150959104C>A	ENST00000368947.4	+	9	1055	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	193					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTCTGGAATCATTGACTATA	0.502000													36	59					2.40579e-17	3.22781e-17	1	1	0
HMMR	3161	broad.mit.edu	37	5	162900240	162900240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162900240G>T	ENST00000416990.2	+	8	858	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	HMMR_ENST00000432118.2_Nonsense_Mutation_p.E149*|HMMR_ENST00000358715.3_Nonsense_Mutation_p.E235*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.E236*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.E220*			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	235						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAAACTCTTGGAATACATCGA	0.264000													6	15					0.00116845	0.00122532	1	1	0
NXNL1	115861	broad.mit.edu	37	19	17571484	17571484	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17571484G>T	ENST00000301944.2	-	1	279	c.195C>A	c.(193-195)ttC>ttA	p.F65L	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	65	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCAGTACATAGAACTCATCTG	0.597000													42	74					4.14481e-20	5.66236e-20	1	1	0
ATP12A	479	broad.mit.edu	37	13	25280568	25280568	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25280568G>T	ENST00000218548.6	+	15	2487	c.2154G>T	c.(2152-2154)caG>caT	p.Q718H	ATP12A_ENST00000381946.3_Missense_Mutation_p.Q712H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	712					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.Q712H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCCCCAGCAGAAGCTGATCA	0.562000													14	36					1.49906e-05	1.64923e-05	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20418911	20418911	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20418911A>C	ENST00000222573.3	+	4	1310	c.626A>C	c.(625-627)aAt>aCt	p.N209T	ITGB8_ENST00000537992.1_Missense_Mutation_p.N74T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	209	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGATTCATAATCAATGCAGG	0.328000													13	19					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087243	49087243	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49087243A>C	ENST00000261900.3	-	9	1976	c.1754T>G	c.(1753-1755)tTt>tGt	p.F585C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	585	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGGATGATCAAACACAGCCCC	0.453000													30	49					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6980999	6980999	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6980999G>A	ENST00000381309.3	+	9	1561	c.996G>A	c.(994-996)caG>caA	p.Q332Q	KDM4C_ENST00000428870.2_Silent_p.Q19Q|KDM4C_ENST00000543771.1_Silent_p.Q332Q|KDM4C_ENST00000535193.1_Silent_p.Q354Q|KDM4C_ENST00000442236.2_Silent_p.Q151Q|KDM4C_ENST00000381306.3_Silent_p.Q332Q|KDM4C_ENST00000536108.1_Silent_p.Q151Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	332					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ACAGATATCAGCTTTGGAAAC	0.453000													19	43					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078718	78078718	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78078718C>T	ENST00000302262.3	+	2	552	c.333C>T	c.(331-333)atC>atT	p.I111I	GAA_ENST00000390015.3_Silent_p.I111I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	111	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GTTGCTACATCCCTGCAAAGC	0.647000													15	23					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7663587	7663587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7663587C>T	ENST00000299492.4	+	17	1964	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R383*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R414*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R368*|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	526					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAGAGTTTCGACGAGGTGG	0.527000													11	21					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952051	50952051	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50952051T>C	ENST00000374103.4	-	14	1935	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	OGDHL_ENST00000419399.1_Missense_Mutation_p.K560R|OGDHL_ENST00000432695.1_Missense_Mutation_p.K408R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	617					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						AGTGTGGATCTTAAAGTCCTC	0.617000													16	29					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207495831	207495831	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207495831T>G	ENST00000367064.3	+	2	463	c.205T>G	c.(205-207)Ttt>Gtt	p.F69V	CD55_ENST00000314754.8_Missense_Mutation_p.F69V|CD55_ENST00000367065.5_Missense_Mutation_p.F69V|CD55_ENST00000391920.4_Missense_Mutation_p.F69V|CD55_ENST00000391921.4_Missense_Mutation_p.F69V|CD55_ENST00000367067.4_Missense_Mutation_p.F69V|CD55_ENST00000367062.4_Missense_Mutation_p.F69V|CD55_ENST00000367063.2_Missense_Mutation_p.F69V	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	69	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGAAGAAAGCTTTGTGAAAAT	0.448000													11	49					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20944541	20944541	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944541T>C	ENST00000261383.3	-	62	12285	c.12286A>G	c.(12286-12288)Aca>Gca	p.T4096A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4096					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)		GGCATGTCTGTTGGAAGCTCA	0.498000													45	85					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70512901	70512901	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70512901A>G	ENST00000260128.4	+	9	1515	c.798A>G	c.(796-798)ccA>ccG	p.P266P	SULF1_ENST00000458141.2_Silent_p.P266P|SULF1_ENST00000419716.3_Silent_p.P266P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.P266P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACACAGGACCAATGCTGCCCA	0.393000													43	59					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695252	247695252	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247695252G>T	ENST00000366487.3	-	2	923	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACACAAGCCAGTTGCATAATG	0.547000													15	28					2.31682e-05	2.54096e-05	1	1	0
NAV3	89795	broad.mit.edu	37	12	78562559	78562559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78562559G>T	ENST00000397909.2	+	24	5067	c.4894G>T	c.(4894-4896)Gaa>Taa	p.E1632*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1632*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1455*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1632*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1632						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						AGAACTAAGAGAAACCATTGA	0.403000										HNSCC(70;0.22)			23	48					3.7963e-18	5.12524e-18	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073307	76073307	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76073307A>C	ENST00000395215.3	+	0	500																											TCATTACAGAAGAGTCCAAGG	0.537000													33	46					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69096538	69096538	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69096538G>T	ENST00000229179.4	+	8	1035	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	NUP107_ENST00000539906.1_Nonsense_Mutation_p.E206*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E84*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	235					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCTGCATTAGAAGAGGAAAG	0.274000													20	34					2.4624e-09	2.95225e-09	1	1	0
OSBPL3	26031	broad.mit.edu	37	7	24846441	24846441	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:24846441T>C	ENST00000313367.2	-	21	2849	c.2398A>G	c.(2398-2400)Aag>Gag	p.K800E	OSBPL3_ENST00000409069.1_Missense_Mutation_p.K733E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.K733E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K769E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	800					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AATAAAGACTTTGATGATGGA	0.368000													20	54					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69951871	69951871	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:69951871G>A	ENST00000355303.5	+	5	1029	c.724G>A	c.(724-726)Gac>Aac	p.D242N	ANO1_ENST00000530676.1_Missense_Mutation_p.D126N|ANO1_ENST00000398543.2_Missense_Mutation_p.D126N|ANO1_ENST00000538023.1_Missense_Mutation_p.D242N|ANO1_ENST00000316296.5_Missense_Mutation_p.D214N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	242					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TTCCTTTTTCGACAGCAAAAC	0.488000													18	28					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71245997	71245997	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71245997C>T	ENST00000418814.2	+	19	4614	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	FAM135A_ENST00000370479.3_Missense_Mutation_p.R1121C|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1138C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1334C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R914C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1121C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1334										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTAATAATTCGTTCAGTGCT	0.343000													18	30					0	0	1	0	0
MIR17HG	0	broad.mit.edu	37	13	92003483	92003483	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:92003483C>T	ENST00000384829.1	+	0	38					NR_029490.1																						TTGCATCCAGCTGTGTGATAT	0.448000													6	126					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9883747	9883747	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9883747C>T	ENST00000383820.5	-	4	328	c.327G>A	c.(325-327)acG>acA	p.T109T	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_Silent_p.T77T|RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000433535.2_Silent_p.T94T	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	109					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTGAGAACAACGTCAGCTCTC	0.522000													72	94					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552805	106552805	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106552805A>G	ENST00000369096.4	+	5	1004	c.770A>G	c.(769-771)gAc>gGc	p.D257G	PRDM1_ENST00000369089.3_Missense_Mutation_p.D123G|PRDM1_ENST00000369091.2_Missense_Mutation_p.D221G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	257					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTAAAATTGGACTCCAACCCC	0.468000			"""D, N, Mis, F, S"""		DLBCL								10	390					0	0	1	0	0
PPP1R8	5511	broad.mit.edu	37	1	28167551	28167551	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28167551C>T	ENST00000311772.5	+	4	356	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	100	FHA.|Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCACATTCGGTTGGAACC	0.478000													38	78					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127418874	127418874	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127418874T>G	ENST00000337623.3	+	8	1037	c.932T>G	c.(931-933)aTt>aGt	p.I311S	C10orf137_ENST00000356792.4_Missense_Mutation_p.I345S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAAACCAATTAATGTGCTA	0.308000													15	53					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136135231	136135231	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136135231C>T	ENST00000453660.2	-	0	206							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		ACCTTGGCAACGAGACATGCT	0.517000													11	70					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34088497	34088497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34088497C>A	ENST00000361264.4	-	9	1554	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	405						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTCCAGGTTTCATCATGATTC	0.483000													38	71					1.60099e-16	2.13174e-16	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40668394	40668394	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40668394A>C	ENST00000298910.7	+	15	1724	c.1666A>C	c.(1666-1668)Aat>Cat	p.N556H	LRRK2_ENST00000343742.2_Missense_Mutation_p.N556H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	556					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)				GTTCATTGGAAATCCTGGGAT	0.318000													15	52					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149755	167149755	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167149755T>G	ENST00000375387.4	-	9	1436	c.1096A>C	c.(1096-1098)Aac>Cac	p.N366H	SCN9A_ENST00000409672.1_Missense_Mutation_p.N365H|SCN9A_ENST00000409435.1_Missense_Mutation_p.N365H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N366H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	365						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)	TGGTAAAGGTTTTCCCAGTAA	0.408000													5	8					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875328	36875328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36875328C>T	ENST00000429976.2	-	21	5861	c.5614G>A	c.(5614-5616)Gca>Aca	p.A1872T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1322T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1322T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1872					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						AGATACTTTGCTGCAGCTTCC	0.433000													33	65					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122460031	122460031	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460031C>T	ENST00000264357.5	+	4	955	c.663C>T	c.(661-663)tgC>tgT	p.C221C	GRIA3_ENST00000542149.1_Silent_p.C221C|GRIA3_ENST00000371251.1_Silent_p.C221C|GRIA3_ENST00000541091.1_Silent_p.C205C|GRIA3_ENST00000371256.5_Silent_p.C221C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	221					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGATTGACTGCGAAGTCGAAA	0.418000													43	61					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21992001	21992001	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21992001G>A	ENST00000594012.1	-	7	1334	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	ZNF43_ENST00000595461.1_Missense_Mutation_p.R274C|ZNF43_ENST00000354959.4_Missense_Mutation_p.R280C|ZNF43_ENST00000598381.1_Missense_Mutation_p.R274C	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTGCGAATTATCTTA	0.333000													19	31					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35988963	35988963	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35988963G>A	ENST00000297866.5	+	11	1959	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	631										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGCAAAAGAAATTACATG	0.308000													5	16					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12071012	12071012	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12071012T>G	ENST00000356352.2	-	2	1350	c.877A>C	c.(877-879)Aat>Cat	p.N293H	UPF2_ENST00000397053.2_Missense_Mutation_p.N293H|UPF2_ENST00000357604.5_Missense_Mutation_p.N293H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	293	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAATAATATTTTTTAGCTGT	0.378000													22	26					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104316985	104316985	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316985C>A	ENST00000389120.3	+	15	2119	c.2029C>A	c.(2029-2031)Cta>Ata	p.L677I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	677					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GTTGGAAGATCTAAGGCAAAG	0.363000													10	24					0.00829132	0.00855608	1	1	0
TNIP3	79931	broad.mit.edu	37	4	122078361	122078361	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122078361C>A	ENST00000454328.1	-	6	478	c.251G>T	c.(250-252)aGa>aTa	p.R84I	TNIP3_ENST00000507879.1_Missense_Mutation_p.R154I|TNIP3_ENST00000057513.3_Missense_Mutation_p.R84I|TNIP3_ENST00000509841.1_Missense_Mutation_p.R161I			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	84										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCTGAGGAATCTTTCCGCGGC	0.587000													85	283					2.56221e-42	3.70845e-42	1	1	0
PSMA7	5688	broad.mit.edu	37	20	60713283	60713283	+	Missense_Mutation	SNP	C	C	T	rs12041		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60713283C>T	ENST00000370873.4	-	5	661	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	PSMA7_ENST00000370861.1_Missense_Mutation_p.E109K|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAATGGCTTCGTCAGTATAG	0.493000													25	29					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118359564	118359564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118359564C>T	ENST00000528052.1	+	9	891	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274W|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274W			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	274					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGGAACCCGGGACTTTGT	0.488000													26	71					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202510091	202510091	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510091T>A	ENST00000409474.3	-	22	1963	c.1756A>T	c.(1756-1758)Aga>Tga	p.R586*	MPP4_ENST00000428900.2_Nonsense_Mutation_p.R562*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.R579*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.R542*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R586*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R511*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.R528*	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	586	Guanylate kinase-like.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GTTTCCATTCTTTGGGCTAAA	0.378000													5	35					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029408	14029408	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14029408C>T	ENST00000311895.7	+	8	1628	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	540					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AATTTGTCATCGGATGCTGCT	0.468000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				30	56					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129453169	129453169	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129453169C>T	ENST00000355497.5	+	3	388	c.381C>T	c.(379-381)ttC>ttT	p.F127F	LMX1B_ENST00000373474.4_Silent_p.F127F|LMX1B_ENST00000561065.1_Silent_p.F104F|LMX1B_ENST00000425646.2_Silent_p.F104F|LMX1B_ENST00000526117.1_Silent_p.F127F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	104	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCACCGAGTTCGTGATGCGGG	0.637000									Nail-Patella Syndrome				16	23					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99127579	99127579	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99127579C>T	ENST00000397517.2	-	4	440	c.364G>A	c.(364-366)Gct>Act	p.A122T	STK24_ENST00000539966.1_Missense_Mutation_p.A103T|STK24_ENST00000376547.3_Missense_Mutation_p.A134T	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	134	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AATATAGTAGCGATCTGGGTT	0.333000													10	28					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74124304	74124304	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74124304C>T	ENST00000370336.4	+	14	1798	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	547	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTGATCTAGCCTCTAGAGGA	0.383000													31	45					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206773144	206773144	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:206773144A>G	ENST00000271764.2	-	9	1203	c.995T>C	c.(994-996)gTg>gCg	p.V332A	EIF2D_ENST00000367114.3_Missense_Mutation_p.V208A	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	332					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCTCCTTCACCTGTATAAT	0.562000													10	61					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21344752C>A	ENST00000215739.8	+	8	1088	c.729C>A	c.(727-729)ttC>ttA	p.F243L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	243					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)			TGTTTGTATTCTCTGGGCAAA	0.567000													34	67					1.56442e-22	2.17472e-22	1	1	0
STOX1	219736	broad.mit.edu	37	10	70641820	70641820	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70641820A>G	ENST00000298596.6	+	2	500	c.417A>G	c.(415-417)gtA>gtG	p.V139V	STOX1_ENST00000421961.2_Silent_p.V29V|STOX1_ENST00000399165.4_Silent_p.V139V|STOX1_ENST00000399169.4_Silent_p.V139V|STOX1_ENST00000399162.2_Silent_p.V139V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	139						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCAGATTGTAGTAACGCAGG	0.363000													23	44					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195300766	195300766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195300766G>T	ENST00000343267.3	-	3	561	c.200C>A	c.(199-201)tCa>tAa	p.S67*		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	67					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCCATTAGTGAGTAGTTGGC	0.512000													6	61					0.0293803	0.0299069	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120469578	120469578	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:120469578G>A	ENST00000283875.5	+	2	272	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	60	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCAACTTCGATCAGTTTTG	0.453000													23	41					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10906987C>T	ENST00000298232.7	-	23	1887	c.1520G>A	c.(1519-1521)aGa>aAa	p.R507K	TPTE_ENST00000342420.5_Missense_Mutation_p.R487K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R525K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358000													6	54					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022278	189022278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189022278C>A	ENST00000512729.1	-	3	636	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E88*|TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E138*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	88							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGAAGGGTTTCTCTCAGGTTC	0.438000													13	21					3.27435e-08	3.83577e-08	1	1	0
CC2D2B	387707	broad.mit.edu	37	10	97772424	97772424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772424A>G	ENST00000344386.3	+	4	420	c.256A>G	c.(256-258)Aag>Gag	p.K86E	ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K86E|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	86										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAGATATATCAAGGCATTAAA	0.299000													14	34					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21331227	21331227	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21331227G>A	ENST00000399167.2	+	13	1458	c.1218_splice	c.e13+1	p.K406_splice	AIFM3_ENST00000333607.6_Splice_Site_p.K406_splice|AIFM3_ENST00000399163.2_Splice_Site_p.K406_splice|AIFM3_ENST00000335375.5_Splice_Site_p.K394_splice|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Splice_Site_p.K412_splice|AIFM3_ENST00000440238.2_Splice_Site_p.K406_splice	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGAGGGAAAGGTGGGCCCTT	0.607000													24	57					0	0	1	0	0
BLOC1S5-TXNDC5	0	broad.mit.edu	37	6	7886244	7886244	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7886244G>A	ENST00000539054.1	-	8	779	c.780C>T	c.(778-780)ttC>ttT	p.F260F	TXNDC5_ENST00000379757.4_Silent_p.F332F|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.F224F|TXNDC5_ENST00000473453.1_Silent_p.F224F																							TGGTGTCATCGAAGTTATTTT	0.423000													14	19					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170081836	170081836	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170081836C>A	ENST00000263816.3	-	33	5807	c.5522G>T	c.(5521-5523)aGa>aTa	p.R1841I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1841					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)	TGACTGAGTTCTAGGATTGGT	0.388000													10	36					0.00621372	0.0064192	1	1	0
A4GNT	51146	broad.mit.edu	37	3	137843320	137843320	+	Missense_Mutation	SNP	C	C	T	rs142237741		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137843320C>T	ENST00000236709.3	-	3	1010	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	270					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.R270H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTCATAGTAGCGCCTCCACTC	0.498000													25	38					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36155765	36155765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36155765G>A	ENST00000258840.6	-	19	3073	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R848*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R861*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.R848*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	848					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACCACTTCGAAGTCGTTCT	0.368000													11	10					0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294803	103294803	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103294803C>T	ENST00000243297.5	+	3	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F	H2BFM_ENST00000355016.3_Missense_Mutation_p.S87F					H2B histone family, member M											endometrium(1)|lung(1)|ovary(1)	3						GTCATGGATTCTATGATCCAT	0.602000													6	20					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820378	50820378	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50820378G>A	ENST00000374115.3	+	1	2032	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	531					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TACTACACCCGCAGCTAGCAT	0.667000													15	133					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288981	98288981	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98288981C>A	ENST00000322128.3	-	1	1195	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	364					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TCTCCACAATCTTGTCAGACT	0.468000													60	118					1.16596e-39	1.68366e-39	1	1	0
APC	324	broad.mit.edu	37	5	112178190	112178190	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112178190C>A	ENST00000457016.1	+	16	7279	c.6899C>A	c.(6898-6900)tCt>tAt	p.S2300Y	APC_ENST00000508376.2_Missense_Mutation_p.S2300Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S2300Y			P25054	APC_HUMAN	adenomatous polyposis coli	2300	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.?(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)		AAAGCACCTTCTAGATCAGGA	0.493000		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	47					5.35267e-07	6.09026e-07	1	1	0
THADA	63892	broad.mit.edu	37	2	43798951	43798951	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43798951T>G	ENST00000403856.1	-	14	2106	c.1959A>C	c.(1957-1959)gaA>gaC	p.E653D	THADA_ENST00000405006.4_Missense_Mutation_p.E653D|THADA_ENST00000330266.7_Missense_Mutation_p.E363D|THADA_ENST00000415080.2_Missense_Mutation_p.E363D|THADA_ENST00000405975.2_Missense_Mutation_p.E653D|THADA_ENST00000404790.1_Missense_Mutation_p.E653D|THADA_ENST00000402360.2_Missense_Mutation_p.E653D			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	653							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGGAAACAATTTCTGTGCTCC	0.358000													39	60					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41025176	41025176	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41025176A>C	ENST00000324545.7	+	16	2670	c.2037A>C	c.(2035-2037)caA>caC	p.Q679H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q679H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	679					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGCAAAACAAATATGGAAAT	0.368000													5	90					0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705395	4705395	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4705395C>T	ENST00000305817.2	+	2	269	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	66	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCCGCAAGCTCGACATTGACT	0.602000													25	45					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40401859	40401859	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40401859T>C	ENST00000403092.1	-	6	1989	c.1954_splice	c.e6-1	p.G652_splice	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.G644_splice|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.G652_splice|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Intron|SLC8A1_ENST00000542024.1_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	652					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)	ACAGGTATTTTCCTTCATTAA	0.274000													7	22					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11941759	11941759	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11941759T>G	ENST00000339865.5	+	8	1585	c.822T>G	c.(820-822)taT>taG	p.Y274*	USP47_ENST00000399455.2_Nonsense_Mutation_p.Y362*|USP47_ENST00000527733.1_Nonsense_Mutation_p.Y342*|USP47_ENST00000539466.1_De_novo_Start_OutOfFrame	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	362					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAATCAGTATTTTTGTGAAC	0.313000													4	70					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088777	32088777	+	Silent	SNP	C	C	T	rs74814525	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32088777C>T	ENST00000438447.1	+	20	5611	c.5223C>T	c.(5221-5223)gaC>gaT	p.D1741D	PDZD2_ENST00000282493.3_Silent_p.D1741D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1741					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCTAGATGACGAAACCCTGA	0.473000													32	56					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21294589	21294589	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21294589G>A	ENST00000256958.2	+	2	177	c.81G>A	c.(79-81)ttG>ttA	p.L27L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	27					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GCAATGGATTGAAGGTAGAAT	0.279000													14	26					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597824	2597824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2597824G>T	ENST00000358864.1	+	16	2062	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	683						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						CGTACCCCATGAACGCGTGTT	0.582000													9	92					0.000442599	0.00046913	1	1	0
NEO1	4756	broad.mit.edu	37	15	73566199	73566199	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73566199T>C	ENST00000339362.5	+	21	3460	c.3013T>C	c.(3013-3015)Tgg>Cgg	p.W1005R	NEO1_ENST00000261908.6_Missense_Mutation_p.W1005R|NEO1_ENST00000558964.1_Missense_Mutation_p.W1005R|NEO1_ENST00000560262.1_Missense_Mutation_p.W1005R			Q92859	NEO1_HUMAN	neogenin 1	1005	Fibronectin type-III 6.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GATACATGACTGGGTTATTGA	0.403000													18	41					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38027836	38027836	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38027836G>A	ENST00000445217.1	+	4	311	c.276G>A	c.(274-276)cgG>cgA	p.R92R	ZNF793_ENST00000587143.1_Silent_p.R92R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.R92R|ZNF793_ENST00000589319.1_Silent_p.R92R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAAGACGGCAAGACATGC	0.393000													10	13					0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27869353	27869353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:27869353G>A	ENST00000081029.3	+	3	354	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	MRPS35_ENST00000538315.1_Missense_Mutation_p.V95M	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	95					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		p.V95M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAAAAGGGCGTGCCCATGGC	0.443000													16	43					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851032	43851032	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43851032T>G	ENST00000372769.3	+	2	849	c.759T>G	c.(757-759)atT>atG	p.I253M		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	253	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)				CCAAAGACATTTTTACTACCC	0.403000													38	73					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285704	238285704	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238285704A>C	ENST00000295550.4	-	7	3233	c.2781T>G	c.(2779-2781)atT>atG	p.I927M	COL6A3_ENST00000392003.2_Missense_Mutation_p.I520M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I721M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I726M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I320M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I721M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I727M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I721M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	927	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTTCACAAAAATGTACCTCT	0.537000													8	80					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356342	37356342	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37356342A>G	ENST00000217420.1	+	2	901	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	213					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CAGATCATCGAGCTGGTGATG	0.632000													5	63					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933766	22933766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22933766G>A	ENST00000313077.7	+	8	810	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E229K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	229					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCTCGAAGTGATTTC	0.532000													53	93					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99139912	99139912	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99139912A>G	ENST00000401707.2	+	3	313	c.232A>G	c.(232-234)Aaa>Gaa	p.K78E	POP1_ENST00000349693.3_Missense_Mutation_p.K78E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	78					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTCTTCCTCCAAAGGGATGTT	0.498000													28	51					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40586033	40586033	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40586033A>G	ENST00000324817.1	-	3	431	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	105					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATTAGCCCATTTCACTAAA	0.323000													10	29					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941131	144941131	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144941131G>C	ENST00000525985.1	-	2	6362	c.6291C>G	c.(6289-6291)gaC>gaG	p.D2097E				P58107	EPIPL_HUMAN	epiplakin 1	2097						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCTCGTCTCGTCATCGATGT	0.587000													12	139					0	0	1	0	0
RALB	5899	broad.mit.edu	37	2	121043521	121043521	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043521T>G	ENST00000272519.5	+	3	456	c.186T>G	c.(184-186)gtT>gtG	p.V62V	RALB_ENST00000420510.1_Silent_p.V62V|RALB_ENST00000474855.2_Silent_p.V84V|RALB_ENST00000404963.3_Silent_p.V83V|RALB_ENST00000470417.1_Intron	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	62					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GGGAAGAAGTTCAGATAGATA	0.413000													14	38					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18950823	18950823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18950823C>A	ENST00000380534.4	-	2	430	c.151G>T	c.(151-153)Gag>Tag	p.E51*	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Nonsense_Mutation_p.E51*|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	51										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TTGAAGGACTCTCTGGGCAGG	0.463000													50	78					8.94452e-30	1.27491e-29	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35308373	35308373	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35308373G>A	ENST00000278379.3	-	8	1499	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	406					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGCGGCTACCGCTTCATAAAG	0.468000													23	115					0	0	1	0	0
PCDHGB1	0	broad.mit.edu	37	5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140730012G>A	ENST00000523390.1	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAACTCGAAAACTGCGG	0.522000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	30					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185045	56185045	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56185045T>C	ENST00000312253.1	-	1	663	c.664A>G	c.(664-666)Att>Gtt	p.I222V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATAGCGGCAATAATAAAGATG	0.453000													33	51					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	431					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	p.R431W(1)		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)			GAATGCATCCGATCTAGGACA	0.478000													77	128					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259970	35259970	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35259970C>T	ENST00000342280.4	+	2	244	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	52					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATCAGATTTCGAGTGTAACA	0.597000													48	91					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785209	10785209	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10785209T>C	ENST00000361367.2	+	9	1403	c.977T>C	c.(976-978)tTt>tCt	p.F326S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	326					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GACCAAGCTTTTCAGTACTAT	0.313000													14	29					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237447	53237447	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:53237447G>A	ENST00000294353.6	+	3	1096		c.e3+1		ZYG11B_ENST00000443756.2_Splice_Site|ZYG11B_ENST00000545132.1_Splice_Site	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator								protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATTTGAAGGTTAGACTTTA	0.363000													8	71					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824392	114824392	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114824392C>T	ENST00000315366.7	-	2	1704	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	280						extracellular region	arylsulfatase activity|metal ion binding	p.E280K(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGTAGTGTTCGAAATACCTG	0.418000													29	36					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576442	101576442	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101576442A>C	ENST00000310954.6	-	11	2142	c.1856T>G	c.(1855-1857)tTt>tGt	p.F619C		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	619					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGGACCATAAATTGTATTCC	0.318000													35	70					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374588	39374588	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39374588G>A	ENST00000326306.4	+	2	904	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CCR8_ENST00000545843.1_Missense_Mutation_p.V173M|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	256					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)		CCCATTCAACGTGGTTCTTTT	0.463000													15	29					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409495	56409495	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56409495G>A	ENST00000544374.1	-	1	452	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.L141F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCAGACACGAGAACTGGGTAG	0.488000													18	42					0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256655	12256655	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12256655T>G	ENST00000355738.1	-	4	727	c.378A>C	c.(376-378)aaA>aaC	p.K126N	ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.K126N|ZNF625_ENST00000439556.2_Missense_Mutation_p.K192N			Q96I27	ZN625_HUMAN	zinc finger protein 625	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AAAAGTTACATTTGTAGGGTC	0.413000													53	78					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150942953	150942953	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150942953T>G	ENST00000261800.5	-	2	3519	c.3507A>C	c.(3505-3507)aaA>aaC	p.K1169N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1169	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGCTTCCCTTTGGAGCTGG	0.527000													5	71					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100376649	100376649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100376649C>A	ENST00000262233.6	+	12	1449	c.1310C>A	c.(1309-1311)tCa>tAa	p.S437*	EML1_ENST00000334192.4_Nonsense_Mutation_p.S456*|EML1_ENST00000327921.9_Nonsense_Mutation_p.S425*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	437						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTGGAGATTCAAGTGGCAAC	0.343000													8	32					2.74318e-10	3.35981e-10	1	1	0
AHRR	57491	broad.mit.edu	37	5	354006	354006	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:354006G>A	ENST00000316418.5	+	3	280	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	AHRR_ENST00000505113.1_Missense_Mutation_p.R79Q|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.R75Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	79	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTTACCTCCGGGTGAAGAGC	0.597000													22	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542573	179542573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179542573C>A	ENST00000589042.1	-	146	34290	c.34066G>T	c.(34066-34068)Gaa>Taa	p.E11356*	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11039*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11039	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E10112*(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)			GGAACAATTTCTTCTTCAAAT	0.408000													36	60					2.09667e-21	2.89385e-21	1	1	0
KIF20A	10112	broad.mit.edu	37	5	137521258	137521258	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137521258T>C	ENST00000394894.3	+	16	2210	c.1984T>C	c.(1984-1986)Tca>Cca	p.S662P	KIF20A_ENST00000508792.1_Missense_Mutation_p.S644P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	662					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGACAACAGTCAGTGGCCCA	0.517000													50	72					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140262166	140262166	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140262166A>C	ENST00000296543.5	+	4	668	c.345A>C	c.(343-345)caA>caC	p.Q115H	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.Q115H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	115					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACAATCTTCAAATCTTAAGGG	0.363000													18	29					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68654041	68654041	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68654041G>A	ENST00000423218.2	-	5	454	c.357_splice	c.e5-1	p.A120_splice	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Splice_Site_p.A120_splice			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	120					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGGGCTGCAGGCCTGGGGAGG	0.602000													5	18					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137754915	137754915	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137754915A>G	ENST00000314358.5	+	14	3909	c.3709A>G	c.(3709-3711)Aca>Gca	p.T1237A	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.T893A|KDM3B_ENST00000542866.1_Missense_Mutation_p.T269A	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1237					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TAAAGAAGAAACAAAAGGTGA	0.478000													5	37					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55912375	55912375	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55912375A>G	ENST00000389286.4	-	20	3335	c.3288T>C	c.(3286-3288)ggT>ggC	p.G1096G		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1096					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTTGTCTGACCTGGGGAGC	0.488000													35	60					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61189976	61189976	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61189976T>C	ENST00000316752.6	-	9	1034	c.773A>G	c.(772-774)gAa>gGa	p.E258G	PUS10_ENST00000407787.1_Missense_Mutation_p.E258G	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	258					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAAATCCTCTTCCTTTATCTT	0.313000													7	5					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105672986	105672986	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:105672986G>A	ENST00000542731.1	+	19	2609	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K	CDHR3_ENST00000478080.1_Missense_Mutation_p.R746K|CDHR3_ENST00000317716.9_Missense_Mutation_p.R834K|CDHR3_ENST00000343407.5_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	834					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GGGTCACTGAGAAGTGCCAAC	0.562000													24	46					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82909623	82909623	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82909623A>C	ENST00000393389.3	+	2	1093	c.161A>C	c.(160-162)gAa>gCa	p.E54A	ANKRD42_ENST00000533342.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000526731.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000260047.6_Missense_Mutation_p.E54A|ANKRD42_ENST00000531895.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000528722.1_5'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	46										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGCATTAATGAACTTGATGTT	0.413000													6	20					0	0	1	0	0
SSTR5	0	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1129540C>T	ENST00000293897.4	+	1	760	c.672C>T	c.(670-672)atC>atT	p.I224I	SSTR5_ENST00000397547.2_Silent_p.I224I|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	224					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ACCTGCTCATCGTGGTGAAGG	0.687000													17	25					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176132999	176132999	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132999T>G	ENST00000367669.3	-	4	1108	c.594A>C	c.(592-594)caA>caC	p.Q198H	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q198H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	198					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTCAAATCTTTGCTTCTGTT	0.284000													9	23					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163404	141163404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141163404C>T	ENST00000514251.1	+	4	2453	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S725L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S726L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	725					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTTTTCATCGGTGATCATG	0.502000													20	61					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7614359	7614359	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7614359G>A	ENST00000397145.2	-	12	2140	c.2035C>T	c.(2035-2037)Cgt>Tgt	p.R679C	ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000256861.6_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	679					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGAAGCCACGAACTGAAAAA	0.363000													6	16					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309134	24309134	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24309134G>T	ENST00000357002.4	+	4	447	c.332G>T	c.(331-333)aGa>aTa	p.R111I	ZNF254_ENST00000342944.6_Missense_Mutation_p.R26I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	111					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTGAGAAGATATGGAAAA	0.343000													7	40					5.18039e-06	5.75679e-06	1	1	0
PPFIA1	8500	broad.mit.edu	37	11	70171616	70171616	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70171616G>A	ENST00000253925.7	+	5	757	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R181Q	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	181					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTGAGAGAGCGATTACGAGTA	0.353000													30	72					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802265	67802265	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802265T>G	ENST00000544246.1	-	2	999	c.308A>C	c.(307-309)tAt>tCt	p.Y103S	PCDH9_ENST00000377861.3_Missense_Mutation_p.Y103S|PCDH9_ENST00000328454.5_Missense_Mutation_p.Y103S|PCDH9_ENST00000456367.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000377865.2_Missense_Mutation_p.Y103S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	103	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCCTCAGCATATGAGGCGCC	0.438000													25	46					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885413	77885413	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77885413G>T	ENST00000354212.4	-	10	2147	c.1894C>A	c.(1894-1896)Ctt>Att	p.L632I	MAGI2_ENST00000535697.1_Missense_Mutation_p.L469I|MAGI2_ENST00000419488.1_Missense_Mutation_p.L632I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L632I|MAGI2_ENST00000536571.1_Missense_Mutation_p.L464I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	632	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAATGTCAAGTATTTGTTTC	0.493000													11	15					0.000673444	0.000709932	1	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130413911	130413911	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:130413911A>G	ENST00000529410.1	+	19	2019	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N489D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	514					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGGCTGGAACAATTGCTATGA	0.423000													13	32					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222291	156222291	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156222291G>A	ENST00000361813.5	-	19	2811	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	889	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527000													15	28					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517572	39517572	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39517572G>T	ENST00000292853.4	-	5	765	c.646C>A	c.(646-648)Cta>Ata	p.L216I	FBXO27_ENST00000509137.2_Missense_Mutation_p.L216I|FBXO27_ENST00000600828.1_Missense_Mutation_p.L215I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	216	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AATTTATCTAGAACAGTCTGG	0.557000													52	122					9.40368e-32	1.3465e-31	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47075230	47075230	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47075230C>A	ENST00000290341.3	+	1	457	c.123C>A	c.(121-123)ttC>ttA	p.F41L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F41L|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	41	RRM 1.				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						GCTACGCCTTCGTGGACTGCC	0.587000													17	133					5.03518e-11	6.23768e-11	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48138169	48138169	+	Missense_Mutation	SNP	C	C	A	rs141043396	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48138169C>A	ENST00000311303.3	-	20	3129	c.2784G>T	c.(2782-2784)gaG>gaT	p.E928D	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	928	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCAGAAAGTTCTCTGCGTGAA	0.498000													51	100					2.01872e-29	2.87446e-29	1	1	0
BMP4	652	broad.mit.edu	37	14	54418862	54418862	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:54418862T>C	ENST00000245451.4	-	3	472	c.79A>G	c.(79-81)Ata>Gta	p.I27V	BMP4_ENST00000558984.1_Missense_Mutation_p.I27V|BMP4_ENST00000559087.1_Missense_Mutation_p.I27V|BMP4_ENST00000417573.1_Missense_Mutation_p.I27V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	27					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCTCAGGTATCAAACTAGCA	0.587000													4	72					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51413217	51413217	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51413217C>T	ENST00000266037.9	+	51	5474	c.5451C>T	c.(5449-5451)gtC>gtT	p.V1817V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1817						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.V1817V(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCAAGTGGTCGGAGCCTGCA	0.517000													28	62					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118763353	118763353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118763353G>A	ENST00000394610.1	-	9	1472	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	SEPT6_ENST00000394616.4_Missense_Mutation_p.A345V|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394617.2_Missense_Mutation_p.A433V|SEPT6_ENST00000489216.1_Missense_Mutation_p.A403V|SEPT6_ENST00000360156.7_Missense_Mutation_p.A403V|SEPT6_ENST00000343984.5_Missense_Mutation_p.A403V|SEPT6_ENST00000354416.3_Missense_Mutation_p.A403V|SEPT6_ENST00000354228.4_Missense_Mutation_p.A403V	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	403					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAGCAGCTCAGCCGCCGTCTT	0.512000			T	MLL	AML								49	90					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578389	7578389	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578389G>A	ENST00000420246.2	-	5	673	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R181C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGAGCAGCGCTCATGGTGG	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	44					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704252	52704252	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704252A>C	ENST00000287727.3	+	4	1335	c.1163A>C	c.(1162-1164)aAt>aCt	p.N388T	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.N388T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N388T|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N388T	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	388					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAATTCCTTAATATGACAGAG	0.373000													31	51					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100363120	100363120	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100363120C>T	ENST00000542585.1	+	0	4561				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_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)			TCAGTGGCCTCGAGTGCATAC	0.617000													10	13					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1255242	1255242	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1255242C>T	ENST00000348261.5	+	11	2828	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	CACNA1H_ENST00000565831.1_Silent_p.F860F|CACNA1H_ENST00000358590.4_Silent_p.F860F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	860					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACAACATCTTCGACGGCATCA	0.602000													41	47					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96106290	96106290	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96106290C>T	ENST00000395813.1	+	30	2510	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	CAST_ENST00000510756.1_Missense_Mutation_p.A753V|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.A734V|CAST_ENST00000511049.1_Missense_Mutation_p.A677V|CAST_ENST00000509903.1_Missense_Mutation_p.A657V|CAST_ENST00000508579.1_Missense_Mutation_p.A407V|CAST_ENST00000515663.1_Missense_Mutation_p.A415V|CAST_ENST00000325674.7_Missense_Mutation_p.A740V|CAST_ENST00000309190.5_Missense_Mutation_p.A670V|CAST_ENST00000359176.4_Missense_Mutation_p.A756V|CAST_ENST00000508830.1_Missense_Mutation_p.A775V|CAST_ENST00000508608.1_Missense_Mutation_p.A738V|CAST_ENST00000504465.1_Missense_Mutation_p.A620V|CAST_ENST00000511782.1_Missense_Mutation_p.A678V|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.A692V|CAST_ENST00000338252.3_Missense_Mutation_p.A679V			P20810	ICAL_HUMAN	calpastatin	692							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GGAGGTAAAGCGAAGGATTCA	0.393000													6	35					0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168513198	168513198	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:168513198C>A	ENST00000367819.2	-	1	37	c.5G>T	c.(4-6)aGa>aTa	p.R2I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	2					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					GATGAGAAGTCTCATGGCTGA	0.522000													20	48					7.41877e-09	8.8016e-09	1	1	0
MYH1	4619	broad.mit.edu	37	17	10402095	10402095	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10402095G>T	ENST00000226207.5	-	30	4123	c.4029C>A	c.(4027-4029)gaC>gaA	p.D1343E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1343						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						GCAGGTCACAGTCATGGCGGG	0.507000													31	54					1.68508e-10	2.06928e-10	1	1	0
TTK	7272	broad.mit.edu	37	6	80717701	80717701	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80717701A>C	ENST00000509894.1	+	3	1144	c.315A>C	c.(313-315)caA>caC	p.Q105H	TTK_ENST00000230510.3_Missense_Mutation_p.Q105H|TTK_ENST00000369798.2_Missense_Mutation_p.Q105H			P33981	TTK_HUMAN	TTK protein kinase	105					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATATGGCCAAAATGAGAGTT	0.333000													21	34					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138709842	138709842	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138709842C>T	ENST00000389532.4	-	14	4316	c.4252G>A	c.(4252-4254)Ggg>Agg	p.G1418R	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1429R|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1140R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1418						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTGTGCCCCCGGAATGAACG	0.637000													14	20					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171715386	171715386	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171715386C>T	ENST00000358196.3	+	16	2144	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	532			R -> Q (in dbSNP:rs769402).		glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCTCAACGACGGGAAAAGCT	0.453000													11	27					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48891263	48891263	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48891263C>A	ENST00000315869.7	-	7	1297	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	346					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGTCTTTCTTCTGCCGTTCCT	0.557000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								10	19					0.00621372	0.0064192	1	1	0
KLHL9	55958	broad.mit.edu	37	9	21334077	21334077	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21334077C>T	ENST00000359039.4	-	1	1302	c.782G>A	c.(781-783)aGa>aAa	p.R261K	KLHL9_ENST00000537938.1_Missense_Mutation_p.R193K			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	261					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)		ATTGTCTGTTCTCATGAAATC	0.413000													24	56					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514215	50514215	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50514215C>A	ENST00000419119.1	-	2	2324	c.771G>T	c.(769-771)agG>agT	p.R257S	FIGNL1_ENST00000356889.4_Missense_Mutation_p.R257S|FIGNL1_ENST00000433017.1_Missense_Mutation_p.R257S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R257S			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	257					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAAAGACTTCCTCTGTGGAT	0.388000													5	59					0.014758	0.015099	1	1	0
MAP2K3	5606	broad.mit.edu	37	17	21202199	21202199	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21202199G>A	ENST00000342679.4	+	3	375	c.126G>A	c.(124-126)cgG>cgA	p.R42R	MAP2K3_ENST00000316920.6_Silent_p.R13R|MAP2K3_ENST00000361818.5_Silent_p.R13R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	42					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GACCCCCCCGGAACCTGGACT	0.622000													6	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631267	179631267	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179631267C>A	ENST00000589042.1	-	41	9768	c.9544G>T	c.(9544-9546)Gat>Tat	p.D3182Y	TTN_ENST00000342175.6_Missense_Mutation_p.D3136Y|TTN_ENST00000359218.5_Missense_Mutation_p.D3136Y|TTN_ENST00000342992.6_Missense_Mutation_p.D3182Y|TTN_ENST00000360870.5_Missense_Mutation_p.D3182Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3136Y|TTN_ENST00000591111.1_Missense_Mutation_p.D3182Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2917							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)			TCAATGCCATCTTTATACCAG	0.393000													20	26					2.94398e-08	3.45884e-08	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21675657	21675657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21675657C>T	ENST00000328843.6	+	26	4715	c.4684C>T	c.(4684-4686)Cga>Tga	p.R1562*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1557*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1562	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGATATTCGAATCCAGCT	0.388000									Kartagener syndrome				4	12					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Missense_Mutation	SNP	C	C	A	rs144073167		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46826811C>A	ENST00000283296.7	-	17	3117	c.2829G>T	c.(2827-2829)aaG>aaT	p.K943N	GPR116_ENST00000456426.2_Missense_Mutation_p.K801N|GPR116_ENST00000362015.4_Missense_Mutation_p.K943N|GPR116_ENST00000265417.7_Missense_Mutation_p.K943N|GPR116_ENST00000545669.1_Missense_Mutation_p.K372N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473000													24	45					7.33628e-21	1.00811e-20	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950849	198950849	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198950849C>T	ENST00000428675.1	+	2	3006	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	870					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)	GAAGAAAGTTCGGGAATATAC	0.418000													16	43					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128599	197128599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197128599G>A	ENST00000367405.4	-	10	2688	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	874					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						TGTTCAGGTCGAACTGGGTGA	0.408000													38	98					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971527	57971527	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971527G>T	ENST00000302592.6	-	1	126	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CTCAGGAAAAGCACAAAGAGG	0.453000													44	76					2.2871e-25	3.22072e-25	1	1	0
MUC17	140453	broad.mit.edu	37	7	100685698	100685698	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	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)					CACCTGTGATCACTTCTACCC	0.502000													84	150					1.59627e-33	2.29092e-33	1	1	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049432	23049432	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:23049432G>A	ENST00000221132.3	-	10	1246	c.1182C>T	c.(1180-1182)atC>atT	p.I394I		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	394	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGACCACATCGATCTCATTTT	0.527000													37	71					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176665324	176665324	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176665324T>G	ENST00000439151.2	+	7	4053	c.4008T>G	c.(4006-4008)atT>atG	p.I1336M	NSD1_ENST00000354179.4_Missense_Mutation_p.I1067M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1233M|NSD1_ENST00000347982.4_Missense_Mutation_p.I1067M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1336					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTCTTTGATTTCAACCAAAG	0.502000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	85					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010626	58010626	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58010626A>C	ENST00000286494.4	+	15	2152	c.1692A>C	c.(1690-1692)aaA>aaC	p.K564N	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K603N|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	564					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAACTCCAAAAACCCCTCCCT	0.537000													56	94					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630161	47630161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47630161C>T	ENST00000371917.4	+	29	3979	c.3979C>T	c.(3979-3981)Cga>Tga	p.R1327*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1327					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTCTGGGTCCGAGGCTGGTT	0.458000													32	46					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172299	94172299	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94172299T>C	ENST00000297689.3	-	2	1112	c.718A>G	c.(718-720)Aca>Gca	p.T240A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	240					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						ATGGACGCTGTGTAAGAGCCT	0.488000													26	56					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059468	12059468	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12059468G>A	ENST00000482090.1	+	3	993	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.R210Q|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAGCATTCGAAGACACATG	0.378000													32	67					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480843	59480843	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59480843G>T	ENST00000307552.2	-	1	494	c.476C>A	c.(475-477)cCa>cAa	p.P159Q		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AATGGTGAGTGGCAGTGACAA	0.532000													5	53					1	1	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11337450	11337450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11337450G>A	ENST00000315872.6	-	27	3752	c.3304C>T	c.(3304-3306)Cga>Tga	p.R1102*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R859*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1102					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTCAATTCGAATCTGGCTC	0.368000													16	33					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793213	21793213	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21793213C>T	ENST00000206660.6	+	14	2199	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	RPGRIP1_ENST00000557771.1_Silent_p.G695G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.G92G|RPGRIP1_ENST00000400017.2_Silent_p.G733G|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	733					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGTCCATGGCTTGGCCACAC	0.512000													32	75					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17448598	17448598	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17448598G>A	ENST00000302539.4	-	16	2345	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	ABCC8_ENST00000389817.3_Silent_p.S740S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	740	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTATTACCTGCTCCAGAAGA	0.557000													15	25					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137360	202137360	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202137360G>T	ENST00000358485.4	+	4	784		c.e4-1		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTCCTCTTAGAACCTGCTGG	0.408000										HNSCC(4;0.00038)			41	73					6.2361e-21	8.5756e-21	1	1	0
TRAPPC6B	122553	broad.mit.edu	37	14	39639223	39639223	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39639223T>C	ENST00000330149.5	-	1	303	c.77A>G	c.(76-78)gAg>gGg	p.E26G	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.E26G	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	26					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ACTCACCACCTCCCCCTGCTC	0.547000													7	38					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113285165	113285165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113285165C>T	ENST00000362072.3	-	6	1086	c.742G>A	c.(742-744)Gag>Aag	p.E248K	DRD2_ENST00000542968.1_Missense_Mutation_p.E248K|DRD2_ENST00000538967.1_Missense_Mutation_p.E248K|DRD2_ENST00000355319.2_Missense_Mutation_p.E248K|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.E247K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	248	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TTCATGTCCTCGGGGTGAGTA	0.567000													58	103					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002452	58002452	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58002452A>C	ENST00000548198.1	+	4	2404	c.900A>C	c.(898-900)acA>acC	p.T300T	DTX3_ENST00000548804.1_Silent_p.T300T|DTX3_ENST00000551632.1_Silent_p.T303T|DTX3_ENST00000337737.3_Silent_p.T300T			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	300					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCATGACCACAGGGAGACCGA	0.597000													10	25					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118042105	118042105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118042105G>T	ENST00000356554.3	+	11	2341	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	536					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGAAGTAATTGAAACCTATTG	0.453000													14	29					0.0202918	0.0207569	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153663731	153663731	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153663731C>T	ENST00000369762.2	+	9	1144	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	361					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCCAGGTCACAGGGCCCA	0.612000													27	58					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103196	168103196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103196C>A	ENST00000409195.1	+	9	5383	c.5294C>A	c.(5293-5295)tCa>tAa	p.S1765*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1765*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1543*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1590					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						CACACAGAGTCAAATGAAACA	0.403000													21	37					1.2644e-06	1.4261e-06	1	1	0
PASK	23178	broad.mit.edu	37	2	242079939	242079939	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079939T>G	ENST00000403638.3	-	3	517	c.426A>C	c.(424-426)acA>acC	p.T142T	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.T142T|PASK_ENST00000405260.1_Silent_p.T142T|PASK_ENST00000358649.4_Silent_p.T142T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	142	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAAATACCTCTGTGGTCTTGG	0.498000													4	10					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91724364	91724364	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91724364A>G	ENST00000359028.2	+	40	9843	c.9618A>G	c.(9616-9618)gaA>gaG	p.E3206E	AKAP9_ENST00000358100.2_Silent_p.E3152E|AKAP9_ENST00000356239.3_Silent_p.E3202E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3206					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGACAGATGAAGTACATTTGC	0.383000			T	BRAF	papillary thyroid								18	33					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179599930	179599930	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179599930A>C	ENST00000444136.1	+	7	1251	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T	TDRD5_ENST00000367614.1_Missense_Mutation_p.K334T|TDRD5_ENST00000294848.8_Missense_Mutation_p.K334T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	334	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTATCACCAAAAAAATTAGGC	0.328000													16	34					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218475894	218475894	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:218475894T>G	ENST00000366932.3	+	2	428	c.398T>G	c.(397-399)aTa>aGa	p.I133R	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	133						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTAGAGAAAATAAAACAGGTA	0.348000													8	110					0	0	1	0	0
OR2W5	0	broad.mit.edu	37	1	247654907	247654907	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247654907T>C	ENST00000522351.1	+	0	538							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCATCATGTGTCCTCAGAC	0.572000													39	65					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101693498	101693498	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101693498G>T	ENST00000261637.4	+	13	1643	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	490					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCAAGGGAAGAAACGAACAG	0.358000													12	40					1.08611e-07	1.25818e-07	1	1	0
IMPACT	55364	broad.mit.edu	37	18	22028085	22028085	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:22028085T>G	ENST00000284202.4	+	9	838	c.697T>G	c.(697-699)Tta>Gta	p.L233V		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	233										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ACAGACCTTCTTACAGGATTG	0.353000													6	68					0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23573949	23573949	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23573949C>T	ENST00000395878.3	+	5	1015	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UBFD1_ENST00000567212.1_Missense_Mutation_p.R203C|UBFD1_ENST00000219638.4_Missense_Mutation_p.R436C|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CCTTCAGGAGCGCCTGCCAAC	0.517000													16	23					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38039669	38039669	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38039669G>T	ENST00000599616.1	+	5	300	c.300G>T	c.(298-300)aaG>aaT	p.K100N	SH3BP1_ENST00000336738.5_Missense_Mutation_p.K164N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K164N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K164N			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	164	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGGCAACCAAGAATTCAGGCA	0.587000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51					3.86212e-05	4.21111e-05	1	1	0
FAN1	22909	broad.mit.edu	37	15	31210381	31210381	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31210381C>T	ENST00000362065.4	+	6	2117	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	609					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCAGCAGCCACGCACATGCTG	0.468000								Direct reversal of damage					21	91					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120278467	120278467	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120278467G>A	ENST00000397843.2	+	3	243	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	26					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTTTGAACCGAGAGTCACCA	0.328000			T	MLL	AML								29	49					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454060	84454060	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454060C>T	ENST00000377084.2	-	1	2468	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	528						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGGGGTTTCCGTGGAGGTC	0.552000													25	37					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978588	247978588	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247978588C>T	ENST00000357627.1	-	1	443	c.444G>A	c.(442-444)ctG>ctA	p.L148L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACCCCCATACAGCCAAGACA	0.502000													43	95					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33290942	33290942	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33290942A>G	ENST00000280979.4	+	13	4093	c.3923A>G	c.(3922-3924)aAt>aGt	p.N1308S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1308					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGAAAAACAATCCAAAGGTC	0.408000													10	28					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23953371	23953371	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23953371G>A	ENST00000379211.3	+	7	1163	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	205										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AACAGCTGGCGCAAATTAAAT	0.418000													55	87					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55169170	55169170	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55169170C>A	ENST00000251091.5	+	2	892	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	SAMD4A_ENST00000554335.1_Missense_Mutation_p.S196Y|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S195Y|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S196Y	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	196					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCTCGGGATTCTGGGATTTGC	0.522000													25	53					9.57634e-11	1.18295e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179605938	179605938	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179605938G>A	ENST00000589042.1	-	48	12246	c.12022C>T	c.(12022-12024)Ctc>Ttc	p.L4008F	TTN_ENST00000342175.6_Missense_Mutation_p.L3837F|TTN_ENST00000359218.5_Missense_Mutation_p.L3770F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3645F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L3691F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3691							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)			CAGATATAGAGGCCACTGTCT	0.458000													27	62					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76907620	76907620	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76907620C>T	ENST00000373344.5	-	15	4755	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1476Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1514					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAATTTTTCTCGCTCACGCTC	0.428000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						12	150					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67488572	67488572	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67488572A>C	ENST00000522677.3	-	10	1550	c.1140T>G	c.(1138-1140)atT>atG	p.I380M	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I380M	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	380	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CAGCATCAGAAATATCAAAAC	0.378000													59	92					0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56554045	56554045	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56554045A>G	ENST00000551589.1	+	5	401	c.368A>G	c.(367-369)gAa>gGa	p.E123G	MYL6_ENST00000547408.1_Missense_Mutation_p.E123G|MYL6_ENST00000550697.1_Missense_Mutation_p.E123G|MYL6_ENST00000547649.1_Missense_Mutation_p.E123G|MYL6_ENST00000536128.1_Missense_Mutation_p.E216G|MYL6_ENST00000549566.1_Missense_Mutation_p.E168G|MYL6_ENST00000293422.5_Missense_Mutation_p.E124G|MYL6_ENST00000548580.1_Missense_Mutation_p.E75G|MYL6_ENST00000548293.1_Missense_Mutation_p.E123G|MYL6_ENST00000548400.1_Missense_Mutation_p.E87G|MYL6_ENST00000549017.1_Missense_Mutation_p.E19G|MYL6_ENST00000348108.4_Missense_Mutation_p.E124G			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	123	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ATGACAGAGGAAGAAGTAGAG	0.488000													20	40					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329831	152329831	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152329831G>T	ENST00000388718.5	-	3	503	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	144	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)			TGAGTGCCCAGAACTATATCC	0.463000													53	108					6.56871e-35	9.43686e-35	1	1	0
MGA	23269	broad.mit.edu	37	15	42040968	42040968	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42040968T>G	ENST00000219905.7	+	16	5527	c.5346T>G	c.(5344-5346)ctT>ctG	p.L1782L	MGA_ENST00000545763.1_Silent_p.L1573L|MGA_ENST00000566586.1_Silent_p.L1573L|MGA_ENST00000389936.4_Intron|MGA_ENST00000570161.1_Silent_p.L1782L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1763						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACACACAACTTCAGGGACATC	0.488000													12	46					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129150157	129150157	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129150157A>G	ENST00000540052.1	+	3	3453	c.3409A>G	c.(3409-3411)Aag>Gag	p.K1137E	BCORL1_ENST00000303743.5_Missense_Mutation_p.K1137E|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1137E|BCORL1_ENST00000218147.7_Missense_Mutation_p.K1137E	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1137					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCACAAGCCAAGGCCGTGGT	0.587000													8	34					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57290833	57290833	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57290833C>A	ENST00000391708.3	-	11	1196	c.654G>T	c.(652-654)caG>caT	p.Q218H	ZIM2_ENST00000599935.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q218H|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q218H	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GTTTAGAGAACTGGTGCCCTG	0.458000													4	73					0.00024832	0.000265255	1	1	0
TSSC2	0	broad.mit.edu	37	11	3423022	3423022	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3423022C>A	ENST00000529482.1	+	0	611																											CAGCATCTTTCTTTCAAGAGA	0.557000													13	27					2.27111e-07	2.60515e-07	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039094	11039094	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11039094C>A	ENST00000470054.1	-	0	1109									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)		TGTTCCTTTTCTCCTTGTAGC	0.408000													18	253					2.48551e-13	3.17925e-13	1	1	0
PLEKHG7	440107	broad.mit.edu	37	12	93163929	93163929	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93163929A>C	ENST00000344636.3	+	12	1282	c.1098A>C	c.(1096-1098)aaA>aaC	p.K366N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	366					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAACCAAGAAAATATCTTTAT	0.318000													24	45					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43531635	43531635	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43531635T>C	ENST00000400427.1	+	11	2483	c.2087T>C	c.(2086-2088)aTg>aCg	p.M696T	UMODL1_ENST00000408989.2_Missense_Mutation_p.M768T|UMODL1_ENST00000400424.1_Missense_Mutation_p.M568T|UMODL1_ENST00000408910.2_Missense_Mutation_p.M640T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	693						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AACTCCATCATGGAGCCACCC	0.637000													5	77					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002980	122002980	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122002980C>T	ENST00000498619.1	+	7	2647	c.2209C>T	c.(2209-2211)Ctg>Ttg	p.L737L	CASR_ENST00000490131.1_Silent_p.L727L|CASR_ENST00000296154.5_Silent_p.L727L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	727					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGTTCCTGCTGGTTTTCCT	0.567000													18	41					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28866664	28866664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:28866664T>G	ENST00000397358.3	+	6	1366	c.662T>G	c.(661-663)tTt>tGt	p.F221C	HMBOX1_ENST00000558662.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000524238.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000403668.2_Missense_Mutation_p.F221C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F221C|HMBOX1_ENST00000287701.10_Missense_Mutation_p.F221C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F221C	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	221					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AAAAGAGCATTTTACCGATGG	0.373000													20	32					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94575310	94575310	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94575310C>A	ENST00000258526.4	+	3	1541	c.1292C>A	c.(1291-1293)cCt>cAt	p.P431H	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	431	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACTCGTTCCTGATCCTGTG	0.308000													27	56					1.50538e-07	1.73672e-07	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58697164	58697164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58697164C>A	ENST00000254286.4	+	11	916	c.836C>A	c.(835-837)tCa>tAa	p.S279*		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	279						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GAAGAGCAATCAGTTGCCACT	0.289000													4	59					0.150653	0.151842	1	1	0
SLU7	10569	broad.mit.edu	37	5	159835009	159835009	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159835009G>A	ENST00000297151.4	-	9	1273	c.886C>T	c.(886-888)Cct>Tct	p.P296S		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	296					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCATAAGGATTCTCTCTC	0.308000													29	52					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104061119	104061119	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104061119A>C	ENST00000265148.3	-	38	6120	c.6031T>G	c.(6031-6033)Tta>Gta	p.L2011V	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2011				AQNLSMQSVR -> PNYLCKCE (in Ref. 1; CAA78727).	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCATAGATAAGTTTTGGGCC	0.328000													14	31					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11682852	11682852	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11682852G>A	ENST00000337414.4	-	1	969	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33C|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	33					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGGTCTGGCGCAGCTTCCTC	0.721000													5	10					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39725739	39725739	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39725739T>C	ENST00000246662.4	-	4	1048	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q95R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	328	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCATACTCCTGACGCATGTC	0.502000													5	47					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721328	66721328	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66721328G>T	ENST00000360242.5	+	8	1613	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499I	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	499								p.R499K(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAGAAAGAAAGAAATGAAAAC	0.368000													21	42					3.5997e-14	4.67138e-14	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68369357	68369357	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68369357C>A	ENST00000393799.2	+	21	2486	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	PPP6R3_ENST00000393801.3_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S694Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S711Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S660Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S508Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S660Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S705Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S734Y			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	740					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAGTAATTCTCCAGTGGAA	0.493000													54	90					1.27862e-28	1.81741e-28	1	1	0
LAS1L	81887	broad.mit.edu	37	X	64743516	64743516	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743516C>T	ENST00000374811.3	-	11	1412	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	LAS1L_ENST00000374807.5_Missense_Mutation_p.A441T|LAS1L_ENST00000374804.5_Missense_Mutation_p.A399T|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	458						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCAAGGGAGGCGGAGCAGTTG	0.577000													6	11					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31848655	31848655	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31848655C>A	ENST00000396184.3	-	17	2085	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N	PDE1C_ENST00000321453.7_Missense_Mutation_p.K627N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K627N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K687N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K627N|PDE1C_ENST00000479980.1_5'UTR	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	627					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CATCTGTTTTCTTTGAATCAT	0.303000													3	14					0.115264	0.116507	1	1	0
POLE2	5427	broad.mit.edu	37	14	50118061	50118061	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50118061G>T	ENST00000539565.2	-	15	1386	c.1168C>A	c.(1168-1170)Cgt>Agt	p.R390S	POLE2_ENST00000216367.5_Missense_Mutation_p.R416S|POLE2_ENST00000554396.1_Missense_Mutation_p.R416S|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	416					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					AAGTCTTCACGGAAGACAGTA	0.308000													6	16					0.000157383	0.000169016	1	1	0
LRP6	4040	broad.mit.edu	37	12	12300346	12300346	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12300346A>C	ENST00000261349.4	-	15	3427	c.3351T>G	c.(3349-3351)ttT>ttG	p.F1117L	LRP6_ENST00000543091.1_Missense_Mutation_p.F1117L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1117	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATCAGCCCAAAAGAGCTTGC	0.433000													5	91					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969514	87969514	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87969514C>T	ENST00000369577.3	+	8	6210	c.6167C>T	c.(6166-6168)tCt>tTt	p.S2056F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2051F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2056					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)		ACAGAAAGTTCTTTACAAGTG	0.353000													9	16					0	0	1	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861429	27861429	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27861429G>T	ENST00000303806.4	+	1	227	c.189G>T	c.(187-189)atG>atT	p.M63I		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	63					nucleosome assembly	nucleosome|nucleus	DNA binding										TGGGCATCATGAACTCCTTCG	0.562000													25	223					1.85244e-09	2.22951e-09	1	1	0
DHX9	1660	broad.mit.edu	37	1	182821465	182821465	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182821465T>G	ENST00000367549.3	+	4	460	c.350T>G	c.(349-351)cTg>cGg	p.L117R		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	117	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCTCCACATCTGGCTCTCAAA	0.468000													12	23					0	0	1	0	0
CCDC111	0	broad.mit.edu	37	4	185580506	185580506	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185580506T>C	ENST00000314970.6	+	4	626	c.193T>C	c.(193-195)Ttt>Ctt	p.F65L	CCDC111_ENST00000515774.1_5'UTR|CCDC111_ENST00000512834.1_Missense_Mutation_p.F65L|CCDC111_ENST00000503752.1_Missense_Mutation_p.F65L	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		65					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CGTTCATGTATTTGCTTTGGA	0.338000													28	32					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124748211	124748211	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124748211G>A	ENST00000397801.1	+	22	3391	c.3199G>A	c.(3199-3201)Gtg>Atg	p.V1067M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1045M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1067					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGGAGGCAAAGTGAAGCTTCT	0.582000													9	14					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53562435	53562435	+	Missense_Mutation	SNP	G	G	A	rs121918527		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53562435G>A	ENST00000342160.3	-	80	13016	c.12559C>T	c.(12559-12561)Cgt>Tgt	p.R4187C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4187C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4187	HECT.		R -> C (in MRXS-Turner).		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGAGGTCACGAACTTCACAA	0.438000													12	25					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7242375	7242375	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7242375C>T	ENST00000361972.4	-	14	1649		c.e14+1		SFMBT2_ENST00000397167.1_Splice_Site	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2						regulation of transcription, DNA-dependent	nucleus		p.?(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGACTGATTACCTGTGGTGTC	0.468000													24	47					0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537671	75537671	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75537671G>A	ENST00000524913.1	+	2	884	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.R132Q	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	132																	ACAAAGAAACGAGTTGGAGTG	0.512000													61	100					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92467660	92467660	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92467660G>T	ENST00000370389.2	+	16	3047	c.2123G>T	c.(2122-2124)aGt>aTt	p.S708I	BRDT_ENST00000402388.1_Missense_Mutation_p.S781I|BRDT_ENST00000394530.3_Missense_Mutation_p.S735I|BRDT_ENST00000399546.2_Missense_Mutation_p.S781I|BRDT_ENST00000362005.3_Missense_Mutation_p.S781I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCTGGTGATAGTGACACAACG	0.338000													6	26					0.00307968	0.00320271	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281071	49281071	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49281071T>G	ENST00000282018.3	+	1	121	c.118T>G	c.(118-120)Ttt>Gtt	p.F40V		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	40					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CAAGAGAGAATTTTTCCCAAT	0.398000													16	36					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912218	101912218	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101912218G>A	ENST00000537097.1	+	6	4190	c.3377G>A	c.(3376-3378)cGa>cAa	p.R1126Q	GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1126Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1126Q	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1126	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGGAAATTCGAGAGCATCTT	0.463000													52	76					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78868324	78868324	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:78868324A>G	ENST00000286627.5	-	9	2090	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L	KCNMA1_ENST00000372443.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.F380L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F380L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	380					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAGCTGGCAAACATGGCCTGA	0.468000													17	34					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244441	6244441	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6244441A>G	ENST00000265978.4	-	4	1163	c.805T>C	c.(805-807)Tac>Cac	p.Y269H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.Y269H|FAM160A2_ENST00000449352.2_Missense_Mutation_p.Y269H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	269					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGATGAGTACAGGGCACTG	0.478000													20	168					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527311	16527311	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16527311T>C	ENST00000311331.7	-	6	980	c.889A>G	c.(889-891)Act>Gct	p.T297A		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTAGTATGAGTTCTTTGATGT	0.343000													21	51					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907717	164907717	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164907717C>A	ENST00000475390.1	-	2	1345	c.902G>T	c.(901-903)aGt>aTt	p.S301I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S301I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	301						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTCTCCTTACTTGATGACGA	0.438000										HNSCC(40;0.11)			37	65					3.6622e-26	5.17531e-26	1	1	0
USP24	23358	broad.mit.edu	37	1	55624553	55624553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55624553C>A	ENST00000294383.6	-	10	1224	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E297*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	409					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAACTTACTTCTTTGAGAGAA	0.348000													5	11					0.000602214	0.000636035	1	1	0
SLC12A6	9990	broad.mit.edu	37	15	34531322	34531322	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34531322A>C	ENST00000354181.3	-	20	2968	c.2476T>G	c.(2476-2478)Ttc>Gtc	p.F826V	SLC12A6_ENST00000560611.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F638V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F638V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F811V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F817V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F775V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F826V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	826					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCTGGCAGAATCCTTTTACC	0.527000													52	101					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242795030	242795030	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242795030G>A	ENST00000334409.5	-	2	248	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	60	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAAGCTCTCCGATGTGTTGGA	0.657000													14	26					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938499	12938499	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:12938499T>C	ENST00000218032.6	+	2	1427	c.1340T>C	c.(1339-1341)tTt>tCt	p.F447S	TLR8_ENST00000311912.5_Missense_Mutation_p.F465S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	447					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTTCCTCTTTTCAACGTCAT	0.378000													43	18					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58441904	58441904	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58441904C>A	ENST00000396147.1	-	3	316	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	ZNF418_ENST00000425570.3_Missense_Mutation_p.D30Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000600989.1_Missense_Mutation_p.D9Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACAGCCACATCTTCAAATGCC	0.512000													34	82					2.20474e-14	2.87106e-14	1	1	0
YAE1D1	57002	broad.mit.edu	37	7	39611989	39611989	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:39611989A>T	ENST00000223273.2	+	3	408	c.365A>T	c.(364-366)aAa>aTa	p.K122I	YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	122																	AAACATCTGAAATCAATCACT	0.378000													19	42					0	0	1	0	0
PCDHA4	0	broad.mit.edu	37	5	140188074	140188074	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140188074G>A	ENST00000530339.1	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.612000													93	144					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747358	21747358	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21747358G>A	ENST00000328843.6	+	41	6640	c.6609G>A	c.(6607-6609)caG>caA	p.Q2203Q	DNAH11_ENST00000409508.3_Silent_p.Q2196Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2203	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACATGAAACAGAAGCCGGTTT	0.388000									Kartagener syndrome				9	23					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874726	80874726	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80874726C>T	ENST00000466387.1	+	22	3171	c.2447C>T	c.(2446-2448)tCg>tTg	p.S816L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.S864L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S850L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S771L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S495L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	864					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGCCACATCGCTTATCCAG	0.448000													33	69					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25314002	25314002	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25314002A>G	ENST00000524413.1	+	3	2197	c.1850A>G	c.(1849-1851)gAc>gGc	p.D617G	THNSL1_ENST00000376356.4_Missense_Mutation_p.D617G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	617					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TTTGTAGCTGACTGGTGCTCT	0.413000													29	45					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920137	10920137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10920137G>A	ENST00000298232.7	-	18	1430	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.R335*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R373*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	373	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATCTGTTCGCCTTTCTCCA	0.383000													11	61					0	0	1	0	0
RIMS1	0	broad.mit.edu	37	6	72806813	72806813	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72806813G>A	ENST00000264839.7	+	3	407	c.407G>A	c.(406-408)cGc>cAc	p.R136H	RIMS1_ENST00000522291.1_Missense_Mutation_p.R136H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R136H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R136H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R136H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R136H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136H			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	136	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R136H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCTATTGTCGCACTAAGTTC	0.507000													14	25					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1510831	1510831	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1510831C>T	ENST00000382745.4	-	5	1075	c.470G>A	c.(469-471)aGg>aAg	p.R157K	CLCN7_ENST00000448525.1_Missense_Mutation_p.R133K|CLCN7_ENST00000262318.8_Missense_Mutation_p.R133K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	157						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTTGATGACCCTGTACTTGAG	0.637000													15	41					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961799	100961799	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100961799A>G	ENST00000375066.5	-	13	2709	c.2618T>C	c.(2617-2619)gTc>gCc	p.V873A	TBC1D2_ENST00000342112.5_Missense_Mutation_p.V666A|TBC1D2_ENST00000375063.1_Missense_Mutation_p.V424A|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	884						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCCCGGTGGACCATGCGCAG	0.637000													89	171					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128696430	128696430	+	Missense_Mutation	SNP	C	C	T	rs137853831		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128696430C>T	ENST00000371113.4	+	11	1174	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	OCRL_ENST00000357121.5_Missense_Mutation_p.R337C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	337			R -> C (in OCRL; associated with I-361; dbSNP:rs137853831).|R -> P (in OCRL).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGATACATTCGTGATATTGC	0.393000													53	103					0	0	1	0	0
PDE1B	0	broad.mit.edu	37	12	54963137	54963137	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54963137A>G	ENST00000243052.3	+	4	833	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.I92V|PDE1B_ENST00000550620.1_Missense_Mutation_p.I113V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	133					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GCAGGCTGGGATCTTCGTGGA	0.637000													20	38					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34263626C>T	ENST00000262622.3	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	311					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652000													21	35					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74472181	74472181	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74472181A>G	ENST00000437994.2	+	8	1264	c.833A>G	c.(832-834)aAa>aGa	p.K278R	CD109_ENST00000422508.2_Missense_Mutation_p.K201R|CD109_ENST00000287097.5_Missense_Mutation_p.K278R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	278						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAAAGAAGAAAAATATTACA	0.289000													11	17					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644184	37644184	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37644184C>A	ENST00000356958.4	-	5	875	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF585A_ENST00000292841.5_Missense_Mutation_p.R151I|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTCTGATGCCT	0.388000													23	54					5.26018e-13	6.70247e-13	1	1	0
HECTD1	25831	broad.mit.edu	37	14	31637631	31637631	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31637631C>A	ENST00000399332.1	-	10	1983	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D499Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	499					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTTTGTATCTTTCTTTTTC	0.328000													44	65					5.20006e-24	7.2863e-24	1	1	0
BCKDK	10295	broad.mit.edu	37	16	31122015	31122015	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31122015T>G	ENST00000394951.1	+	9	1272	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	BCKDK_ENST00000394950.3_Missense_Mutation_p.F217V|BCKDK_ENST00000219794.6_Missense_Mutation_p.F217V|BCKDK_ENST00000287507.3_Missense_Mutation_p.F217V			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	217	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCAGCCTGACTTTGTCGGCAT	0.577000													7	135					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10819165	10819165	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10819165C>A	ENST00000313243.2	-	3	492	c.110G>T	c.(109-111)aGa>aTa	p.R37I	MAK_ENST00000536370.1_Missense_Mutation_p.R37I|MAK_ENST00000474039.1_Missense_Mutation_p.R37I|MAK_ENST00000354489.2_Missense_Mutation_p.R37I|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.R37I|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	37	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATAGAACTTTCTCTTCATCCT	0.378000													7	4					0.000157383	0.000169016	1	1	0
TTC39C	125488	broad.mit.edu	37	18	21644103	21644103	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21644103G>T	ENST00000317571.3	+	2	403		c.e2-1		TTC39C_ENST00000578150.1_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C								binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTTTAACAGAAATCATAGC	0.294000													22	30					3.08376e-08	3.62155e-08	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207174556	207174556	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207174556G>T	ENST00000374423.3	+	5	5690	c.5304G>T	c.(5302-5304)aaG>aaT	p.K1768N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1768							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACTGTTAAGAAAAGACACC	0.423000													11	22					0.000978159	0.00102903	1	1	0
RNF32	140545	broad.mit.edu	37	7	156451252	156451252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156451252C>A	ENST00000392741.2	+	6	760	c.672C>A	c.(670-672)ttC>ttA	p.F224L	RNF32_ENST00000405335.1_Missense_Mutation_p.F224L|RNF32_ENST00000343665.4_Missense_Mutation_p.F200L|RNF32_ENST00000392743.2_Missense_Mutation_p.F224L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.F224L|RNF32_ENST00000311822.8_Missense_Mutation_p.F224L|RNF32_ENST00000432459.2_Missense_Mutation_p.F224L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	224						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAAAAAATTCTTTGAAAAAA	0.423000													14	25					3.27435e-08	3.83577e-08	1	1	0
ME2	4200	broad.mit.edu	37	18	48446854	48446854	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48446854G>A	ENST00000321341.5	+	8	1035	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ME2_ENST00000382927.3_Missense_Mutation_p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	255					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CATTCAGTTCGAAGACTTTGG	0.338000													8	23					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67302906	67302906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67302906C>A	ENST00000392676.3	-	6	812	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E250*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E250*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	250					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTAAAAATTCTTTTATTTTT	0.239000													7	17					0.27861	0.279356	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122641234	122641234	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122641234C>T	ENST00000195173.4	-	11	1636	c.1333G>A	c.(1333-1335)Gcg>Acg	p.A445T	SEMA5B_ENST00000357599.3_Missense_Mutation_p.A445T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A499T			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	445	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCGCTGCGCGTCCTGCAGG	0.701000													8	12					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575414	61575414	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61575414C>A	ENST00000398571.2	-	15	1952	c.1876G>T	c.(1876-1878)Gac>Tac	p.D626Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	626					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCATCGTCTTCATCTTCC	0.488000													22	37					4.35082e-09	5.20082e-09	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109695280	109695280	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109695280G>T	ENST00000465301.2	+	3	1681	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	RGAG1_ENST00000540313.1_Missense_Mutation_p.G479C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	479										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGCCCACAGGCTCTATGAA	0.507000													15	311					2.61681e-11	3.25035e-11	1	1	0
NAA16	79612	broad.mit.edu	37	13	41943339	41943339	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41943339A>C	ENST00000379406.3	+	15	2191	c.1867A>C	c.(1867-1869)Aat>Cat	p.N623H	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	623					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						tcaacagaaaaatcaaaagaa	0.358000													20	27					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110531	33110531	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33110531T>G	ENST00000267068.3	-	2	798	c.634A>C	c.(634-636)Aat>Cat	p.N212H	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N212H|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	212										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGAGACCATTATTATGACCC	0.348000													19	39					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838084	92838084	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92838084G>T	ENST00000394468.2	-	4	898	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S297Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	274	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGGGGATGAGAATCAGCAGA	0.438000													6	68					3.59834e-05	3.93264e-05	1	1	0
LY6G6F	259215	broad.mit.edu	37	6	31678182	31678182	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31678182T>C	ENST00000375832.4	+	5	878	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	286						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAACATCCATTTGGCCCGTCT	0.542000													169	56					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284347	167284347	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167284347C>A	ENST00000409855.1	-	17	2930	c.2804G>T	c.(2803-2805)tGg>tTg	p.W935L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	935					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACTTAAACCAATTGTTCTC	0.448000													16	17					2.23348e-06	2.50077e-06	1	1	0
ADCY2	108	broad.mit.edu	37	5	7784477	7784477	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7784477G>T	ENST00000338316.4	+	19	2473		c.e19-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTTTAATAGACCAGGCATT	0.393000													9	23					3.09899e-07	3.54467e-07	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44671793	44671793	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44671793G>T	ENST00000454036.1	+	9	1213	c.1135_splice	c.e9-1	p.E379_splice	SLC12A5_ENST00000243964.3_Splice_Site_p.E356_splice|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	379					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)	TCCCCACAGAGAACCTCTGGA	0.607000													7	217					0.248553	0.24944	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17141460	17141460	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17141460T>C	ENST00000265970.7	-	15	2718	c.2719A>G	c.(2719-2721)Aat>Gat	p.N907D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N527D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	907					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GGAAGACAATTTGGGTGTTTG	0.353000													22	40					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116408498	116408498	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116408498C>A	ENST00000281928.3	-	27	6174	c.5968G>T	c.(5968-5970)Gat>Tat	p.D1990Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1990					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAGAAGCATCTTGAGGGGTG	0.453000													27	37					1.03073e-24	1.44895e-24	1	1	0
GCKR	2646	broad.mit.edu	37	2	27728635	27728635	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27728635G>T	ENST00000264717.2	+	10	864	c.801G>T	c.(799-801)aaG>aaT	p.K267N	GCKR_ENST00000424318.2_Missense_Mutation_p.K77N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	267	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTGCCACCAAGATTCTGCTGG	0.542000													34	67					9.78485e-24	1.37003e-23	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15795927	15795927	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15795927G>A	ENST00000550308.1	+	9	1415	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	CYP4F12_ENST00000324632.9_Silent_p.A345A	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)					ACAACCTTGCGAGGCACCCAG	0.592000													22	36					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620981	7620981	+	Silent	SNP	G	G	A	rs117160055		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7620981G>A	ENST00000486284.1	+	8	2662	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	GRM7_ENST00000402647.2_Silent_p.T796T|GRM7_ENST00000357716.4_Silent_p.T796T|GRM7_ENST00000403881.1_Silent_p.T796T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.T796T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	796					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTATGTACACGACATGTATAG	0.403000													15	20					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23408000	23408000	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23408000C>T	ENST00000400181.4	+	19	2336	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	KDM1A_ENST00000356634.3_Silent_p.D720D|KDM1A_ENST00000542151.1_Silent_p.D744D|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	720	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACATAAGTGACGATGTGATTG	0.483000													31	43					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275493	152275493	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152275493G>T	ENST00000368799.1	-	3	11904	c.11869C>A	c.(11869-11871)Cat>Aat	p.H3957N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3957					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)			GATTGATAATGATAAGAACTA	0.428000									Ichthyosis				38	50					6.70999e-13	8.51699e-13	1	1	0
USP29	0	broad.mit.edu	37	19	57642424	57642424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57642424A>G	ENST00000254181.4	+	4	2835	c.2381A>G	c.(2380-2382)aAc>aGc	p.N794S	USP29_ENST00000598197.1_Missense_Mutation_p.N794S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	794					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACCCAGGAAACAAAAACATT	0.458000													5	37					0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68353863	68353863	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:68353863A>C	ENST00000487270.1	+	7	746	c.698A>C	c.(697-699)aAg>aCg	p.K233T	RAD51B_ENST00000488612.1_Missense_Mutation_p.K233T|RAD51B_ENST00000487861.1_Missense_Mutation_p.K233T|RAD51B_ENST00000390683.3_Missense_Mutation_p.K233T|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Missense_Mutation_p.K233T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	233					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAAAGAAACAAGTTCTTGGCA	0.363000								Direct reversal of damage					18	30					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84563198	84563198	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84563198G>A	ENST00000262753.4	-	10	1127	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	POF1B_ENST00000373145.3_Missense_Mutation_p.L328F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	328							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTAGTCGGAGTGACTTATCA	0.338000													11	28					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857447	90857447	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90857447G>A	ENST00000394980.1	+	7	2935	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	MMRN1_ENST00000508372.1_Silent_p.T614T|MMRN1_ENST00000264790.2_Silent_p.T872T|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	872					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTACCCAGACGCTCATACCTT	0.343000													10	17					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96354558	96354558	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96354558T>G	ENST00000348459.5	+	19	2300	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	HELLS_ENST00000371332.4_Missense_Mutation_p.I778S|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.I634S	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	732	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCAGAAAATTGTGGAAAGA	0.373000													4	26					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72860427	72860427	+	Missense_Mutation	SNP	C	C	T	rs111830964		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72860427C>T	ENST00000455107.2	-	10	1129	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	FDXR_ENST00000442102.2_Missense_Mutation_p.R325Q|FDXR_ENST00000413947.2_Missense_Mutation_p.R313Q|FDXR_ENST00000544854.1_Missense_Mutation_p.R230Q|FDXR_ENST00000583917.1_Missense_Mutation_p.R254Q|FDXR_ENST00000420580.2_Missense_Mutation_p.R242Q|FDXR_ENST00000582944.1_Missense_Mutation_p.R274Q|FDXR_ENST00000293195.5_Missense_Mutation_p.R282Q|FDXR_ENST00000581530.1_Missense_Mutation_p.R288Q			P22570	ADRO_HUMAN	ferredoxin reductase	282					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTGGCCGTTCGAAGCAGCAG	0.687000													15	28					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967372	91967372	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91967372G>T	ENST00000428239.1	+	2	358	c.99G>T	c.(97-99)caG>caT	p.Q33H	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.Q33H|CDC7_ENST00000430031.2_Missense_Mutation_p.Q33H	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	33					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AAAACGAGCAGAATTTTAAAC	0.393000													4	69					0.150653	0.151842	1	1	0
ANAPC4	29945	broad.mit.edu	37	4	25418156	25418156	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:25418156T>C	ENST00000315368.3	+	27	2153	c.2011T>C	c.(2011-2013)Ttg>Ctg	p.L671L	ANAPC4_ENST00000510092.1_Silent_p.L672L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	671					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CCAGCTGCCTTTGTCTTTAGT	0.358000													16	43					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21365476	21365476	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21365476G>T	ENST00000311048.7	+	5	514	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	ZNF431_ENST00000600692.1_Missense_Mutation_p.R131I|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGACATAAAAGATTCTTTTCA	0.333000													20	25					5.03518e-11	6.23768e-11	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47767735	47767735	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47767735T>A	ENST00000263773.5	-	7	1130	c.1118A>T	c.(1117-1119)gAa>gTa	p.E373V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	373										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAACATAATTTCCTGTGGCTT	0.388000													44	96					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921632	108921632	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108921632T>G	ENST00000326853.5	+	7	993	c.540T>G	c.(538-540)gtT>gtG	p.V180V	SULT1C2_ENST00000437390.2_Silent_p.V183V|SULT1C2_ENST00000409880.1_Silent_p.V132V|SULT1C2_ENST00000251481.6_Silent_p.V169V	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTTCAGTGGTTTGGGGTTCCT	0.428000													43	65					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26487340	26487340	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487340A>G	ENST00000295589.3	-	3	739	c.545T>C	c.(544-546)tTg>tCg	p.L182S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AAAAGGCACCAAGTTGCTATA	0.458000													16	34					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905590	3905590	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:3905590G>A	ENST00000450849.2	+	4	762	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ATCAY_ENST00000301260.6_Missense_Mutation_p.E99K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E105K|ATCAY_ENST00000600960.1_Missense_Mutation_p.E99K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	99					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGATGACATCGAGACCCCCGA	0.557000													47	55					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171528	214171528	+	Silent	SNP	C	C	A	rs35176368		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:214171528C>A	ENST00000366958.4	+	2	2258	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	PROX1_ENST00000498508.2_Silent_p.L550L|PROX1_ENST00000435016.1_Silent_p.L550L|PROX1_ENST00000261454.4_Silent_p.L550L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	550					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGAAGGGCTCTCCTTGTCGC	0.517000													38	83					2.2871e-25	3.22072e-25	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94027904	94027904	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94027904T>C	ENST00000370244.1	-	14	2660	c.2372A>G	c.(2371-2373)aAa>aGa	p.K791R	BCAR3_ENST00000260502.6_Missense_Mutation_p.K791R|BCAR3_ENST00000370247.3_Missense_Mutation_p.K700R|BCAR3_ENST00000539242.1_Missense_Mutation_p.K467R|BCAR3_ENST00000370243.1_Missense_Mutation_p.K791R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	791	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGTGCACCTTTGCTGCCCCA	0.388000													33	49					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112179240	112179240	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112179240C>T	ENST00000457016.1	+	16	8329	c.7949C>T	c.(7948-7950)gCt>gTt	p.A2650V	APC_ENST00000508376.2_Missense_Mutation_p.A2650V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A2650V			P25054	APC_HUMAN	adenomatous polyposis coli	2650	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.?(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)		ATGGCACCTGCTGTTTCTAAA	0.418000		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)			37	49					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667000													14	37					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859097	31859097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31859097C>T	ENST00000397525.1	-	6	831	c.608G>A	c.(607-609)cGt>cAt	p.R203H	RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R203H|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R203H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	203	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACCAAAGACACGCTTACTATC	0.403000													3	24					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129100195	129100195	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129100195G>T	ENST00000249344.2	+	13	1498	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	STRIP2_ENST00000435494.2_Missense_Mutation_p.E486D	NM_020704.2	NP_065755.1			striatin interacting protein 2																		AGGAGCTGGAGAAGTGCCCTA	0.473000													7	17					8.12818e-05	8.79784e-05	1	1	0
ANAPC2	29882	broad.mit.edu	37	9	140082342	140082342	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140082342G>A	ENST00000323927.2	-	2	335	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCGTCAAGGAGTAGCAAAAGG	0.587000													33	80					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132006568	132006568	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132006568C>A	ENST00000414305.1	+	14	1513	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ENPP3_ENST00000357639.3_Missense_Mutation_p.F395L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F395L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	395	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAATAAACTTCTTCTACATGT	0.363000													45	95					8.86878e-18	1.19361e-17	1	1	0
CALCOCO1	57658	broad.mit.edu	37	12	54110096	54110096	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54110096T>C	ENST00000548263.1	-	8	1001	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K318R|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.K318R			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	318					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGTCTTTCAGTCGCTG	0.572000													37	52					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155253722	155253722	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155253722A>C	ENST00000357232.3	-	9	2140	c.2141T>G	c.(2140-2142)aTt>aGt	p.I714S	DCHS2_ENST00000339452.1_Missense_Mutation_p.I1213S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	714	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGCTGTAATTTTGCCTAT	0.413000													47	70					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92353567	92353567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92353567C>A	ENST00000267620.10	-	8	1001	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	FBLN5_ENST00000342058.4_Nonsense_Mutation_p.E237*|FBLN5_ENST00000556154.1_Nonsense_Mutation_p.E242*			Q9UBX5	FBLN5_HUMAN	fibulin 5	237	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCCTCAAGTTCATATCCTGGG	0.552000													70	117					1.05635e-38	1.52265e-38	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887640	25887640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887640G>A	ENST00000376351.3	+	11	3444	c.3085G>A	c.(3085-3087)Gta>Ata	p.V1029I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1029						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						TCAAAAGCACGTATCTATTGT	0.458000													19	52					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188343453	188343453	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188343453G>T	ENST00000409676.1	-	8	970	c.706C>A	c.(706-708)Cat>Aat	p.H236N	TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.H236N|TFPI_ENST00000233156.3_Intron			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	0	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATGGATGCATGAATGCAGAAG	0.353000													11	16					0.0692343	0.0701576	1	1	0
ARHGAP26	23092	broad.mit.edu	37	5	142150427	142150427	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:142150427A>C	ENST00000378004.3	+	1	456	c.101A>C	c.(100-102)aAa>aCa	p.K34T	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K34T	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	34					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACCAACAAATTCATCAAG	0.607000													30	50					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110423417	110423417	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110423417G>T	ENST00000392589.1	-	10	1732	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	WASF1_ENST00000392587.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392588.1_Missense_Mutation_p.S299Y|WASF1_ENST00000359451.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392586.1_Missense_Mutation_p.S299Y	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	299					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACCTGTAGCAGAACTGAAATG	0.418000													36	68					7.04047e-22	9.7605e-22	1	1	0
SCUBE1	80274	broad.mit.edu	37	22	43608571	43608571	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:43608571G>A	ENST00000360835.3	-	17	2207	c.2081C>T	c.(2080-2082)gCc>gTc	p.A694V		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	694					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GAAGCCATCGGCCGAGAAGAA	0.677000													4	12					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19346945	19346945	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19346945C>A	ENST00000307015.9	+	19	3494	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	DENND4C_ENST00000434457.2_Missense_Mutation_p.S1393Y|DENND4C_ENST00000380432.2_Missense_Mutation_p.S1108Y|DENND4C_ENST00000602925.1_Missense_Mutation_p.S1344Y|DENND4C_ENST00000540671.1_Missense_Mutation_p.S438Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1108						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTAGTAAATTCTTTGTCAGGG	0.463000													10	32					3.86212e-05	4.21111e-05	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327758	57327758	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57327758G>A	ENST00000326441.9	-	10	2415	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	PEG3_ENST00000598410.1_Silent_p.L560L|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.L684L|PEG3_ENST00000593695.1_Silent_p.L558L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	684					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAAAGTCACAGAGCTTCTCCT	0.448000													16	62					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106209891	106209891	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:106209891G>T	ENST00000369704.3	+	17	2573	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	813										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)		ATGAGGTAGAGAAACTTACCA	0.318000													24	48					1.85244e-09	2.22951e-09	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7707670	7707670	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7707670G>T	ENST00000572933.1	+	59	10529	c.9069G>T	c.(9067-9069)gtG>gtT	p.V3023V	DNAH2_ENST00000389173.2_Silent_p.V3023V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3023	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGCAAGTGATGTCGTTGG	0.542000													23	66					2.32416e-17	3.12201e-17	1	1	0
FYN	2534	broad.mit.edu	37	6	112020831	112020831	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112020831G>A	ENST00000368682.3	-	9	961	c.740C>T	c.(739-741)tCg>tTg	p.S247L	FYN_ENST00000368667.2_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000538466.1_Missense_Mutation_p.S247L|FYN_ENST00000354650.3_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.S247L|FYN_ENST00000229470.5_Missense_Mutation_p.S198L|FYN_ENST00000476769.2_Intron			P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	247					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGTACAACTCGATGCAATCAC	0.418000													21	51					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4776603	4776603	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4776603C>T	ENST00000379400.3	-	5	340	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	49					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACAATGAACTCGTCTTCTTCC	0.552000													6	49					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320125	79320125	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79320125A>C	ENST00000419573.3	-	9	1613	c.1339T>G	c.(1339-1341)Tgt>Ggt	p.C447G	RASGRF1_ENST00000558480.2_Missense_Mutation_p.C447G|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	447					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGATCTCACAGCCTTCGATG	0.577000													5	109					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681792	67681792	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67681792C>T	ENST00000334583.6	+	13	1330	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	RLTPR_ENST00000545661.1_Silent_p.F334F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	334								p.F334F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ATGCCGCCTTCGACTCCACCC	0.672000													9	18					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17191113	17191113	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17191113A>G	ENST00000285681.2	+	10	1397	c.1028A>G	c.(1027-1029)gAa>gGa	p.E343G	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.E343G|USP25_ENST00000400183.2_Missense_Mutation_p.E343G			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	343					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCAATGATTGAAGGAGAAATT	0.383000													32	55					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25144756	25144756	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25144756G>T	ENST00000453498.1	+	0	297																											TGACGGGTATGAATATGAACA	0.478000													8	25					2.74318e-10	3.35981e-10	1	1	0
BPI	671	broad.mit.edu	37	20	36938940	36938940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36938940C>T	ENST00000262865.4	+	4	523	c.434C>T	c.(433-435)tCg>tTg	p.S145L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	145					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTCCATTTCGGCTGATCTG	0.507000													25	42					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67111054	67111054	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67111054T>C	ENST00000284425.2	-	13	1805	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	544	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCAGAGAGATTTTTATTATA	0.308000													15	27					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719871	21719871	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21719871A>C	ENST00000358491.4	+	4	1224	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTGGTGAGAAACCCTACAAA	0.388000													4	58					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724396	38724396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38724396C>T	ENST00000342213.2	-	1	1178	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	278	EGF-like.					integral to membrane	sugar binding	p.E278Q(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTCCCCAGCTCGAAGCCCGTA	0.672000													46	90					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138901568	138901568	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138901568G>T	ENST00000370557.1	-	3	1193	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	ATP11C_ENST00000327569.3_Missense_Mutation_p.L59I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L59I|ATP11C_ENST00000359686.2_Missense_Mutation_p.L59I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L59I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	59					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGGGAGAAAATTCCAA	0.323000													5	19					0.014758	0.015099	1	1	0
TIMP1	7076	broad.mit.edu	37	X	47444652	47444652	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47444652G>A	ENST00000456754.2	+	4	325	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.V84I|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_Silent_p.S7S|TIMP1_ENST00000377017.1_Missense_Mutation_p.V20I			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	84	NTR.				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CATCCGGTTCGTCTACACCCC	0.562000													5	33					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79947407	79947407	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79947407T>C	ENST00000373275.4	-	30	3612	c.3396A>G	c.(3394-3396)aaA>aaG	p.K1132K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1132										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTCCTGGGGTTTGTATAGCA	0.448000													11	23					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88389380	88389380	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88389380G>T	ENST00000333190.4	+	1	699	c.90G>T	c.(88-90)aaG>aaT	p.K30N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	30						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTGTGCAAGAACGGATCTC	0.502000										HNSCC(36;0.09)			32	80					9.65021e-13	1.22324e-12	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103548435	103548435	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:103548435G>T	ENST00000358392.2	-	2	517	c.200C>A	c.(199-201)tCt>tAt	p.S67Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.S67Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.S67Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S67Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	67	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAGCCTTTAGAATTCTTTCT	0.358000													20	50					1.22574e-08	1.45102e-08	1	1	0
CUZD1	50624	broad.mit.edu	37	10	124594383	124594383	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124594383C>A	ENST00000368904.1	-	9	2170	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	CUZD1_ENST00000545804.1_Missense_Mutation_p.K407N|CUZD1_ENST00000392790.1_Missense_Mutation_p.K407N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	407	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAAGTATAGTCTTTTCAAATG	0.333000													8	25					1.06961e-07	1.24214e-07	1	1	0
TTLL2	83887	broad.mit.edu	37	6	167755167	167755167	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:167755167A>C	ENST00000239587.5	+	3	1867	c.1779A>C	c.(1777-1779)taA>taC	p.*593Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	0					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACATTCCTAAGTGGTAAAAA	0.373000													4	25					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115666	61115666	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61115666G>T	ENST00000247182.6	-	1	514	c.242C>A	c.(241-243)cCc>cAc	p.P81H	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	81					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTGCAGTTTGGGGTGGTTGTG	0.627000													69	162					9.68594e-22	1.33983e-21	1	1	0
ZXDA	7789	broad.mit.edu	37	X	57935107	57935107	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57935107G>T	ENST00000358697.4	-	1	1960	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	583	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGTGTAAGAGAATTTGCTGC	0.453000													46	98					2.24722e-20	3.07898e-20	1	1	0
RGS22	26166	broad.mit.edu	37	8	101117607	101117607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101117607C>A	ENST00000360863.6	-	2	243	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*|RGS22_ENST00000523287.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	17					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E17*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTACAAATTCTTCTTCTGTA	0.328000													19	26					1.15919e-05	1.28007e-05	1	1	0
FAM193B	54540	broad.mit.edu	37	5	176951478	176951478	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176951478G>A	ENST00000329540.5	-	9	3711	c.882C>T	c.(880-882)gtC>gtT	p.V294V	FAM193B_ENST00000514747.1_Silent_p.V668V|FAM193B_ENST00000443375.2_Silent_p.V635V			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	344										kidney(1)|large_intestine(3)	4						TGGGGCCAGCGACCTGGCCCT	0.682000													9	20					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134183838	134183838	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134183838T>C	ENST00000431683.2	+	17	1583	c.1583T>C	c.(1582-1584)aTa>aCa	p.I528T		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	528					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCTGCAGGAATAACTGGATCT	0.468000													11	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588843	179588843	+	Missense_Mutation	SNP	C	C	T	rs148072021	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179588843C>T	ENST00000589042.1	-	73	21367	c.21143G>A	c.(21142-21144)cGa>cAa	p.R7048Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5804Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R6731Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6731	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5804L(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)			TTTCAGTCTTCGTGTGAAAGA	0.418000													9	15					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228913	118228913	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118228913G>A	ENST00000360388.4	+	1	225	c.24G>A	c.(22-24)caG>caA	p.Q8Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	8					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGCAGCCGCAGCAGCAGCTGC	0.741000													12	11					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56738059	56738059	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56738059A>G	ENST00000381295.2	+	8	1357	c.1009A>G	c.(1009-1011)Agt>Ggt	p.S337G	EXOC1_ENST00000346134.7_Missense_Mutation_p.S337G|EXOC1_ENST00000349598.6_Missense_Mutation_p.S337G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	337					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCAGCGATTCAGTGATTTGCG	0.413000													25	45					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080594	34080594	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34080594C>T	ENST00000389232.4	+	67	9835	c.9765C>T	c.(9763-9765)ttC>ttT	p.F3255F	RYR3_ENST00000415757.3_Silent_p.F3255F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3255					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACGAGTTCGCGGTCCTCT	0.567000													32	74					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51500889	51500889	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51500889C>T	ENST00000335891.5	-	3	200	c.191G>A	c.(190-192)cGa>cAa	p.R64Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	64					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATCAGCTCGACCTACCAA	0.453000													20	21					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149495167	149495167	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:149495167G>T	ENST00000378016.2	+	0	6915							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCAGAGACTGAGCACT	0.667000													23	34					1.85244e-09	2.22951e-09	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009147	88009147	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:88009147T>C	ENST00000276127.4	+	3	991	c.732T>C	c.(730-732)atT>atC	p.I244I	CPXCR1_ENST00000373111.1_Silent_p.I244I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	244						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGATACAAATTGAAAGTATTT	0.318000													8	4					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121726	103121726	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103121726G>A	ENST00000295269.4	+	4	1451	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	332					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						CACAGCCTGCGCAGTAACAAT	0.483000													9	22					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75445593	75445593	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75445593G>A	ENST00000297784.5	+	23	2795	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.R752Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R752Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	752	Poly-Ala.				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAGCTGCACGAGCAGGTTGG	0.323000													9	17					0	0	1	0	0
STK32A	202374	broad.mit.edu	37	5	146722600	146722600	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146722600G>A	ENST00000397936.3	+	6	799	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	STK32A_ENST00000398523.3_Missense_Mutation_p.E156K|STK32A_ENST00000541094.1_Missense_Mutation_p.E156K|STK32A_ENST00000398521.3_Missense_Mutation_p.E156K	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	156	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACTTGACGAACATGGTAA	0.373000													27	57					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505212	195505212	+	Missense_Mutation	SNP	C	C	T	rs141462807	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195505212C>T	ENST00000463781.3	-	3	13364	c.12905G>A	c.(12904-12906)cGc>cAc	p.R4302H	MUC4_ENST00000346145.4_Missense_Mutation_p.R66H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R4302H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1059					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTGTGGAGCGGGTGTGCAT	0.597000													23	43					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120079578	120079578	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:120079578C>A	ENST00000332843.2	+	1	99	c.58C>A	c.(58-60)Ctt>Att	p.L20I	COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	20						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTACTATTTCTTTTGCAAAT	0.453000													16	32					3.45872e-05	3.78815e-05	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76592493	76592493	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:76592493G>T	ENST00000307431.8	+	25	4222	c.3837G>T	c.(3835-3837)gaG>gaT	p.E1279D	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E1207D|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E1283D|CNTNAP4_ENST00000469589.1_3'UTR|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E1231D	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1280					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAAGGTCAGAGAATGTAGACA	0.373000													13	21					4.3838e-07	4.998e-07	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92958061	92958061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92958061C>T	ENST00000532405.1	+	15	1816	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SLC24A4_ENST00000298877.1_Silent_p.I513I|SLC24A4_ENST00000393265.2_Silent_p.I466I|SLC24A4_ENST00000531433.1_Silent_p.I511I|SLC24A4_ENST00000351924.5_Silent_p.I494I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	530						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGTTTGACATCCTGGTAGGAC	0.468000													4	63					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690545	96690545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96690545C>T	ENST00000434632.1	-	15	1863	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	GPAT2_ENST00000453542.1_Silent_p.T397T|GPAT2_ENST00000359548.4_Silent_p.T468T|GPAT2_ENST00000377137.3_Silent_p.T468T			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	468					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGAGCAGCAGCGTTGCCATAA	0.657000													80	166					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799474	76799474	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76799474G>A	ENST00000312010.6	-	16	3127	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	USP36_ENST00000542802.2_Missense_Mutation_p.R935W|USP36_ENST00000449938.2_Missense_Mutation_p.R540W	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	935					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TACCTGTGCCGAAGTGGGTCC	0.562000													19	50					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105907729	105907729	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105907729A>G	ENST00000357060.3	-	29	3803	c.3688T>C	c.(3688-3690)Ttt>Ctt	p.F1230L	WDR96_ENST00000428666.1_Missense_Mutation_p.F1231L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1230										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AATAAAGAAAATGCAAGGTTA	0.338000													7	21					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95800138	95800138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95800138C>A	ENST00000414645.2	+	18	1964	c.1865C>A	c.(1864-1866)tCa>tAa	p.S622*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	622						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CAAATCTATTCAAAGCGATCT	0.279000													8	27					1.76689e-08	2.08373e-08	1	1	0
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166974561C>A	ENST00000367872.4	+	8	1016	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L227I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	258					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398000													14	18					1.52009e-12	1.92208e-12	1	1	0
FAT3	120114	broad.mit.edu	37	11	92498214	92498214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92498214C>A	ENST00000298047.6	+	5	4171	c.4154C>A	c.(4153-4155)tCt>tAt	p.S1385Y	FAT3_ENST00000525166.1_Missense_Mutation_p.S1235Y|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.S1385Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1385	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGTGGTGTCTGTGCAGCCA	0.438000										TCGA Ovarian(4;0.039)			10	20					0.00621372	0.0064192	1	1	0
FMN1	342184	broad.mit.edu	37	15	33261472	33261472	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33261472C>A	ENST00000334528.9	-	4	1760	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	FMN1_ENST00000561249.1_Missense_Mutation_p.E712D|FMN1_ENST00000559047.1_Missense_Mutation_p.E810D	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	810	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAGGAAGGTCTCTCTGTCTG	0.483000													24	343					1.64293e-13	2.10822e-13	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26465660	26465660	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:26465660C>A	ENST00000265944.5	+	31	4490	c.4324C>A	c.(4324-4326)Ctg>Atg	p.L1442M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1442					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATTTCATTCTGCAGAAAAA	0.378000													8	31					0.0381472	0.0387537	1	1	0
FMN2	56776	broad.mit.edu	37	1	240492401	240492401	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240492401A>C	ENST00000319653.9	+	9	4471	c.4241A>C	c.(4240-4242)aAa>aCa	p.K1414T	FMN2_ENST00000545751.1_Missense_Mutation_p.K10T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1414	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAACTCGAAAAAATAGAAAAG	0.393000													28	50					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77227525	77227525	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77227525G>A	ENST00000248248.3	+	3	676	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	MON1B_ENST00000320859.6_Missense_Mutation_p.R109Q|MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	109							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGCAGCCAGCGGAAGCATGTG	0.612000													21	44					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97978234	97978234	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:97978234C>A	ENST00000220763.5	+	5	1131	c.921C>A	c.(919-921)gcC>gcA	p.A307A		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	307					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GCGGTGGAGCCTTTATATCAT	0.383000													7	16					0.00198382	0.00207034	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41559882G>T	ENST00000400454.1	-	13	3063	c.2586C>A	c.(2584-2586)ttC>ttA	p.F862L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	862	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGGAAAAGAAACCAGAAT	0.403000													16	26					2.23348e-06	2.50077e-06	1	1	0
PLEKHM1P	0	broad.mit.edu	37	17	62781380	62781380	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62781380G>A	ENST00000582986.1	-	0	2470					NR_024386.1																						GGCATCAGGCGAAAACGTTCT	0.607000													8	21					0	0	1	0	0
PDZD11	51248	broad.mit.edu	37	X	69507613	69507613	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69507613T>C	ENST00000239666.4	-	5	428	c.296A>G	c.(295-297)gAt>gGt	p.D99G	PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.D99G	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	99	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAAATCCACATCATTCACAGC	0.473000													23	46					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48776136	48776136	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48776136G>A	ENST00000316623.5	-	31	4172	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1239	EGF-like 20; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACACTCATCGATGTCTGCAA	0.413000													14	25					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827896	40827896	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40827896C>T	ENST00000373198.3	-	17	2776	c.2541G>A	c.(2539-2541)caG>caA	p.Q847Q	PTPRT_ENST00000373193.3_Silent_p.Q828Q|PTPRT_ENST00000373184.1_Silent_p.Q815Q|PTPRT_ENST00000356100.2_Silent_p.Q834Q|PTPRT_ENST00000373190.1_Silent_p.Q825Q|PTPRT_ENST00000373187.1_Silent_p.Q825Q|PTPRT_ENST00000373201.1_Silent_p.Q815Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	825					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)				CGTTGACGTCCTGAGAACTAG	0.567000													155	348					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56230296	56230296	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56230296C>T	ENST00000264228.4	+	3	648	c.420C>T	c.(418-420)agC>agT	p.S140S	SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	140					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GGCTGCACAGCTTACGAAGAC	0.468000													42	77					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12038927	12038927	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12038927T>C	ENST00000396373.4	+	7	1494	c.1220T>C	c.(1219-1221)aTc>aCc	p.I407T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	407						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTAAACATTATCAGGAAGGAG	0.423000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								35	88					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817882	38817882	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38817882G>A	ENST00000263372.3	+	3	888	c.781G>A	c.(781-783)Gac>Aac	p.D261N		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	261						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACGTGTCCGACCTCCACGG	0.657000													19	56					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139101830	139101830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139101830G>A	ENST00000280612.5	-	10	1510	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	411					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CATTTGTATCGAAGATAAATC	0.438000													12	21					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105452861	105452861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:105452861C>T	ENST00000264122.4	-	9	1516	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	CBLB_ENST00000405772.1_Missense_Mutation_p.A399T|CBLB_ENST00000403724.1_Missense_Mutation_p.A399T|CBLB_ENST00000394027.3_Missense_Mutation_p.A421T|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	399					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACCTGCCATGCCGTAAGGCAA	0.393000			Mis S		AML								15	32					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107620980	107620980	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107620980C>A	ENST00000374736.3	-	7	938		c.e7-1		ABCA1_ENST00000423487.2_Splice_Site	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAAAAATACCTGGAAGCATT	0.393000													25	39					2.48779e-11	3.09215e-11	1	1	0
PANX3	116337	broad.mit.edu	37	11	124489663	124489663	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124489663C>A	ENST00000284288.2	+	4	1078	c.1011C>A	c.(1009-1011)atC>atA	p.I337I		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	337					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GAGCTAACATCTCTGAGCTCA	0.428000													24	55					6.44725e-10	7.85205e-10	1	1	0
CPVL	54504	broad.mit.edu	37	7	29111427	29111427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111427C>A	ENST00000409850.1	-	13	1472	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	CPVL_ENST00000396276.3_Nonsense_Mutation_p.E276*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.E276*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	276					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGATGTGTTCTATGCATTCA	0.488000													8	97					0.000157383	0.000169016	1	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6427545	6427545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6427545C>T	ENST00000449001.2	+	10	1632	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	PLEKHG6_ENST00000011684.7_Silent_p.L412L|PLEKHG6_ENST00000536531.1_Silent_p.L412L|PLEKHG6_ENST00000396988.3_Silent_p.L412L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	412					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ACAGCTGCTGCTGGAGGGGCC	0.642000													26	39					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472478	23472478	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23472478A>C	ENST00000246012.1	+	2	531	c.174A>C	c.(172-174)aaA>aaC	p.K58N		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	58						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AATACAACAAAGAGAGCGAGG	0.463000													49	95					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186949	7186949	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7186949C>A	ENST00000317370.8	+	3	576	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	SLC2A4_ENST00000424875.2_Missense_Mutation_p.S93Y|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S103Y|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	103					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTATCATCTCTCAGTGGCTT	0.617000													27	62					1.17739e-12	1.49076e-12	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141607716	141607716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141607716G>A	ENST00000389484.3	-	29	5865	c.4894C>T	c.(4894-4896)Cga>Tga	p.R1632*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1632					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)		ATAAAAGCTCGTTTAATGGTT	0.338000										TSP Lung(27;0.18)			26	42					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7106763	7106763	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7106763T>G	ENST00000399510.2	-	8	1466	c.614A>C	c.(613-615)aAg>aCg	p.K205T	DLG4_ENST00000399506.2_Missense_Mutation_p.K162T|DLG4_ENST00000485100.1_Missense_Mutation_p.K159T|DLG4_ENST00000302955.6_Missense_Mutation_p.K159T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	162	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTTGATGAGCTTGATCTCCAT	0.602000													36	64					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611406	42611406	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42611406G>T	ENST00000276410.2	-	5	1291	c.936C>A	c.(934-936)atC>atA	p.I312I	CHRNA6_ENST00000534622.1_Silent_p.I297I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	312						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGTGACAAAGATCATGGTGA	0.507000													26	48					4.47668e-21	6.17272e-21	1	1	0
GPBP1	65056	broad.mit.edu	37	5	56545382	56545382	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:56545382A>G	ENST00000424459.3	+	10	2285	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	GPBP1_ENST00000506184.2_Silent_p.E317E|GPBP1_ENST00000511209.1_Silent_p.E309E|GPBP1_ENST00000514387.2_Silent_p.E146E|GPBP1_ENST00000538707.1_Silent_p.E324E|GPBP1_ENST00000264779.6_Silent_p.E324E|GPBP1_ENST00000454432.2_Silent_p.E337E	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ATGAAGATGAAAGCCGTGCTG	0.373000													21	26					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114095638	114095638	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114095638C>A	ENST00000357077.4	+	2	204	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	ANK2_ENST00000394537.3_Missense_Mutation_p.L51M|ANK2_ENST00000264366.6_Missense_Mutation_p.L51M|ANK2_ENST00000506722.1_Missense_Mutation_p.L30M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	51					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGGAATATCTGAAGGGGGG	0.463000													11	22					6.40141e-05	6.95424e-05	1	1	0
ZNF121	7675	broad.mit.edu	37	19	9677366	9677366	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9677366T>G	ENST00000586602.1	-	6	839	c.423A>C	c.(421-423)gaA>gaC	p.E141D	ZNF121_ENST00000320451.6_Missense_Mutation_p.E141D			P58317	ZN121_HUMAN	zinc finger protein 121	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CGTAGGGTTTTTCTACAGTAT	0.378000													17	24					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279903	17279903	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17279903G>A	ENST00000253692.7	-	17	3004	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447V|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399V|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	447						intracellular	protein binding|Rab GTPase activator activity	p.A447G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCACCTTTGGCATTGGTCCT	0.383000													6	18					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70460939	70460939	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70460939G>A	ENST00000373998.1	-	25	4601	c.3904C>T	c.(3904-3906)Cgc>Tgc	p.R1302C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1224C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1314C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1314C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1316C|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1314					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCGTTGCGAGTCCGGAGG	0.577000													14	20					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972297	235972297	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235972297A>G	ENST00000389794.3	-	5	1995	c.1821T>C	c.(1819-1821)ttT>ttC	p.F607F	LYST_ENST00000536965.1_Silent_p.F607F|LYST_ENST00000389793.2_Silent_p.F607F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	607					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATGCTGCTGAAAATTTTTCA	0.333000													37	71					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7678128	7678128	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678128A>C	ENST00000572933.1	+	29	6013	c.4553A>C	c.(4552-4554)aAa>aCa	p.K1518T	DNAH2_ENST00000389173.2_Missense_Mutation_p.K1518T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1518	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATATTCAGAAATCTCTGGAT	0.448000													26	28					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023301	6023301	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6023301T>G	ENST00000330728.4	-	1	1123	c.1078A>C	c.(1078-1080)Aac>Cac	p.N360H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGCAGGTTTTGGATTCCC	0.418000													17	32					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491766	71491766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71491766G>A	ENST00000296755.7	+	5	2882	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	862						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCTAATCGAAGACGAAGA	0.493000													9	196					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239093869	239093869	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239093869A>C	ENST00000254654.3	-	6	660	c.485T>G	c.(484-486)tTt>tGt	p.F162C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	162	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353000													12	16					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88590040	88590040	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88590040G>T	ENST00000361671.5	+	8	728	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	NAA35_ENST00000376040.1_Missense_Mutation_p.D199Y	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	199					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGCTAAAAGATGTGGAGGA	0.294000													18	36					8.34094e-07	9.42356e-07	1	1	0
TM9SF2	9375	broad.mit.edu	37	13	100188971	100188971	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100188971A>G	ENST00000376387.4	+	5	761	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	191					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGGCCATGCAAAAGATGCCTG	0.363000													17	23					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178964	65178964	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178964A>C	ENST00000310045.7	-	2	4385	c.2912T>G	c.(2911-2913)tTt>tGt	p.F971C	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	961						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCTCCTTTTAAATTTTCTTTT	0.378000													14	34					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200193516	200193516	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:200193516G>A	ENST00000443023.1	-	7	2579	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000417098.1_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C|SATB2_ENST00000260926.5_Missense_Mutation_p.R431C|SATB2_ENST00000457245.1_Missense_Mutation_p.R431C			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	431						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTAGATGCGATCTCGCTCC	0.562000													13	21					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827539	99827539	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:99827539G>T	ENST00000524871.1	+	8	965	c.673_splice	c.e8-1	p.E225_splice	CNTN5_ENST00000418526.2_Splice_Site_p.E151_splice|CNTN5_ENST00000528682.1_Splice_Site_p.E225_splice|CNTN5_ENST00000279463.3_Splice_Site_p.E225_splice|CNTN5_ENST00000527185.1_Splice_Site_p.E225_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	225	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTTTCAGAGATCATCTATA	0.383000													4	21					0.150653	0.151842	1	1	0
GC	2638	broad.mit.edu	37	4	72631284	72631284	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:72631284G>T	ENST00000273951.8	-	4	681	c.338C>A	c.(337-339)aCc>aAc	p.T113N	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.T132N|GC_ENST00000513476.1_Missense_Mutation_p.T113N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	113	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GCCCTCTTTGGTGCAGCACTC	0.517000													29	64					1.17739e-12	1.49076e-12	1	1	0
STAU1	6780	broad.mit.edu	37	20	47733749	47733749	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47733749C>T	ENST00000371828.3	-	12	1808	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	STAU1_ENST00000340954.7_Missense_Mutation_p.E435K|STAU1_ENST00000371802.1_Missense_Mutation_p.E441K|STAU1_ENST00000371792.1_Missense_Mutation_p.E433K|STAU1_ENST00000371856.2_Missense_Mutation_p.E516K|STAU1_ENST00000347458.5_Missense_Mutation_p.E435K|STAU1_ENST00000360426.4_Missense_Mutation_p.E435K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	516						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GATACAAATTCGTTCTTGTTG	0.483000													39	56					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48525433	48525433	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48525433C>T	ENST00000339841.2	+	6	699	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S26F	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	174					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTAGGAATTTCCGCGTTGGTC	0.453000													31	64					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802552	109802552	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802552A>G	ENST00000230122.3	-	2	845	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCTCCTCTCTACTTGGCTCAC	0.453000													67	117					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29368262	29368262	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29368262A>C	ENST00000558402.1	+	7	1636	c.1037A>C	c.(1036-1038)aAg>aCg	p.K346T	APBA2_ENST00000558259.1_Missense_Mutation_p.K346T|APBA2_ENST00000558330.1_Missense_Mutation_p.K346T|APBA2_ENST00000561069.1_Missense_Mutation_p.K346T|APBA2_ENST00000411764.1_Missense_Mutation_p.K346T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	346					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TAACAGACAAAGAAGGTGGCA	0.368000													5	67					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922412	108922412	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108922412C>T	ENST00000375887.4	+	1	347	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	TNFSF13B_ENST00000542136.1_Silent_p.L57L|TNFSF13B_ENST00000430559.1_Silent_p.L57L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	57					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GCTGGCACTGCTGTCTTGCTG	0.622000													30	147					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904369	23904369	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23904369T>G	ENST00000382298.3	-	10	14234	c.13646A>C	c.(13645-13647)aAt>aCt	p.N4549T	SACS_ENST00000402364.1_Missense_Mutation_p.N3799T|SACS_ENST00000382292.3_Missense_Mutation_p.N4549T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4549	HEPN.		N -> D (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACCTGTCATTTGGGATCTG	0.373000													22	49					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839057	83839057	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83839057A>G	ENST00000302236.5	+	5	1743	c.1692A>G	c.(1690-1692)caA>caG	p.Q564Q	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	564							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCAATAATCAAATAATTAAAG	0.348000													21	29					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2191349	2191349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2191349C>T	ENST00000382203.1	+	33	4887	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*	SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R248*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1542*|SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R224*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1560*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1542*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1560					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGGCCAAATCGAGGAAAAGC	0.458000													31	48					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413705	105413705	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105413705C>T	ENST00000333244.5	-	7	8202	c.8083G>A	c.(8083-8085)Gac>Aac	p.D2695N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2695						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)			ATGCTGATGTCAGTGGTCTTA	0.627000													12	281					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933963	44933963	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44933963T>C	ENST00000291187.4	-	6	1297	c.975A>G	c.(973-975)agA>agG	p.R325R	ZNF229_ENST00000588931.1_Silent_p.R331R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCGTGTTCTGTCTGACGCCCC	0.507000													5	64					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705776	40705776	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40705776C>A	ENST00000372771.4	+	8	5429	c.5402C>A	c.(5401-5403)tCt>tAt	p.S1801Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1801					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTAAGTAATTCTTCACAGTCC	0.358000													39	48					4.92203e-23	6.86763e-23	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34003475	34003475	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34003475A>C	ENST00000382491.3	-	28	4535	c.4411T>G	c.(4411-4413)Ttg>Gtg	p.L1471V	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1557V|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1518V	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1518	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCATCATTCAATGTCAGGTTG	0.493000													16	72					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731697	50731697	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50731697G>T	ENST00000442544.2	+	10	2301	c.1685G>T	c.(1684-1686)aGa>aTa	p.R562I	DCC_ENST00000581580.1_Missense_Mutation_p.R217I|DCC_ENST00000412726.1_Missense_Mutation_p.R410I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	562	Fibronectin type-III 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)		CAAGGTTACAGATTGTTCTGC	0.488000													71	111					3.58576e-35	5.15276e-35	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84302200	84302200	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84302200G>T	ENST00000428679.2	-	21	2497	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	SNAP91_ENST00000521743.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S635Y|SNAP91_ENST00000439399.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000369694.2_Missense_Mutation_p.S635Y			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	635					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GACACCTGAAGAATCCACCTT	0.423000													6	13					2.7689e-08	3.25926e-08	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814421	123814421	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123814421T>G	ENST00000321252.2	-	1	159	c.125A>C	c.(124-126)aAg>aCg	p.K42T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	42					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)		AATTAGCAGCTTGCCTGTGGC	0.488000													9	135					0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27716803	27716803	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27716803T>G	ENST00000264703.3	-	4	839	c.448A>C	c.(448-450)Agc>Cgc	p.S150R		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	150						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCACCTGGGCTTGAACTGTTT	0.562000													23	54					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33796962	33796962	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33796962C>T	ENST00000257118.5	-	11	2043	c.1990G>A	c.(1990-1992)Gct>Act	p.A664T	PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	664					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTGCACAAGCCATGGAACAG	0.547000													33	85					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65418735	65418735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:65418735G>T	ENST00000519389.1	+	11	2070	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	HEPH_ENST00000374727.3_Nonsense_Mutation_p.E580*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.E310*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E580*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.E577*|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	577	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGTGGATAAAGAATTCTTTCT	0.438000													5	92					0.00116845	0.00122532	1	1	0
AFF2	2334	broad.mit.edu	37	X	147924957	147924957	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147924957C>A	ENST00000370460.2	+	7	1741	c.1262_splice	c.e7+1	p.S421_splice	AFF2_ENST00000342251.3_Splice_Site_p.S388_splice|AFF2_ENST00000370457.5_Splice_Site_p.S388_splice|AFF2_ENST00000286437.5_Splice_Site_p.S62_splice|AFF2_ENST00000370458.1_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	421					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTCAAATCGTGAGTAGTT	0.408000													24	43					2.21704e-12	2.79328e-12	1	1	0
CIT	11113	broad.mit.edu	37	12	120195211	120195211	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120195211C>A	ENST00000392521.2	-	22	2725	c.2670G>T	c.(2668-2670)aaG>aaT	p.K890N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K848N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	848					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCAGCCGATTCTTGTCACTGT	0.547000													6	374					0.0215528	0.0219788	1	1	0
MYPN	84665	broad.mit.edu	37	10	69935124	69935124	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69935124C>T	ENST00000358913.5	+	12	3097	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	MYPN_ENST00000354393.2_Missense_Mutation_p.P595L|MYPN_ENST00000540630.1_Missense_Mutation_p.P870L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	870						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						TCTCCTCAACCAGTGAATGAT	0.423000													14	32					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329275	56329275	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56329275C>T	ENST00000443188.1	-	4	976	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NLRP11_ENST00000589093.1_Missense_Mutation_p.R89Q|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R89Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.R89Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	89	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCACGGTTTCGTCTGCCAAT	0.418000													27	39					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43501728	43501728	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43501728A>G	ENST00000265351.7	-	21	2569	c.2359T>C	c.(2359-2361)Tat>Cat	p.Y787H		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	787					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTGGTGCATATAATGTATTG	0.403000													23	51					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96192338	96192338	+	Missense_Mutation	SNP	G	G	A	rs41300144		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:96192338G>A	ENST00000324765.8	+	11	1543	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	399	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.R399Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATGACATTCGAGCAGAAATG	0.338000													9	28					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113590973	113590973	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113590973G>T	ENST00000263341.2	-	4	489	c.279C>A	c.(277-279)ttC>ttA	p.F93L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	93					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TGAAGGGAAAGAAGGTGCTCA	0.532000													36	51					2.09667e-21	2.89385e-21	1	1	0
GALNT9	50614	broad.mit.edu	37	12	132688051	132688051	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132688051G>A	ENST00000328957.8	-	7	1261	c.1263_splice	c.e7+1	p.S421_splice	GALNT9_ENST00000535228.1_Splice_Site_p.S172_splice|GALNT9_ENST00000541995.1_Splice_Site_p.S55_splice|GALNT9_ENST00000397325.2_Splice_Site_p.S55_splice	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	421					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S421L(1)|p.S55L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGGACTCACCGACATGGGGAT	0.682000													21	26					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425735	57425735	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57425735A>G	ENST00000543257.1	-	3	617	c.51T>C	c.(49-51)agT>agC	p.S17S	C8B_ENST00000371237.4_Silent_p.S69S|C8B_ENST00000494324.1_Intron|C8B_ENST00000535057.1_5'UTR	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	69					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.S69R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAGAGGACCAACTAGACAGCT	0.507000													17	46					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940624	22940624	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22940624T>G	ENST00000397104.3	-	5	1813	c.1814A>C	c.(1813-1815)aAg>aCg	p.K605T	ZNF99_ENST00000596209.1_Missense_Mutation_p.K696T					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)				ATGAATTATCTTATGTTTCCT	0.363000													27	50					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39441500	39441500	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39441500C>T	ENST00000308521.5	+	4	876	c.519C>T	c.(517-519)ttC>ttT	p.F173F	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	178					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.507000													85	164					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582569	24582569	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24582569C>A	ENST00000319715.4	+	18	4614	c.4182C>A	c.(4180-4182)aaC>aaA	p.N1394K	RBBP6_ENST00000348022.2_Missense_Mutation_p.N1360K|RBBP6_ENST00000381039.3_Missense_Mutation_p.N554K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1394					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCAAAAAACTCTGCATCTA	0.398000													21	25					6.44725e-10	7.85205e-10	1	1	0
ADH6	130	broad.mit.edu	37	4	100129875	100129875	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100129875C>T	ENST00000394897.1	-	6	860	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ADH6_ENST00000394899.2_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.D51N|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	260					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATACCAGCATCTGTCATATCA	0.408000													81	186					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594765	48594765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48594765G>A	ENST00000262384.3	-	2	2025	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	597					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGAGTATCTCGAAACCTTTGA	0.428000													41	72					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538315	82538315	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82538315G>A	ENST00000423517.2	-	8	13652	c.13315C>T	c.(13315-13317)Cgt>Tgt	p.R4439C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4439C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4370	PDZ.				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						GTTTCCTCACGACGCAGATGA	0.458000													13	23					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324748	79324748	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79324748A>C	ENST00000428286.1	-	8	2565	c.1365T>G	c.(1363-1365)aaT>aaG	p.N455K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.N814K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	814					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATTCCAGGTATTTTTTAAAG	0.478000													10	23					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26109077	26109077	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26109077C>A	ENST00000313735.6	-	7	919	c.686G>T	c.(685-687)aGa>aTa	p.R229I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	229					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGCACGTGTCTGCAGATGTG	0.542000													5	39					1.23904e-05	1.36503e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179466399	179466399	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179466399C>T	ENST00000589042.1	-	286	55642	c.55418G>A	c.(55417-55419)aGa>aAa	p.R18473K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9600K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9533K|TTN_ENST00000342992.6_Missense_Mutation_p.R15905K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9408K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16832K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16832	Ig-like 106.						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)			GACTTTAACTCTGCAATTTGC	0.333000													19	46					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528236	121528236	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121528236G>A	ENST00000305949.1	+	18	2096	c.2051G>A	c.(2050-2052)cGt>cAt	p.R684H		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	684	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTCTTATTCGTTATGAAACT	0.408000													20	44					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142186774	142186774	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142186774G>A	ENST00000519811.1	+	15	2690	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	DENND3_ENST00000424248.1_Missense_Mutation_p.E742K|DENND3_ENST00000262585.2_Missense_Mutation_p.E794K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	794										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAGTCTTCGAAGCCAACCT	0.512000													30	54					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545599	151545599	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151545599T>C	ENST00000232892.6	+	5	965	c.839T>C	c.(838-840)tTt>tCt	p.F280S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	280					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTCTTCAAATTTGTTAATTGG	0.383000													5	60					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236792005	236792005	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:236792005G>A	ENST00000409538.1	+	10	2358	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R356Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	356	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R356Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGTTGAAGCGAAGTGGCAAA	0.388000													17	31					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71358707	71358707	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71358707G>A	ENST00000373677.1	+	2	1473	c.211G>A	c.(211-213)Gag>Aag	p.E71K	NHSL2_ENST00000510661.1_Missense_Mutation_p.E206K|NHSL2_ENST00000535692.1_Missense_Mutation_p.E71K|NHSL2_ENST00000540800.1_Missense_Mutation_p.E437K			F5H593	F5H593_HUMAN	NHS-like 2	437										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGTTCCTAAGGAGGCTGCTAC	0.522000													14	28					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621315	112621315	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112621315C>T	ENST00000341068.3	-	9	1761	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGAGGTTGAGCGACTCTGGCT	0.473000													26	45					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29253886	29253886	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29253886C>T	ENST00000330889.3	+	3	602	c.267C>T	c.(265-267)ttC>ttT	p.F89F	ADAP2_ENST00000580525.1_Silent_p.F95F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	89	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)|p.F89F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGCCAAGTTCGAAGCCAGAG	0.488000													19	43					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49963000	49963000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:49963000C>T	ENST00000293350.4	+	4	557	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R132*|ALDH16A1_ENST00000433981.2_5'UTR|ALDH16A1_ENST00000540132.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	132							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)		GCGGGCTGTTCGAGAGGTTCG	0.642000													25	47					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19725022	19725022	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19725022C>T	ENST00000397821.3	-	4	657	c.367G>A	c.(367-369)Gac>Aac	p.D123N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D123N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D86N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	123	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCTATGATGTCGCCAACTTTC	0.572000													17	40					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190554573	190554573	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190554573G>T	ENST00000520309.1	+	3	1010	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	ANKAR_ENST00000438402.2_Missense_Mutation_p.D308Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.D308Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.D72Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.D237Y|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	308						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAAGAAAAAAGATATCAGAAG	0.284000													23	42					3.5997e-14	4.67138e-14	1	1	0
PLEK	5341	broad.mit.edu	37	2	68613778	68613778	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68613778A>G	ENST00000234313.7	+	5	796	c.617A>G	c.(616-618)gAa>gGa	p.E206G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	206	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAACTGCTGAAAACCCTTTC	0.507000													34	64					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99294911	99294911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99294911C>A	ENST00000393487.1	-	3	431	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	MGAT4A_ENST00000264968.2_Nonsense_Mutation_p.E40*|MGAT4A_ENST00000409391.1_Nonsense_Mutation_p.E40*	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338000													15	24					1.05317e-09	1.27574e-09	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111641	55111641	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55111641C>A	ENST00000314721.2	+	1	1015	c.965C>A	c.(964-966)tCt>tAt	p.S322Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATTCCTAGTTCTAAGGCAACA	0.338000													6	13					3.59834e-05	3.93264e-05	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89449102	89449102	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89449102C>A	ENST00000399794.2	-	3	1123	c.408G>T	c.(406-408)atG>atT	p.M136I	RBMXL1_ENST00000321792.5_Missense_Mutation_p.M136I|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	136							nucleotide binding|RNA binding										TGTTAAAATTCATGGAATATC	0.517000													45	85					1.41504e-22	1.969e-22	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163374665	163374665	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163374665T>G	ENST00000332142.5	-	4	566	c.467A>C	c.(466-468)aAa>aCa	p.K156T	KCNH7_ENST00000328032.4_Missense_Mutation_p.K156T|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	156					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)	CCCAAAAAATTTCCCTATAAA	0.368000													15	26					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011779	37011779	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:37011779T>G	ENST00000418263.1	+	3	658	c.308T>G	c.(307-309)aTc>aGc	p.I103S	CCNA1_ENST00000440264.1_Missense_Mutation_p.I60S|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000255465.4_Missense_Mutation_p.I104S|CCNA1_ENST00000449823.1_Missense_Mutation_p.I60S	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	104					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATCACAAGAATCAGGTGTTAT	0.483000													34	71					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485733	11485733	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:11485733C>T	ENST00000423059.3	-	13	3270	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1007	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATTTTGATCGTAGCATGCC	0.423000										HNSCC(18;0.044)			59	111					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71174492	71174492	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:71174492G>A	ENST00000319023.2	+	4	466	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	93	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTAATGCACCGAAACGTCCGC	0.602000													7	36					0	0	1	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27538790	27538790	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27538790A>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGGTTTGAATGTTCCGGAG	0.502000													66	88					0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122364544	122364544	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122364544C>T	ENST00000306442.4	-	3	366	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	84	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AAACTTGCTTCCTTTATATCC	0.393000													12	26					0	0	1	0	0
GRM8	0	broad.mit.edu	37	7	126544109	126544109	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126544109C>A	ENST00000339582.2	-	5	1743	c.935G>T	c.(934-936)gGa>gTa	p.G312V	GRM8_ENST00000358373.3_Missense_Mutation_p.G312V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G312V|GRM8_ENST00000405249.1_Missense_Mutation_p.G312V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	312					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TATTTTGGATCCCCAACTATC	0.403000										HNSCC(24;0.065)			19	44					8.34094e-07	9.42356e-07	1	1	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390591	52390591	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52390591C>T	ENST00000443374.1	+	0	1284																											AAAGCACTTTCTGTTACCTCT	0.408000													11	33					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043300	74043300	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74043300C>A	ENST00000409561.1	+	3	2071	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512000													19	61					1.15919e-05	1.28007e-05	1	1	0
ZBTB32	27033	broad.mit.edu	37	19	36205547	36205547	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36205547A>C	ENST00000392197.2	+	3	337	c.19A>C	c.(19-21)Aga>Cga	p.R7R	ZBTB32_ENST00000262630.3_Silent_p.R7R			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	7					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCCCCATAAGACTGCCCAG	0.582000													66	148					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128821490	128821490	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128821490A>C	ENST00000280333.6	+	14	1400	c.1291A>C	c.(1291-1293)Aca>Cca	p.T431P	RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	431	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TATCTATGTAACATTAGTTCA	0.378000													57	82					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652731	115652731	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115652731G>T	ENST00000374228.4	-	1	462	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	77						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGATAATGTAGAAATTGGAGA	0.607000													10	120					1.76689e-08	2.08373e-08	1	1	0
KIAA0754	643314	broad.mit.edu	37	1	39878370	39878370	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39878370G>T	ENST00000530275.1	+	1	2220	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	675										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTTCCAGAGAAACAAGTTA	0.453000													6	38					0.0215528	0.0219788	1	1	0
DAAM1	23002	broad.mit.edu	37	14	59792754	59792754	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59792754C>T	ENST00000395125.1	+	9	1156	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	DAAM1_ENST00000360909.3_Missense_Mutation_p.P378L|DAAM1_ENST00000351081.1_Missense_Mutation_p.P378L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	378	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)		GAAGCTTACCCGCATTTCATG	0.443000													7	50					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904272	5904272	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5904272A>C	ENST00000378961.4	+	4	1686	c.1482A>C	c.(1480-1482)gaA>gaC	p.E494D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	494						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						ACACTAAAGAAAACAGGGAGG	0.488000													34	50					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968336	38968336	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38968336C>T	ENST00000302328.3	-	4	773	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R192Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R192Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R192Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	192					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCATGGATCTCGAAGGAAAGA	0.378000													56	78					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27620866	27620866	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27620866T>G	ENST00000225388.4	-	1	270	c.212A>C	c.(211-213)aAg>aCg	p.K71T	NUFIP2_ENST00000579665.1_Missense_Mutation_p.K71T	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	71						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTTCAGCGGCTTTGGCTGGGC	0.597000													9	201					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43047473	43047473	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:43047473G>T	ENST00000458501.2	+	13	1361	c.1361G>T	c.(1360-1362)gGa>gTa	p.G454V	HGSNAT_ENST00000379644.4_Missense_Mutation_p.G426V|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G143V|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G158V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	454					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGGGCATTGGAGATTTTGGC	0.483000													3	16					0.115264	0.116507	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207170663G>T	ENST00000374423.3	+	5	1797	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	471							nucleic acid binding|zinc ion binding	p.E471*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333000													9	23					0.000274275	0.000292037	1	1	0
SERPINC1	462	broad.mit.edu	37	1	173881126	173881126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173881126C>A	ENST00000367698.3	-	3	553	c.435G>T	c.(433-435)gaG>gaT	p.E145D	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	145					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CAGATGTTTTCTCAGATATGG	0.428000													31	48					9.65021e-13	1.22324e-12	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105158249	105158249	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105158249T>G	ENST00000369797.3	+	2	160	c.66T>G	c.(64-66)gcT>gcG	p.A22A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	22					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGAGAAAGCTTTCCAGCAGT	0.403000													30	57					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114864560	114864560	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114864560C>A	ENST00000374270.3	-	9	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	SUSD1_ENST00000374264.2_Missense_Mutation_p.D393Y|SUSD1_ENST00000374263.3_Missense_Mutation_p.D393Y	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	393						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAAGAGATCAACTTCTAAA	0.358000													7	14					0.00198382	0.00207034	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186535983	186535983	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186535983A>G	ENST00000431808.1	-	18	3447		c.e18+1		SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000284776.7_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2							actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGCTGGGCTACCTTTCTCAG	0.418000													15	34					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88465107	88465107	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88465107C>A	ENST00000552810.1	-	43	6318	c.5975G>T	c.(5974-5976)aGa>aTa	p.R1992I	CEP290_ENST00000547691.2_Missense_Mutation_p.R1052I|CEP290_ENST00000397838.3_Missense_Mutation_p.R1052I|CEP290_ENST00000309041.7_Missense_Mutation_p.R1994I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1992					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCAAGATTTCTCTTTTTTAA	0.348000													13	18					0.000151284	0.00016287	1	1	0
MAP7	9053	broad.mit.edu	37	6	136667149	136667149	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136667149A>C	ENST00000354570.3	-	17	2494	c.2084T>G	c.(2083-2085)aTt>aGt	p.I695S	MAP7_ENST00000438100.2_Missense_Mutation_p.I680S|MAP7_ENST00000454590.1_Missense_Mutation_p.I717S|MAP7_ENST00000432797.2_Missense_Mutation_p.I549S|MAP7_ENST00000544465.1_Missense_Mutation_p.I680S	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	695					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)		TAAGTTTATAATTTCTTCAAA	0.323000													13	20					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193049090	193049090	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193049090T>G	ENST00000342358.4	-	12	1400	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	428					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CACAGTATCTTTTGGAGGAAC	0.542000													15	23					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197099114	197099114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197099114G>A	ENST00000367409.4	-	8	2816	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	ASPM_ENST00000367408.1_Missense_Mutation_p.R104C|ASPM_ENST00000294732.7_Missense_Mutation_p.R854C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAAGTAGGCGATTCAGAATA	0.403000													32	51					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107595031	107595031	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107595031T>C	ENST00000374736.3	-	12	1727	c.1333A>G	c.(1333-1335)Aat>Gat	p.N445D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	445					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGTGGTCATTGTCCCTGCTG	0.453000													19	50					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910743	4910743	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910743G>T	ENST00000396658.4	+	6	1453	c.750G>T	c.(748-750)aaG>aaT	p.K250N	UBN1_ENST00000590769.1_Missense_Mutation_p.K250N|UBN1_ENST00000262376.6_Missense_Mutation_p.K250N|UBN1_ENST00000545171.1_Missense_Mutation_p.K250N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	250	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGATGCTAAAGAAATTTCAGA	0.488000													40	84					1.66425e-11	2.0722e-11	1	1	0
EBF2	64641	broad.mit.edu	37	8	25897597	25897597	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:25897597C>A	ENST00000520164.1	-	5	966	c.429G>T	c.(427-429)caG>caT	p.Q143H	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	143					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GATTCTTATTCTGTCCCTCGT	0.557000													5	166					1	1	1	1	0
ZNF280A	129025	broad.mit.edu	37	22	22869151	22869151	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869151C>A	ENST00000302097.3	-	2	1056	c.804G>T	c.(802-804)aaG>aaT	p.K268N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATTTTCTTTCTTGGGATCAA	0.428000													26	51					3.73808e-20	5.11168e-20	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113374248	113374248	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113374248C>T	ENST00000316407.4	-	7	6691	c.6281G>A	c.(6280-6282)cGa>cAa	p.R2094Q	KIAA2018_ENST00000478658.1_Missense_Mutation_p.R2094Q|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2094					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						GGCTGGAGTTCGAGTGGCACT	0.443000													21	50					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26431307	26431307	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26431307C>A	ENST00000466808.2	+	0	1447																											TAAGTGGATTCTCTCTCTGGA	0.512000													48	21					3.39706e-21	4.68637e-21	1	1	0
UGT1A5	0	broad.mit.edu	37	2	234621645	234621645	+	Missense_Mutation	SNP	C	C	G	rs150697955		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234621645C>G	ENST00000373414.3	+	1	8	c.8C>G	c.(7-9)aCa>aGa	p.T3R	UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GAGATGGCCACAGGACTCCAG	0.587000													29	56					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010898	108010898	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108010898C>T	ENST00000280758.5	+	8	2562	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.G215G|BTBD11_ENST00000490090.2_Silent_p.G678G|BTBD11_ENST00000420571.2_Silent_p.G678G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	678						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGTGGAAGGCTCAGTGGAGC	0.592000													33	57					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158605732C>A	ENST00000368148.3	-	38	5583	c.5403G>T	c.(5401-5403)tgG>tgT	p.W1801C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1801C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1801					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522000													42	88					1.59361e-14	2.07668e-14	1	1	0
LRRC8B	23507	broad.mit.edu	37	1	90048689	90048689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:90048689C>T	ENST00000330947.2	+	5	840	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LRRC8B_ENST00000358200.4_Silent_p.F160F|LRRC8B_ENST00000439853.1_Silent_p.F160F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	160						integral to membrane		p.F160F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ACAAGTGCTTCGATTCTCCAT	0.527000													44	76					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78734966	78734966	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78734966C>T	ENST00000334082.6	-	5	1836	c.394G>A	c.(394-396)Gca>Aca	p.A132T	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A132T|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	132					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCCCCGCCTGCGGATTCCTTT	0.418000													7	50					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126678217	126678217	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126678217A>G	ENST00000309035.6	-	9	2958	c.2828T>C	c.(2827-2829)aTg>aCg	p.M943T	CTBP2_ENST00000411419.2_Missense_Mutation_p.M403T|CTBP2_ENST00000531469.1_Missense_Mutation_p.M403T|CTBP2_ENST00000337195.5_Missense_Mutation_p.M403T|CTBP2_ENST00000494626.2_Missense_Mutation_p.M403T|CTBP2_ENST00000334808.6_Missense_Mutation_p.M471T	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	403					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GATCCCTTCCATGGCTGCAGG	0.577000													10	44					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35079490	35079490	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35079490C>T	ENST00000378643.3	-	1	523	c.32G>A	c.(31-33)aGc>aAc	p.S11N		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	11					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCCAGGCAGCTGGAGCCCAC	0.627000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					28	52					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117024855	117024855	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117024855A>G	ENST00000284629.2	-	6	674	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	204					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TATTAGCTCCAAGTTCAAGCA	0.368000													22	46					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969124	37969124	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:37969124C>A	ENST00000327441.7	+	13	1509	c.1043C>A	c.(1042-1044)tCt>tAt	p.S348Y	MIPOL1_ENST00000556451.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S317Y|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S348Y|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S167Y|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S348Y	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	348										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TTACACAAATCTTTATCTCAA	0.274000													12	23					0.0809354	0.0819999	1	1	0
OR4N2	390429	broad.mit.edu	37	14	20295871	20295871	+	Silent	SNP	G	G	A	rs144051874	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20295871G>A	ENST00000568211.1	+	1	264	c.264G>A	c.(262-264)gcG>gcA	p.A88A	OR4N2_ENST00000315947.1_Silent_p.A88A			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTCTGCGAAGAAGATAA	0.517000													56	289					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955448	55955448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55955448C>A	ENST00000373965.2	-	11	1694	c.1300G>T	c.(1300-1302)Gaa>Taa	p.E434*	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E439*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E38*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E412*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E412*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E397*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	434	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACATCTTCTATGTCCTTG	0.373000										HNSCC(58;0.16)			9	39					7.48243e-07	8.49459e-07	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81741356	81741356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81741356G>A	ENST00000550584.2	-	17	2483	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R577*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R297*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R631*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R656*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	656										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCAGGGCTTCGAGGGGTGAGC	0.522000													40	86					0	0	1	0	0
INTS6-AS1	0	broad.mit.edu	37	13	52035186	52035186	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52035186C>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000597745.1_RNA																							TCATCAAATTCGACACTGGTC	0.458000													5	21					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961057	17961057	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17961057G>T	ENST00000361221.3	+	17	1904	c.1745_splice	c.e17+1	p.R582_splice	ARHGEF10L_ENST00000375420.3_Splice_Site_p.R340_splice|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375415.1_Splice_Site_p.R543_splice|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000452522.1_Splice_Site_p.R543_splice|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Intron	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	582					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCAACCACAGGTACGTGGTT	0.622000													9	100					0.00448238	0.00465112	1	1	0
COG7	91949	broad.mit.edu	37	16	23415025	23415025	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23415025G>A	ENST00000307149.5	-	13	1978	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	598					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTCCATCTTCGAAATAAGCAA	0.537000													23	37					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381328	68381328	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:68381328T>C	ENST00000361478.1	-	2	2131	c.1754A>G	c.(1753-1755)gAt>gGt	p.D585G	PJA1_ENST00000374571.4_Missense_Mutation_p.D530G|PJA1_ENST00000374583.1_Missense_Mutation_p.D585G|PJA1_ENST00000374584.3_Missense_Mutation_p.D397G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	585							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCGCCATGATCTTCAGTGAC	0.562000													36	57					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135570694	135570694	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135570694C>A	ENST00000370648.3	+	1	649	c.421C>A	c.(421-423)Ctc>Atc	p.L141I		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	141					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTAACAATTCTCAGCGCTGA	0.428000													27	50					6.32553e-13	8.04352e-13	1	1	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971111	31971111	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31971111C>T	ENST00000334897.3	-	1	108	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	28						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCGCAGGCTTCCATAGCCATA	0.572000													36	64					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48121866	48121866	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48121866C>T	ENST00000311303.3	-	25	3951	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1202	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGACAGGATCCTGTGGGATCA	0.438000													10	41					0	0	1	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													3	11					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117417761	117417761	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117417761A>C	ENST00000160373.3	-	8	2673	c.2582T>G	c.(2581-2583)cTt>cGt	p.L861R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	861										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTACATAAGAAGCTTGAGGCT	0.458000													22	43					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47204175	47204175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47204175C>T	ENST00000433867.1	-	8	1479	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	PRKD2_ENST00000291281.4_Silent_p.E334E|PRKD2_ENST00000601806.1_Silent_p.E177E|PRKD2_ENST00000600194.1_Silent_p.E177E|PRKD2_ENST00000595515.1_Silent_p.E334E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	334					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCTTGTCAGCCTCGCTGAAAT	0.627000													4	42					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404618	91404618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91404618C>A	ENST00000370440.1	-	3	2510	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E765*|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACTAGCTTCTTCTTTTTTG	0.343000													24	41					1.36565e-18	1.85171e-18	1	1	0
SNRK	54861	broad.mit.edu	37	3	43344729	43344729	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:43344729A>C	ENST00000296088.7	+	3	338	c.34A>C	c.(34-36)Att>Ctt	p.I12L	SNRK_ENST00000454177.1_Missense_Mutation_p.I12L|SNRK_ENST00000429705.2_Missense_Mutation_p.I12L|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	12					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGATGGAAAGATTGCTGGATT	0.398000													9	63					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105586436	105586436	+	Splice_Site	SNP	C	C	T	rs55944080		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:105586436C>T	ENST00000264122.4	-	2	308		c.e2-1		CBLB_ENST00000405772.1_Splice_Site|CBLB_ENST00000403724.1_Splice_Site|CBLB_ENST00000394027.3_Splice_Site|CBLB_ENST00000545639.1_Splice_Site	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase						cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATTTTAGTTCTTTAAAAGGC	0.373000			Mis S		AML								11	27					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28948597	28948597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:28948597G>T	ENST00000538922.1	+	9	1266	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	CD19_ENST00000324662.3_Nonsense_Mutation_p.E402*|CD19_ENST00000567541.1_Nonsense_Mutation_p.E402*	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	402					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCAGGCCCAGAAGAAGAGGA	0.622000													3	18					0.00909568	0.00935351	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603706	13603706	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13603706G>A	ENST00000040738.5	-	10	4953	c.4818C>T	c.(4816-4818)ttC>ttT	p.F1606F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1606							DNA binding										TGCTTGTGAGGAAGGTTTCAC	0.502000													21	41					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347382	91347382	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91347382T>G	ENST00000358859.2	-	1	1571	c.1138A>C	c.(1138-1140)Agc>Cgc	p.S380R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		AAAGTGCAGCTTATAAAGTTC	0.433000													40	51					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22658450	22658450	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22658450C>A	ENST00000426066.1	+	0	217					NR_027293.1																						TTTTGATGATCTTAAAGGAGA	0.383000													21	39					2.50493e-22	3.48041e-22	1	1	0
CHN1	1123	broad.mit.edu	37	2	175664856	175664856	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175664856G>T	ENST00000409900.3	-	13	1681	c.1368C>A	c.(1366-1368)gaC>gaA	p.D456E	CHN1_ENST00000409597.1_Missense_Mutation_p.D272E|CHN1_ENST00000295497.7_Missense_Mutation_p.D331E|CHN1_ENST00000409156.3_Missense_Mutation_p.D430E|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	456	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			aaaataaaatGTCTTCGTTTT	0.358000			T	TAF15	extraskeletal myxoid chondrosarcoma								5	14					0.0215528	0.0219788	1	1	0
SEPHS1	22929	broad.mit.edu	37	10	13375827	13375827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:13375827C>A	ENST00000327347.5	-	5	925	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E117*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E184*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	184					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						ATGATAAATTCATTGGGTTGG	0.438000													18	19					1.33834e-09	1.61283e-09	1	1	0
PROS1	5627	broad.mit.edu	37	3	93605179	93605179	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93605179C>T	ENST00000394236.3	-	11	1640		c.e11+1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGGATCATTACCGGTTTAATG	0.373000													12	40					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211847747	211847747	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:211847747G>A	ENST00000366999.4	-	2	343	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	NEK2_ENST00000366998.3_Missense_Mutation_p.R69C|NEK2_ENST00000540251.1_Missense_Mutation_p.R26C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	69	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCATAGTAACGAACGATGTTT	0.403000													12	21					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1460715	1460715	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1460715G>A	ENST00000331035.4	+	2	406	c.57G>A	c.(55-57)acG>acA	p.T19T	IL3RA_ENST00000381469.2_Silent_p.T19T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	19						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCCTGCAAACGAAGGAAGGTA	0.587000													39	113					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10104055	10104055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10104055C>T	ENST00000324907.9	+	6	923	c.787C>T	c.(787-789)Cga>Tga	p.R263*	GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R74*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R263*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	263					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AAAATCACTTCGACAGAAGCC	0.438000													11	31					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127668792	127668792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127668792G>T	ENST00000368695.1	+	2	180	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	FANK1_ENST00000449042.2_Nonsense_Mutation_p.E20*|FANK1_ENST00000368689.1_Nonsense_Mutation_p.E20*|FANK1_ENST00000368693.1_Nonsense_Mutation_p.E26*	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	26	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCACAGCATTGAATTATACTG	0.453000													19	41					3.99206e-14	5.17458e-14	1	1	0
CDH8	1006	broad.mit.edu	37	16	61858924	61858924	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:61858924A>G	ENST00000577390.1	-	5	1781	c.827T>C	c.(826-828)tTt>tCt	p.F276S	CDH8_ENST00000577730.1_Missense_Mutation_p.F276S|CDH8_ENST00000584337.1_Missense_Mutation_p.F276S|CDH8_ENST00000299345.6_Missense_Mutation_p.F276S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	276	Cadherin 2.				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)		ACTCTGTGCAAATTTTGGAGG	0.373000													14	28					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173794441	173794441	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173794441T>C	ENST00000361951.4	+	1	801	c.74T>C	c.(73-75)aTc>aCc	p.I25T	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	25					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ACCCAACCGATCTGGGGTTCT	0.473000													19	51					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3031488	3031488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3031488C>T	ENST00000448120.2	+	4	365	c.314C>T	c.(313-315)tCc>tTc	p.S105F	TULP3_ENST00000397132.2_Missense_Mutation_p.S105F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	105					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCAGTAAGCTCCTCTGTTGTG	0.443000													33	59					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277715	238277715	+	Missense_Mutation	SNP	C	C	T	rs138676768		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238277715C>T	ENST00000295550.4	-	10	4843	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1258Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1263Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R857Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1264Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1258Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1464	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGAGTCTTCGAACAATCCT	0.478000													7	30					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119316770	119316770	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119316770G>T	ENST00000273371.4	+	1	82	c.10G>T	c.(10-12)Ggt>Tgt	p.G4C	PLA1A_ENST00000495992.1_Missense_Mutation_p.G4C|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	4					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGCCCCCAGGTCCCTGGGA	0.542000													4	14					0.00024832	0.000265255	1	1	0
USP24	23358	broad.mit.edu	37	1	55567292	55567292	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567292A>G	ENST00000294383.6	-	43	5109	c.5110T>C	c.(5110-5112)Ttc>Ctc	p.F1704L	USP24_ENST00000407756.1_Missense_Mutation_p.F1544L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1704					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGCTGCTGGAAGACTGCATTC	0.443000													4	17					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238669	3238669	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3238669T>G	ENST00000217939.6	-	5	5211	c.5057A>C	c.(5056-5058)aAg>aCg	p.K1686T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1686						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCAGTAAACTTACTAGGAAT	0.438000													82	141					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219701	67219701	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67219701G>A	ENST00000312457.2	-	1	499	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	165						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGACCAGCCAGGGCACGCTGA	0.677000													14	96					0	0	1	0	0
CYP11B1	0	broad.mit.edu	37	8	143957711	143957711	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143957711C>T	ENST00000292427.4	-	5	932	c.900G>A	c.(898-900)tcG>tcA	p.S300S	CYP11B1_ENST00000377675.3_Silent_p.S371S|CYP11B1_ENST00000517471.1_Silent_p.S300S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	300					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGGCATCTGGCGACAGTTCCG	0.582000									Familial Hyperaldosteronism type I				12	35					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168871	55168871	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55168871C>T	ENST00000251091.5	+	2	593	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SAMD4A_ENST00000554335.1_Silent_p.D96D|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.D95D|SAMD4A_ENST00000392067.3_Silent_p.D96D	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	96					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAACCTCGACGCGAAAGTAG	0.458000													23	45					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994413	144994413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144994413G>T	ENST00000322810.4	-	32	10156	c.9987C>A	c.(9985-9987)taC>taA	p.Y3329*	PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y3170*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y3196*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y3219*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y3215*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y3178*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y3160*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y3192*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3329	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGCTCGCCGTAGGTGGCCG	0.706000													8	17					0.000274275	0.000292037	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100934521	100934521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100934521C>T	ENST00000548884.1	+	9	1532	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C|NR1H4_ENST00000551379.1_Missense_Mutation_p.R345C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	345	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGTTCCTTCGTTCAGCTGA	0.388000													36	49					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139144	101139144	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139144C>A	ENST00000372782.3	-	7	1302	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	ZMAT1_ENST00000458570.1_Missense_Mutation_p.D248Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.D419Y	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	248						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ACAGAGCTATCTCCTATCTTT	0.403000													17	210					2.48551e-13	3.17925e-13	1	1	0
PCDHA9	0	broad.mit.edu	37	5	140230511	140230511	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140230511T>C	ENST00000378122.3	+	1	3155	c.2431T>C	c.(2431-2433)Ttt>Ctt	p.F811L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	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)			ttatataattttttttCTTGA	0.353000													46	64					0	0	1	0	0
TRBV4-1	0	broad.mit.edu	37	7	142013066	142013066	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142013066C>A	ENST00000390357.3	+	0	60																											CTGTGCGGTTCTCTGTCTCCT	0.592000													21	37					1.96292e-10	2.40731e-10	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21646328	21646328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21646328A>C	ENST00000328843.6	+	20	3860	c.3829A>C	c.(3829-3831)Aat>Cat	p.N1277H	DNAH11_ENST00000409508.3_Missense_Mutation_p.N1277H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1277	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGCAGAAAATCCATACAC	0.338000									Kartagener syndrome				4	9					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474151	44474151	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:44474151T>C	ENST00000372310.3	-	5	629	c.464A>G	c.(463-465)gAc>gGc	p.D155G	SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000360584.2_Missense_Mutation_p.D228G|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	228						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCGGCGCAGTCATGCGTGTT	0.592000													38	67					0	0	1	0	0
NME5	8382	broad.mit.edu	37	5	137454535	137454535	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137454535A>C	ENST00000265191.2	-	5	576	c.527T>G	c.(526-528)cTt>cGt	p.L176R		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	176					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGCTTACAAAGCTCTGTGAG	0.398000													8	16					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139581502	139581502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139581502C>A	ENST00000358430.3	-	6	1187	c.955G>T	c.(955-957)Gaa>Taa	p.E319*		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	319						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTCATCATTTCTTGGGCCTGC	0.408000													12	25					7.03913e-09	8.36985e-09	1	1	0
FAM183B	340286	broad.mit.edu	37	7	38725348	38725348	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38725348C>A	ENST00000409072.3	-	2	1192	c.258G>T	c.(256-258)caG>caT	p.Q86H						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GGTTTTCAGTCTGTGCCTCCG	0.547000													15	147					8.60227e-14	1.10942e-13	1	1	0
PLP1	5354	broad.mit.edu	37	X	103040584	103040584	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040584C>A	ENST00000418604.1	+	3	358	c.78C>A	c.(76-78)ttC>ttA	p.F26L	PLP1_ENST00000303958.2_Missense_Mutation_p.F26L|PLP1_ENST00000361621.2_Missense_Mutation_p.F26L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	26					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GATTGTGTTTCTTTGGGGTGG	0.502000													84	157					6.16549e-39	8.89393e-39	1	1	0
ALG13	79868	broad.mit.edu	37	X	110978304	110978304	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110978304C>A	ENST00000394780.3	+	22	2495	c.2483C>A	c.(2482-2484)tCt>tAt	p.S828Y	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.S724Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	828					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AAGTCATGTTCTATGTCTCCT	0.323000													15	28					1.15088e-07	1.32965e-07	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122460038	122460038	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460038G>A	ENST00000264357.5	+	4	962	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	GRIA3_ENST00000542149.1_Missense_Mutation_p.E224K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E224K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E208K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E224K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	224					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTGCGAAGTCGAAAGGATTAA	0.418000													12	89					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202154232	202154232	+	Nonsense_Mutation	SNP	C	C	A	rs149980324	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202154232C>A	ENST00000405148.2	-	14	1602	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*	ALS2CR12_ENST00000286190.5_Nonsense_Mutation_p.E387*|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.E364*|ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.E364*	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	387					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTATACTTTTCTTCAGTTTCA	0.418000													24	68					9.39395e-14	1.21013e-13	1	1	0
AP000349.1	0	broad.mit.edu	37	22	24124645	24124645	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24124645C>T	ENST00000598975.1	-	2	573	c.574G>A	c.(574-576)Gat>Aat	p.D192N	MMP11_ENST00000215743.3_Silent_p.I436I																							CCTCTGAGATCGACGCTGCCT	0.677000													11	21					0	0	1	0	0
PIGF	5281	broad.mit.edu	37	2	46842208	46842208	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46842208C>A	ENST00000281382.6	-	2	266	c.96G>T	c.(94-96)gaG>gaT	p.E32D	PIGF_ENST00000306465.4_Missense_Mutation_p.E32D|PIGF_ENST00000495933.1_5'UTR	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	32					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTGAGAAGTTCTCCAAGAAGA	0.343000													30	62					1.06801e-11	1.33247e-11	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18435082	18435082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:18435082G>T	ENST00000433979.1	+	2	183	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	23					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E23*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAACACCAAGAATTTCTCTT	0.388000													3	7					6.4e-05	6.95424e-05	1	1	0
FAN1	22909	broad.mit.edu	37	15	31197613	31197613	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31197613G>T	ENST00000362065.4	+	2	1038	c.747G>T	c.(745-747)gaG>gaT	p.E249D	FAN1_ENST00000561607.1_Missense_Mutation_p.E249D|FAN1_ENST00000561594.1_Missense_Mutation_p.E249D|FAN1_ENST00000565466.1_Missense_Mutation_p.E249D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	249					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGGAATGTGAGAAATCAGCCC	0.403000								Direct reversal of damage					12	45					0.010729	0.0110271	1	1	0
TMEM56	148534	broad.mit.edu	37	1	95657239	95657239	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:95657239T>C	ENST00000370203.4	+	7	898	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	203	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTATTCCGTGTATGGAACAGA	0.393000													45	73					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25152504	25152504	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25152504A>G	ENST00000332271.5	-	5	940	c.524T>C	c.(523-525)aTa>aCa	p.I175T	PIWIL3_ENST00000533313.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.I66T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	175					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCATCAAATATATGGCGCTC	0.343000													9	18					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66048662	66048662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66048662C>A	ENST00000443035.3	-	3	342	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	DENND4A_ENST00000431932.2_Nonsense_Mutation_p.E43*	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	43	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E43*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTAATAGGTTCTTTTGGTTTA	0.373000													6	15					5.9392e-07	6.75488e-07	1	1	0
GPR133	283383	broad.mit.edu	37	12	131456095	131456095	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:131456095A>G	ENST00000261654.5	+	4	839	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	GPR133_ENST00000535015.1_Missense_Mutation_p.I126V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	94					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGCTCCTGCATCAGCAAGCC	0.507000													12	26					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51285572	51285572	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51285572A>C	ENST00000261842.5	+	17	2202	c.2096A>C	c.(2095-2097)aAt>aCt	p.N699T	AP4E1_ENST00000560508.1_Missense_Mutation_p.N624T	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	699					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTTAGGACAAATAGCTTGAAG	0.388000													6	24					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51053053	51053053	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51053053C>A	ENST00000442544.2	+	28	4794	c.4178C>A	c.(4177-4179)cCt>cAt	p.P1393H	DCC_ENST00000581580.1_Missense_Mutation_p.P1026H|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1393					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)		GCAAGATCCCCTTTGCTTCCT	0.468000													34	53					7.11191e-15	9.30872e-15	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343661	248343661	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248343661C>A	ENST00000359682.2	+	1	374	c.374C>A	c.(373-375)gCt>gAt	p.A125D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGCTATATTGCTATTTGCCAC	0.393000													12	265					2.27111e-07	2.60515e-07	1	1	0
USP9X	8239	broad.mit.edu	37	X	41043781	41043781	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41043781G>A	ENST00000324545.7	+	23	4044	c.3411G>A	c.(3409-3411)ccG>ccA	p.P1137P	USP9X_ENST00000378308.2_Silent_p.P1137P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1137					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTCCTACCGAATGCAGATA	0.453000													7	39					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633909	106633909	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:106633909C>A	ENST00000378026.4	-	2	838	c.702G>T	c.(700-702)gaG>gaT	p.E234D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	234						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCGTGTTCTCCAGGGACG	0.552000													37	63					9.45814e-24	1.32461e-23	1	1	0
HECTD2	143279	broad.mit.edu	37	10	93258717	93258717	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:93258717G>A	ENST00000446394.1	+	18	1955		c.e18+1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AATAGAAAAGGTAAGTTAATA	0.274000													12	20					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246346	46246346	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:46246346A>G	ENST00000334344.6	+	15	4612	c.4440A>G	c.(4438-4440)ggA>ggG	p.G1480G	ARID2_ENST00000444670.1_Silent_p.G1090G|ARID2_ENST00000457135.1_Silent_p.G88G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.G1331G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTATACAGGGACATCAAATCA	0.448000			"""N, S, F"""		hepatocellular carcinoma								38	64					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188340	57188340	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57188340C>A	ENST00000331162.4	-	5	1052	c.782G>T	c.(781-783)aGa>aTa	p.R261I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAGTTCTCTTATGTCT	0.423000													18	21					5.01169e-05	5.45927e-05	1	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238662113	238662113	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238662113G>T	ENST00000244815.5	+	7	813	c.573G>T	c.(571-573)gaG>gaT	p.E191D	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.E215D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	215					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTACGAAGAGAAAAACAAAG	0.438000													17	60					3.32936e-07	3.80431e-07	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	141	Ig-like V-type 1.					integral to membrane		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478000													55	119					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14480092	14480092	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14480092G>A	ENST00000249923.3	-	21	3088	c.2788C>T	c.(2788-2790)Cgt>Tgt	p.R930C	COPB1_ENST00000439561.2_Missense_Mutation_p.R930C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	930					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTCTTTGCACGAATTCTTATA	0.413000													37	55					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122120867	122120867	+	Nonsense_Mutation	SNP	G	G	A	rs145127425	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:122120867G>A	ENST00000263710.4	-	37	4476	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1363	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.R1363*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCAGTGCTCGAATTGAATGC	0.468000													8	27					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92901248	92901248	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92901248C>T	ENST00000326402.4	-	7	760	c.630G>A	c.(628-630)agG>agA	p.R210R	SLC36A4_ENST00000529184.1_Silent_p.R75R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	210					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCATATATATCCTTAGGTCAA	0.348000													17	35					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522000										HNSCC(54;0.14)			28	42					0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57466419	57466419	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57466419C>T	ENST00000394391.4	-	6	851	c.610G>A	c.(610-612)Gat>Aat	p.D204N	CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D191N|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.D177N	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	204					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCTCCATATCGTTGGCTGAG	0.488000													28	60					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21982828	21982828	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:21982828C>A	ENST00000381418.4	-	5	3226	c.1746G>T	c.(1744-1746)cgG>cgT	p.R582R	HR_ENST00000312841.8_Silent_p.R582R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	582							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTCACCTTCCCGCTGGGCCC	0.687000													5	6					0.000602214	0.000636035	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140380894	140380894	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140380894A>C	ENST00000072869.4	+	4	1440	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	ADCK2_ENST00000476491.1_Missense_Mutation_p.K421T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	421	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGGACTTGAAAAGGAAGATT	0.562000													23	52					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27582659	27582659	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27582659A>C	ENST00000265395.2	-	5	751	c.545T>G	c.(544-546)tTt>tGt	p.F182C		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	182					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GGCAGCAGCAAATTCATCTTC	0.483000													9	41					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89476677	89476677	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89476677A>C	ENST00000370481.4	-	8	1492	c.1272T>G	c.(1270-1272)atT>atG	p.I424M		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	424						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTTCGAATAAATTCCCGCCT	0.413000													86	128					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50769684G>T	ENST00000433963.1	+	11	1706	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	USP8_ENST00000396444.3_Missense_Mutation_p.K402N|USP8_ENST00000425032.3_Missense_Mutation_p.K325N|USP8_ENST00000307179.4_Missense_Mutation_p.K402N	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					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)		CTAGTATAAAGAATGTTCCAC	0.373000													29	48					4.22769e-11	5.2466e-11	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	132091120	132091120	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132091120G>A	ENST00000370836.2	-	3	1078	c.663C>T	c.(661-663)ttC>ttT	p.F221F	HS6ST2_ENST00000521489.1_Silent_p.F221F|HS6ST2_ENST00000370833.2_Silent_p.F75F|HS6ST2_ENST00000370837.1_Silent_p.F75F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	221						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCTTGATGTCGAAGTCTACCT	0.637000													20	32					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2835914	2835914	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2835914G>A	ENST00000381154.1	-	5	869	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	265						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGTTGCTCCGTGACGTCATG	0.493000													19	29					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1285531	1285531	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1285531G>A	ENST00000381867.1	+	7	1092	c.450G>A	c.(448-450)gaG>gaA	p.E150E	SNPH_ENST00000381873.3_Silent_p.E106E			O15079	SNPH_HUMAN	syntaphilin	106					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGACACAGAGATTGATGACC	0.627000													29	72					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66565347	66565347	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:66565347C>T	ENST00000299697.7	-	5	661	c.437G>A	c.(436-438)cGc>cAc	p.R146H	TK2_ENST00000544898.1_Missense_Mutation_p.R55H|TK2_ENST00000417693.3_Missense_Mutation_p.R86H|TK2_ENST00000563369.2_Missense_Mutation_p.R7H|TK2_ENST00000525974.1_Missense_Mutation_p.R7H|TK2_ENST00000564917.1_Missense_Mutation_p.R104H|TK2_ENST00000527800.1_Missense_Mutation_p.R7H|TK2_ENST00000451102.2_Missense_Mutation_p.R104H|TK2_ENST00000545043.2_Missense_Mutation_p.R79H|TK2_ENST00000527284.1_Missense_Mutation_p.R73H	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	104					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		AAGACCCCAGCGAGAGGCATC	0.522000													10	52					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25661352	25661352	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:25661352C>A	ENST00000435706.2	-	23	3250		c.e23+1		TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000264331.4_Splice_Site			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa						DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TAATAAATTACCATGGAATTA	0.333000													7	11					2.0095e-06	2.25447e-06	1	1	0
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117552698A>G	ENST00000256652.4	+	2	328	c.270A>G	c.(268-270)cgA>cgG	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532000													22	28					0	0	1	0	0
TGDS	23483	broad.mit.edu	37	13	95231015	95231015	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95231015A>C	ENST00000261296.5	-	8	748	c.628T>G	c.(628-630)Ttt>Gtt	p.F210V	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	210					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAAGATATAAATTTTGGAATA	0.274000													6	53					0	0	1	0	0
DEFB126	81623	broad.mit.edu	37	20	126299	126299	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:126299C>T	ENST00000382398.3	+	2	562	c.302C>T	c.(301-303)tCg>tTg	p.S101L	DEFB126_ENST00000542572.1_3'UTR	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	101					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCGATGTCTTCGATGGCTCCT	0.453000													48	73					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806276	54806276	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54806276C>T	ENST00000306858.7	+	5	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	836	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTTCCTCATCGAATTCTCAA	0.383000													12	23					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012528	185012528	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185012528T>G	ENST00000296741.2	-	8	1266	c.1125A>C	c.(1123-1125)aaA>aaC	p.K375N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	375					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGAAGTTGGATTTGAAATCTG	0.507000													5	97					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039523	31039523	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31039523A>G	ENST00000355537.3	+	4	3144	c.2997A>G	c.(2995-2997)gcA>gcG	p.A999A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	999					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCATTGCATGGCACGGCT	0.567000													45	84					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764226	18764226	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18764226T>C	ENST00000304081.4	-	6	1029	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	NT5C1B_ENST00000359846.2_Missense_Mutation_p.Y370C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y370C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y370C	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTCATCAGGATATAGATCACG	0.463000													9	35					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154876	5154876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5154876C>A	ENST00000252321.3	+	1	1792	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	521						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ACTTCAACTACTTCTACCACC	0.627000													26	51					2.79863e-10	3.42475e-10	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701000													12	26					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680283	87680283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87680283G>A	ENST00000320005.5	-	5	654	c.607C>T	c.(607-609)Cga>Tga	p.R203*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	203			R -> Q (in ACHM3; uncertain pathogenicity; dbSNP:rs16916632).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTAATTCGCTTTAAGTAC	0.398000													45	82					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379610	204379610	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204379610C>T	ENST00000367188.4	-	1	1309	c.930G>A	c.(928-930)ggG>ggA	p.G310G	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	310					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GTAAATCTTGCCCCTTGTTAG	0.522000													27	191					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001373	150001373	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001373C>T	ENST00000543571.1	-	5	2778	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	744	Protein kinase.				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	p.R744Q(2)|p.R744L(2)		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)		GACTTGATTTCGAAGAAGAAC	0.383000													42	67					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667694	154667694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154667694C>T	ENST00000404039.1	+	20	2357	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000377770.3_Silent_p.G654G|DPP6_ENST00000332007.3_Silent_p.G592G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCCACGGCGCGGTGGTGG	0.647000													13	23					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722254	53722254	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722254G>A	ENST00000536324.2	-	3	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SP7_ENST00000303846.3_Silent_p.F324F|SP7_ENST00000537210.2_Silent_p.F306F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGTTGCAGACGAAGGGCCTCT	0.617000													43	57					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127883	3127883	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3127883T>G	ENST00000380266.3	-	2	2155	c.1834A>C	c.(1834-1836)Aat>Cat	p.N612H	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	612					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTGGCTACATTTTCAGCCGGC	0.428000													40	65					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152674558	152674558	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152674558T>G	ENST00000367255.5	-	69	11694	c.11093A>C	c.(11092-11094)aAa>aCa	p.K3698T	SYNE1_ENST00000423061.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3698T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3669T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3683T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3698					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCAGGAATTTTATTTGTTC	0.388000										HNSCC(10;0.0054)			12	36					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62315708	62315708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62315708C>A	ENST00000261517.5	-	8	599	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E176*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E133*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	176	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTGGCTTCTTTTGGCTTA	0.279000													5	9					0.000602214	0.000636035	1	1	0
REXO1	57455	broad.mit.edu	37	19	1816537	1816537	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1816537C>T	ENST00000170168.4	-	14	3443	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1117	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTTGTGTCGGCAAGGTCA	0.662000													23	47					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111583042	111583042	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111583042A>G	ENST00000304987.3	+	9	1382	c.1209A>G	c.(1207-1209)gcA>gcG	p.A403A		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	403					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CATTTCCAGCATCTGGCTGTC	0.557000													20	35					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88828941	88828941	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:88828941C>A	ENST00000303254.3	+	4	634	c.492C>A	c.(490-492)gtC>gtA	p.V164V		NM_152670.2	NP_689883.1			testis expressed 37																		GCCATATAGTCAAGGTCCCCA	0.522000													9	60					0.000673444	0.000709932	1	1	0
ITCH	83737	broad.mit.edu	37	20	33080315	33080315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33080315G>T	ENST00000374864.4	+	23	2542	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*	ITCH_ENST00000535650.1_Nonsense_Mutation_p.E667*|ITCH_ENST00000262650.6_Nonsense_Mutation_p.E818*	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	818	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTTTGTTAAAGAAATTGATAA	0.318000													16	37					1.99824e-07	2.29918e-07	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10556716	10556716	+	Silent	SNP	C	C	T	rs55665031		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556716C>T	ENST00000316170.3	+	1	477	c.60C>T	c.(58-60)atC>atT	p.I20I	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	21						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTATTTTTATCGTCTTCTCTG	0.388000													11	55					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074084	20074084	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:20074084G>A	ENST00000351989.3	+	2	1027	c.598G>A	c.(598-600)Gat>Aat	p.D200N	DGCR8_ENST00000407755.1_Missense_Mutation_p.D200N|DGCR8_ENST00000383024.2_Missense_Mutation_p.D200N	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	200	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TGCAGTGCTCGATGAGTTAGA	0.483000													46	102					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231061365	231061365	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:231061365A>C	ENST00000366661.4	-	13	1493	c.1486T>G	c.(1486-1488)Tat>Gat	p.Y496D	TTC13_ENST00000414259.1_Missense_Mutation_p.Y443D|TTC13_ENST00000366662.4_Missense_Mutation_p.Y443D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	496							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAGGCTTATAACTCTCAAAA	0.403000													31	54					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47103827	47103827	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47103827C>T	ENST00000409792.3	-	14	6161	c.6119G>A	c.(6118-6120)cGa>cAa	p.R2040Q	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCCCTTCCTCGTTCAGTTGC	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								58	116					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014641	9014641	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9014641T>C	ENST00000397910.4	-	31	38537	c.38334A>G	c.(38332-38334)aaA>aaG	p.K12778K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12780	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGGGCTTTTGGGGTCAA	0.557000													52	70					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85404080	85404080	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85404080C>T	ENST00000373131.1	+	1	619	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DACH2_ENST00000373125.4_Silent_p.F152F	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	152	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAAAGACTTCGAAACTTTGT	0.577000													15	35					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504169	110504169	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110504169A>G	ENST00000378402.5	+	62	10286	c.10182A>G	c.(10180-10182)ggA>ggG	p.G3394G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3394					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)			TTTGGCCAGGAACCTATCAGA	0.348000										HNSCC(38;0.096)			7	9					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101031134	101031134	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031134A>C	ENST00000284382.4	-	5	599	c.176T>G	c.(175-177)tTt>tGt	p.F59C	CERS3_ENST00000538112.2_Missense_Mutation_p.F59C|CERS3_ENST00000394113.1_Missense_Mutation_p.F59C|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	59						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGAAGCAACAAATCTACAAAA	0.313000													16	25					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140528	123140528	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123140528G>A	ENST00000264501.4	+	21	2654	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.D761N|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D761N			Q2LD37	K1109_HUMAN	KIAA1109	761					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGTATATGGATTTTGAAGA	0.353000													4	92					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45936008	45936008	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:45936008G>A	ENST00000374391.2	+	8	1165	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	371	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.R371Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CACCTTCTGCGAACACATCTG	0.537000													17	24					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69715499	69715499	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69715499C>T	ENST00000260363.4	+	7	682	c.563_splice	c.e7-1	p.R189_splice	KIF23_ENST00000352331.4_Splice_Site_p.R189_splice|KIF23_ENST00000559279.1_Splice_Site_p.R189_splice|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000558585.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site_p.R189_splice	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	189	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTTTTTTAGACGACAAGTAGA	0.373000													12	30					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46290212	46290212	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:46290212T>G	ENST00000361297.2	+	2	568	c.285T>G	c.(283-285)gaT>gaG	p.D95E	MAST2_ENST00000372009.2_Missense_Mutation_p.D95E	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	95					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCAGGATGATTGTAAGTTAT	0.398000													45	89					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028325	21028325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21028325C>A	ENST00000381545.3	+	9	1103	c.884C>A	c.(883-885)tCa>tAa	p.S295*	SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S295*|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S295*|LST3_ENST00000540229.1_Nonsense_Mutation_p.S295*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	295					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTTCACTATCATTGCATGTG	0.313000													4	38					0.00024832	0.000265255	1	1	0
SLC25A5	292	broad.mit.edu	37	X	118603829	118603829	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118603829G>T	ENST00000317881.8	+	2	433	c.317G>T	c.(316-318)aGa>aTa	p.R106I	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	106					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GTGGACAAGAGAACCCAGTTT	0.517000													51	142					1.95508e-11	2.43271e-11	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3151809	3151809	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:3151809C>T	ENST00000356443.4	-	12	2059	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MYOM1_ENST00000261606.7_Missense_Mutation_p.E576K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E576K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	576	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACGACCTTCGATCAATCCA	0.507000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	39					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753429	13753429	+	Silent	SNP	C	C	T	rs144055129		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753429C>T	ENST00000265104.4	-	63	10889	c.10785G>A	c.(10783-10785)acG>acA	p.T3595T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3595	AAA 5 (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)					GAGATGCCTTCGTGACAATAA	0.383000									Kartagener syndrome				5	59					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262170	15262170	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262170C>A	ENST00000256953.2	-	5	810	c.474G>T	c.(472-474)gaG>gaT	p.E158D	RERG_ENST00000546331.1_Missense_Mutation_p.E139D|RERG_ENST00000536465.1_Missense_Mutation_p.E158D|RERG_ENST00000538313.1_Missense_Mutation_p.E158D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	158					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATAGAATATCTCTGTGATGT	0.537000													46	70					3.05275e-18	4.13032e-18	1	1	0
FAM72B	653820	broad.mit.edu	37	1	120846067	120846067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120846067C>A	ENST00000369390.3	+	3	1132	c.303C>A	c.(301-303)ttC>ttA	p.F101L	FAM72B_ENST00000355228.4_Missense_Mutation_p.F61L|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	101										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACGGACACTTCTGGATGTTTC	0.378000													82	128					1.69331e-39	2.44455e-39	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4708218	4708218	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4708218G>T	ENST00000540757.2	+	7	745	c.585G>T	c.(583-585)aaG>aaT	p.K195N	DYRK4_ENST00000543431.1_Missense_Mutation_p.K195N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K195N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	195	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGTTGATGAAGAATAACAACT	0.393000													26	50					4.72057e-08	5.51616e-08	1	1	0
LYST	1130	broad.mit.edu	37	1	235878565	235878565	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235878565G>A	ENST00000389794.3	-	42	9894	c.9720C>T	c.(9718-9720)agC>agT	p.S3240S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3240S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3240	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCACAGTGCCGCTATTGGAAT	0.463000													24	37					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582729	158582729	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158582729C>T	ENST00000368148.3	-	51	7192	c.7012G>A	c.(7012-7014)Gac>Aac	p.D2338N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D2335N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2338	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGTATAGTCCTCCAGTGAG	0.468000													17	33					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149943146	149943146	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:149943146T>G	ENST00000369135.3	-	3	413	c.119A>C	c.(118-120)gAt>gCt	p.D40A	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	40					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTGTTCAAAATCACTGAGGGC	0.473000													5	64					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1787174	1787174	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1787174T>G	ENST00000539485.1	-	25	3344	c.3111A>C	c.(3109-3111)gaA>gaC	p.E1037D	ATP8B3_ENST00000525591.1_Missense_Mutation_p.E990D|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1027D			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1027					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACCATCCTTCATACAGGG	0.597000													8	14					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95813664	95813664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813664C>A	ENST00000416240.2	-	11	1295	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E260*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.E368*	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	368					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.E368*(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TACATGAGTTCTCCCACAAAA	0.398000													6	52					0.0215528	0.0219788	1	1	0
PTPN12	0	broad.mit.edu	37	7	77230000	77230000	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77230000A>C	ENST00000248594.6	+	8	844	c.572A>C	c.(571-573)cAg>cCg	p.Q191P	PTPN12_ENST00000415482.2_Missense_Mutation_p.Q72P|PTPN12_ENST00000435495.2_Missense_Mutation_p.Q61P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	191	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGGCTGTATCAGTTTCATTAT	0.338000													3	13					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34049795	34049795	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049795C>T	ENST00000389232.4	+	60	8773	c.8703C>T	c.(8701-8703)gcC>gcT	p.A2901A	RYR3_ENST00000415757.3_Silent_p.A2901A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAATGGTGGCCGGGTGAGTCT	0.478000													7	8					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484239	87484239	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87484239A>G	ENST00000327946.7	-	11	1813	c.1728T>C	c.(1726-1728)gtT>gtC	p.V576V	GRID1_ENST00000536331.1_Silent_p.V147V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	576						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCAGCACACCAACCACAGGGA	0.532000										Multiple Myeloma(13;0.14)			24	51					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140215942	140215942	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140215942G>A	ENST00000525929.1	+	1	1974	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S658S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCCCTCGCTGACAGCCA	0.657000													33	77					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57155661	57155661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57155661C>T	ENST00000535318.2	+	10	1217	c.856C>T	c.(856-858)Cga>Tga	p.R286*	CPNE2_ENST00000537605.1_Nonsense_Mutation_p.R184*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.R286*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.R286*			Q96FN4	CPNE2_HUMAN	copine II	286										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATCATCCTGCGATCCTGCAA	0.547000													16	119					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44955154	44955154	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44955154C>A	ENST00000296125.4	+	14	2060	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	664					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AATTTATCGTCAAGTTAAGTT	0.413000											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	63					0.0381472	0.0387537	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167016237	167016237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167016237C>A	ENST00000392766.2	-	18	2075	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E550*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	579						intracellular	zinc ion binding	p.Q578fs*1(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAGGCTATTTCTTGTAACAAC	0.289000													20	47					5.26018e-13	6.70247e-13	1	1	0
FAM5C	0	broad.mit.edu	37	1	190129925	190129925	+	Missense_Mutation	SNP	G	G	A	rs147790033		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:190129925G>A	ENST00000367462.3	-	7	1288	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R251C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		353						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)					TCATAACGGCGCTGAAAATTA	0.353000													46	44					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442897	51442897	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51442897A>C	ENST00000418425.2	+	2	222	c.203A>C	c.(202-204)aAt>aCt	p.N68T	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.N68T|LETMD1_ENST00000380123.2_Missense_Mutation_p.N68T|LETMD1_ENST00000547008.1_Missense_Mutation_p.N68T|LETMD1_ENST00000550929.1_Missense_Mutation_p.N12T|LETMD1_ENST00000548516.1_3'UTR	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	68	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						AAAGCGATTAATGGGAAATAC	0.403000													8	25					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193053858	193053858	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193053858T>G	ENST00000432079.1	+	8	1357	c.789T>G	c.(787-789)atT>atG	p.I263M	TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.I538M|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000416058.2_Missense_Mutation_p.I263M|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.I538M|TROVE2_ENST00000367446.3_Missense_Mutation_p.I538M|TROVE2_ENST00000460715.2_3'UTR			P10155	RO60_HUMAN	TROVE domain family, member 2	538	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TAGATATGATTTAACCATAAG	0.418000													10	43					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81662189	81662189	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81662189T>G	ENST00000356860.3	-	12	1405	c.1067A>C	c.(1066-1068)aAg>aCg	p.K356T	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K356T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	356	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAATAATCTTATTGCAGTT	0.279000													4	30					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342350	94342350	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94342350T>G	ENST00000436063.2	-	2	1198	c.1141A>C	c.(1141-1143)Agc>Cgc	p.S381R	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTATGGGGCTCTTTTTGTTG	0.393000													41	105					0	0	1	0	0
RP11-114H24.2	0	broad.mit.edu	37	15	78215280	78215280	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78215280C>A	ENST00000567226.1	-	0	297																											ACCAATGATTCTATGTTTTCA	0.532000													19	69					2.94398e-08	3.45884e-08	1	1	0
ALDH1A3	220	broad.mit.edu	37	15	101432738	101432738	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101432738G>A	ENST00000329841.5	+	4	901	c.369G>A	c.(367-369)ggG>ggA	p.G123G	ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	123					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TGGATACAGGGAAGCCATTTC	0.463000													45	78					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808063	20808063	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:20808063C>T	ENST00000601440.1	-	4	766	c.620G>A	c.(619-621)gGc>gAc	p.G207D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGGCTTTGCCACATTCTTC	0.368000													22	39					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049829	67049829	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67049829G>A	ENST00000308595.5	+	12	1335	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A349T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	349	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAGCCCCATGCCAGCGTGTG	0.652000													39	54					0	0	1	0	0
STX19	415117	broad.mit.edu	37	3	93733669	93733669	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93733669A>G	ENST00000315099.2	-	2	701	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	149					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTGTATATAAACATGATTTGC	0.378000													6	99					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225596	21225596	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21225596G>A	ENST00000233242.1	-	29	12825	c.12698C>T	c.(12697-12699)tCg>tTg	p.S4233L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4233					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)	ATGGACTTTCGAATATACCTG	0.413000													16	39					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922365	190922365	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190922365C>T	ENST00000260950.4	-	3	880		c.e3-1		C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin						muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAACGGATTCTGTTTGAAAA	0.358000													13	43					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232619691	232619691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232619691C>T	ENST00000366630.1	-	5	2186	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G610R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	610	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAAAGGATCCCGATCTTGTGC	0.428000													6	60					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100928670	100928670	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100928670T>G	ENST00000548884.1	+	6	1130	c.589T>G	c.(589-591)Ttg>Gtg	p.L197V	NR1H4_ENST00000188403.7_Missense_Mutation_p.L207V|NR1H4_ENST00000392986.3_Missense_Mutation_p.L201V|NR1H4_ENST00000551379.1_Missense_Mutation_p.L211V|NR1H4_ENST00000549996.1_Missense_Mutation_p.L150V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	211					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGTTTTAGGCTTGTTAACTGA	0.428000													18	41					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99823086	99823086	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:99823086C>T	ENST00000450253.2	-	2	1590	c.66G>A	c.(64-66)acG>acA	p.T22T	EIF4E_ENST00000280892.6_Silent_p.T42T|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Silent_p.T50T|EIF4E_ENST00000505992.1_Silent_p.T22T	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	22					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	p.T22T(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTAGATTCCGTTTTCTCCT	0.388000													41	88					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118948740	118948740	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118948740C>T	ENST00000467604.1	-	3	598	c.207G>A	c.(205-207)acG>acA	p.T69T	B4GALT4_ENST00000359213.3_Silent_p.T69T|B4GALT4_ENST00000483209.1_Silent_p.T69T|B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Silent_p.T22T|B4GALT4_ENST00000393765.2_Silent_p.T69T			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	69					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CTACCTTCTTCGTGGATGCTT	0.388000													4	42					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112673048	112673048	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112673048T>C	ENST00000550722.1	-	37	5705	c.5310A>G	c.(5308-5310)ccA>ccG	p.P1770P	HECTD4_ENST00000430131.2_Silent_p.P1494P|HECTD4_ENST00000377560.5_Silent_p.P1744P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CAGAAGCGGTTGGAGAAAGAA	0.423000													12	19					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642319	156642319	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156642319T>C	ENST00000368223.3	-	4	1793	c.1661A>G	c.(1660-1662)cAa>cGa	p.Q554R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	554	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGTGACTCTTGAATCTCCTC	0.433000													22	33					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3739988	3739988	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3739988G>A	ENST00000378230.3	-	19	2827	c.2503_splice	c.e19+1	p.P835_splice		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	835						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGGCACTCACGGTTGCAATCC	0.537000													32	76					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938771	89938771	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89938771C>A	ENST00000405460.2	+	13	2562	c.2466C>A	c.(2464-2466)ttC>ttA	p.F822L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	822	Calx-beta 6.				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)		GCAATGAATTCTATGGAAACA	0.443000													49	85					4.18559e-23	5.84444e-23	1	1	0
ZP1	22917	broad.mit.edu	37	11	60635066	60635066	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60635066A>G	ENST00000278853.5	+	1	32	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	11					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGGGGTTACCCTGTGGCC	0.672000													11	29					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26793009	26793009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:26793009C>T	ENST00000541819.2	-	10	1623	c.1521G>A	c.(1519-1521)tgG>tgA	p.W507*	GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W366*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.W451*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W380*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W451*			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	451					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGATCCTGGACCATCTGTCTA	0.408000													7	68					0	0	1	0	0
EXD2	0	broad.mit.edu	37	14	69695675	69695675	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69695675G>A	ENST00000409014.1	+	5	758	c.101G>A	c.(100-102)gGc>gAc	p.G34D	EXD2_ENST00000409242.1_Missense_Mutation_p.G34D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.G34D|EXD2_ENST00000409675.1_Missense_Mutation_p.G34D|EXD2_ENST00000409018.3_Missense_Mutation_p.G159D|EXD2_ENST00000312994.5_Missense_Mutation_p.G159D|EXD2_ENST00000449989.1_Missense_Mutation_p.G34D	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	34	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGGCAGATGGCACCATTTTG	0.507000													34	56					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122724127	122724127	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122724127G>A	ENST00000512454.1	+	3	507	c.291G>A	c.(289-291)tcG>tcA	p.S97S	EXOSC9_ENST00000379663.3_Silent_p.S113S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.S113S			Q06265	EXOS9_HUMAN	exosome component 9	113	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TAAGAAATTCGAAGTGTATAG	0.378000													11	29					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38329085	38329085	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38329085C>T	ENST00000215957.6	+	13	2400	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	758						cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.V758V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632000													37	58					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174219751	174219751	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174219751G>T	ENST00000251507.4	+	6	1030	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D249Y|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	286					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGAAGACGATGGAAAAGG	0.383000													15	49					1.3612e-06	1.53357e-06	1	1	0
UGP2	7360	broad.mit.edu	37	2	64083494	64083494	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64083494G>A	ENST00000337130.5	+	2	550	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Missense_Mutation_p.R34Q|UGP2_ENST00000394417.2_Missense_Mutation_p.R14Q|UGP2_ENST00000467648.2_Missense_Mutation_p.R14Q	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	25				R -> L (in Ref. 1).	glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GAAGTCATTCGGCAAGAGCTA	0.398000													57	112					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35060826	35060826	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35060826A>G	ENST00000358901.6	-	12	2349	c.1454T>C	c.(1453-1455)gTc>gCc	p.V485A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	485					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCACGTTTGACATCCTCTAG	0.547000													37	90					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:120475079G>T	ENST00000355622.6	+	3	774	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E185*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	225					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCATTTAAAGAAATTAGGCT	0.373000													12	45					0.00185496	0.00194308	1	1	0
MUC4	4585	broad.mit.edu	37	3	195481210	195481210	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195481210C>T	ENST00000463781.3	-	19	15661	c.15202G>A	c.(15202-15204)Ggc>Agc	p.G5068S	MUC4_ENST00000346145.4_Missense_Mutation_p.G832S|MUC4_ENST00000349607.4_Missense_Mutation_p.G781S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5016S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1825					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGTAGCGGCCGAAGGTGCCC	0.657000													6	55					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458506	155458506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155458506C>T	ENST00000461783.3	+	7	2663	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R464*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R464*|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R464*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R464*|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	464					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAATTTCATGCGAGAGTTGGA	0.512000													31	207					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23980445	23980445	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980445C>A	ENST00000238789.5	-	25	4264	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1307							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAAGAATCTTTTGTTCAG	0.383000													8	129					0.00621372	0.0064192	1	1	0
DGKK	139189	broad.mit.edu	37	X	50167262	50167262	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50167262A>C	ENST00000376025.2	-	0	799							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGGTGTGCAAAGTAGAGCTT	0.403000													6	44					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33316752	33316752	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33316752T>C	ENST00000315596.10	+	23	2685	c.2499T>C	c.(2497-2499)gtT>gtC	p.V833V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	833					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAATGATGGTTCGATGGCTAC	0.308000													17	34					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990349	47990349	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47990349C>T	ENST00000371741.4	-	2	1914	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	583					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGACATACTTCGCATGTCAAT	0.522000													33	47					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148796274	148796274	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:148796274G>A	ENST00000336498.3	+	8	1044	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	269	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTTTACAGCCGAAGGCTACCT	0.453000													5	57					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282175	74282175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74282175C>T	ENST00000253577.3	-	14	1950	c.1926G>A	c.(1924-1926)tcG>tcA	p.S642S	ABCB7_ENST00000373394.3_Silent_p.S641S|ABCB7_ENST00000339447.4_Silent_p.S601S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	641	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTCAGTAATCGAATCTAACG	0.353000													11	16					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99852524	99852524	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99852524C>A	ENST00000373031.4	+	5	664	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	149	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCACAACTTTCTTTGAACAGT	0.378000													20	33					5.03518e-11	6.23768e-11	1	1	0
IQUB	154865	broad.mit.edu	37	7	123104994	123104994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123104994C>A	ENST00000466202.1	-	10	2227	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.G551*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.G551*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	551										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTTGACTCCTCTCATCATA	0.313000													27	60					2.61193e-14	3.39424e-14	1	1	0
BRD7	29117	broad.mit.edu	37	16	50384060	50384060	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50384060G>T	ENST00000394688.3	-	5	624	c.465C>A	c.(463-465)ttC>ttA	p.F155L	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.F155L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	155	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GAAATGAAAAGAAAGCACTTG	0.333000													6	29					0.0215528	0.0219788	1	1	0
NMD3	51068	broad.mit.edu	37	3	160952642	160952642	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160952642A>G	ENST00000460469.1	+	5	940	c.486_splice	c.e5+1	p.K162_splice	NMD3_ENST00000472947.1_Splice_Site_p.K162_splice|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Splice_Site_p.K162_splice			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	162					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTGAGGCAAAAGGTAATGAGA	0.398000													28	70					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101759345	101759345	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101759345C>A	ENST00000261637.4	+	46	6241	c.6067C>A	c.(6067-6069)Cta>Ata	p.L2023I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2023					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAATCCATTCTATTACTCAG	0.373000													3	12					0.004672	0.00483628	1	1	0
MTM1	4534	broad.mit.edu	37	X	149764986	149764986	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149764986G>T	ENST00000370396.2	+	3	142	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y|MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_5'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	30	GRAM.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAATCGAGATCTCACTGA	0.428000													15	18					0.000566183	0.00059967	1	1	0
NRAP	4892	broad.mit.edu	37	10	115389405	115389405	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115389405A>G	ENST00000369358.4	-	19	2250	c.2006T>C	c.(2005-2007)gTg>gCg	p.V669A	NRAP_ENST00000360478.3_Missense_Mutation_p.V626A|NRAP_ENST00000369360.3_Missense_Mutation_p.V634A|NRAP_ENST00000359988.3_Missense_Mutation_p.V661A			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	661						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCAGGCAGCACAGTGTATTC	0.498000													27	53					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138880864	138880864	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138880864G>A	ENST00000370557.1	-	9	1776	c.749C>T	c.(748-750)aCg>aTg	p.T250M	ATP11C_ENST00000327569.3_Missense_Mutation_p.T253M|ATP11C_ENST00000370543.1_Missense_Mutation_p.T253M|ATP11C_ENST00000359686.2_Missense_Mutation_p.T253M|ATP11C_ENST00000361648.2_Missense_Mutation_p.T253M			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	253					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTTTTTAGCGTAGCTCCTTT	0.338000													21	39					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47618877	47618877	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47618877G>A	ENST00000383738.2	-	2	2737	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CSPG5_ENST00000264723.4_Silent_p.F213F|CSPG5_ENST00000456150.1_Silent_p.F75F	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	213					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGTCCTTCGAAGTAGTCGA	0.592000													14	39					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12571276	12571276	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12571276C>T	ENST00000444864.1	+	9	1461	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Silent_p.I325I|TSEN2_ENST00000415684.1_Silent_p.I358I|TSEN2_ENST00000402228.3_Silent_p.I384I|TSEN2_ENST00000383797.5_Silent_p.I367I|TSEN2_ENST00000314571.7_Silent_p.I358I|TSEN2_ENST00000284995.6_Silent_p.I384I	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	384					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTGTCATTATCGAGCTAGTTG	0.373000													19	34					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1263164	1263164	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1263164G>A	ENST00000308624.5	+	13	1157	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.R216Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	343	PH.				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)		GATTGGGTGCGAGCAGAAAGG	0.388000													15	35					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48625670	48625670	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48625670G>A	ENST00000006658.6	+	3	272	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.R35Q|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	35					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GACAAGGACCGAAGTGCGACG	0.647000													15	23					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30957322	30957322	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:30957322C>A	ENST00000295055.8	-	19	1967	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	CAPN13_ENST00000534090.2_Missense_Mutation_p.E597D	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	597					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TACCTGTATTCTCTATGGCCT	0.552000													12	19					3.07112e-06	3.42433e-06	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11162029	11162029	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11162029A>G	ENST00000380718.1	-	11	3119	c.2247T>C	c.(2245-2247)tgT>tgC	p.C749C	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Intron	NM_006125.2	NP_006116.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	0					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAGAGCCCCACACCATGCCA	0.522000											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	119	244					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162582	29162582	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29162582A>C	ENST00000321990.4	+	2	1861	c.1483A>C	c.(1483-1485)Aac>Cac	p.N495H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	495					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCAGGCAAAAACAGAGAGGG	0.308000													23	45					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31713236	31713236	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31713236T>G	ENST00000320027.5	-	15	2333	c.1989A>C	c.(1987-1989)caA>caC	p.Q663H	HSPH1_ENST00000445273.2_Missense_Mutation_p.Q665H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q619H|HSPH1_ENST00000380406.5_Missense_Mutation_p.Q622H|HSPH1_ENST00000429785.2_Missense_Mutation_p.Q482H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	663					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAAAAAATTTTGATGATCCT	0.363000													10	26					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100194797	100194797	+	Silent	SNP	G	G	A	rs142157056	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100194797G>A	ENST00000317233.4	-	17	3145	c.2910C>T	c.(2908-2910)ttC>ttT	p.F970F	AFF3_ENST00000409236.1_Silent_p.F970F|AFF3_ENST00000409579.1_Silent_p.F995F|AFF3_ENST00000356421.2_Silent_p.F995F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	970					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACATATCATCGAAGACAAGTT	0.542000													65	126					0	0	1	0	0
CCNI2	645121	broad.mit.edu	37	5	132086667	132086667	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132086667C>T	ENST00000378731.1	+	4	803	c.752C>T	c.(751-753)aCg>aTg	p.T251M	CCNI2_ENST00000468733.1_3'UTR|SEPT8_ENST00000378719.2_3'UTR	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	251					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATATTGGGACGCCGCTGGAC	0.493000													32	58					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897168	36897168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897168C>A	ENST00000429976.2	-	12	4160	c.3913G>T	c.(3913-3915)Gaa>Taa	p.E1305*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E755*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E755*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1305					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						GATTTTATTTCTTTCCAAATC	0.458000													16	114					2.23348e-06	2.50077e-06	1	1	0
FAM217A	222826	broad.mit.edu	37	6	4073522	4073522	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:4073522T>C	ENST00000274673.3	-	6	692	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	97																	TTCTCTATGGTACTTCCTTCA	0.308000													20	37					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000446365.2_Silent_p.V472V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318000													3	32					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337601	13337601	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337601G>T	ENST00000380622.2	-	1	917	c.453C>A	c.(451-453)ttC>ttA	p.F151L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	151	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.F151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCGAGCCAAGAAATTTGCAA	0.398000													17	17					1.5739e-10	1.93697e-10	1	1	0
SNAPIN	23557	broad.mit.edu	37	1	153632005	153632005	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153632005G>A	ENST00000368685.5	+	3	362	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	91					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	p.R91L(1)		lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCGGCGACGCGTTGTCTTG	0.443000													26	47					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4873207	4873207	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4873207C>T	ENST00000361571.5	-	17	3587	c.3176G>A	c.(3175-3177)cGa>cAa	p.R1059Q	CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1065Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1083Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1060Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1062Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R1060Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1060	IQ 1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGTACTTTCGGAAGGCCGT	0.547000													89	134					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31614112	31614112	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31614112A>C	ENST00000399332.1	-	16	3020	c.2532T>G	c.(2530-2532)caT>caG	p.H844Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.H844Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	844					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGCTTTAAAATGGTCATCGT	0.343000													15	18					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666229	133666229	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133666229C>T	ENST00000310926.4	-	9	1439	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R313H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	389					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAAAACAAAGCGCTTCATGAG	0.512000													16	44					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167844384	167844384	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167844384C>T	ENST00000367848.1	-	13	1668	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N|ADCY10_ENST00000367851.4_Missense_Mutation_p.D483N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	483	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.D483N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAGGGTAATCCTCCTTTCTG	0.393000													20	37					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42466810	42466810	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42466810A>G	ENST00000262407.5	-	1	63	c.32T>C	c.(31-33)cTc>cCc	p.L11P	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L11P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	11					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGAAGCCAGAGGGCTTGCAG	0.602000													22	47					0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39116403	39116403	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39116403C>T	ENST00000302313.5	+	8	887	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	287					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGACATTCGGGTGCTAAT	0.383000													16	37					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774078	40774078	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40774078G>T	ENST00000602553.1	-	5	1491	c.1197C>A	c.(1195-1197)ctC>ctA	p.L399L	ZNF658_ENST00000377626.3_Silent_p.L399L|ZNF658_ENST00000441795.1_Silent_p.L397L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGCTGAATGAGGTGTGCTT	0.403000													63	306					3.56336e-21	4.91459e-21	1	1	0
TRIM37	4591	broad.mit.edu	37	17	57106003	57106003	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57106003C>A	ENST00000376149.3	-	19	2473	c.1664G>T	c.(1663-1665)aGa>aTa	p.R555I	TRIM37_ENST00000393065.2_Missense_Mutation_p.R643I|TRIM37_ENST00000393066.3_Missense_Mutation_p.R677I|TRIM37_ENST00000262294.7_Missense_Mutation_p.R677I			O94972	TRI37_HUMAN	tripartite motif containing 37	677						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTTTTGAGTCTTTTTAGCAT	0.393000									Mulibrey Nanism				22	33					3.62473e-10	4.42315e-10	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88330517	88330517	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88330517C>A	ENST00000325089.6	+	2	3093	c.2874C>A	c.(2872-2874)ttC>ttA	p.F958L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.F717L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	958						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAGCCAGTTCTAAAAGCAAA	0.398000													31	64					9.65021e-13	1.22324e-12	1	1	0
AMACR	23600	broad.mit.edu	37	5	34005876	34005876	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:34005876A>T	ENST00000335606.6	-	2	464	c.376T>A	c.(376-378)Tat>Aat	p.Y126N	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.Y126N|AMACR_ENST00000502637.1_Missense_Mutation_p.Y126N|AMACR_ENST00000382085.3_Missense_Mutation_p.Y126N|AMACR_ENST00000382072.2_Missense_Mutation_p.Y126N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	126					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AAAGCCAAATAGTTGATATCG	0.388000													24	38					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920089	97920089	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97920089T>G	ENST00000534948.1	+	0	4867							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCTAAACAGCTTGTGAAATGT	0.378000													17	40					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182925518	182925518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182925518G>A	ENST00000328913.3	-	23	2887	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R864*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	864	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTTTAAATCGAATCAAATCC	0.438000													20	44					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36214035	36214035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:36214035G>A	ENST00000251195.5	-	13	2539	c.2443C>T	c.(2443-2445)Cga>Tga	p.R815*	CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R751*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R762*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.R815*			Q9HAW4	CLSPN_HUMAN	claspin	815					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAACTGGCTCGAAATAGCCCA	0.468000													54	92					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708098	146708098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146708098G>T	ENST00000392299.2	+	7	2145	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	GRM1_ENST00000282753.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.E559*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.E559*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	559					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGTGCAAGATGAGTTCACCTG	0.438000													49	90					1.67211e-32	2.39548e-32	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89478270	89478270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89478270A>C	ENST00000336596.2	+	12	2314	c.2089A>C	c.(2089-2091)Att>Ctt	p.I697L	EPHA3_ENST00000494014.1_Missense_Mutation_p.I697L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	697	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCCAGTTATGATTGTCACAGA	0.289000										TSP Lung(6;0.00050)			15	34					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124701112	124701112	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124701112G>A	ENST00000262219.6	-	10	907	c.841_splice	c.e10+1	p.L280_splice	ANXA13_ENST00000419625.1_Splice_Site_p.L239_splice	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	239					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTACTTTACCGAGAGTTAAAT	0.443000													23	38					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3727581	3727581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3727581G>T	ENST00000252505.3	+	5	457	c.295G>T	c.(295-297)Gaa>Taa	p.E99*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	118							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AAACTTGGAAGAAGGTGCGTT	0.547000										HNSCC(21;0.051)			39	48					4.92203e-23	6.86763e-23	1	1	0
AMPH	273	broad.mit.edu	37	7	38431504	38431504	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38431504G>A	ENST00000356264.2	-	19	1938	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	AMPH_ENST00000325590.5_Missense_Mutation_p.P533S|AMPH_ENST00000428293.2_Missense_Mutation_p.P533S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	575					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P575S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGGGGCCCGGAGGAGCCGCG	0.612000													24	36					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720011	28720011	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28720011C>A	ENST00000257197.3	-	10	1775	c.1514G>T	c.(1513-1515)gGc>gTc	p.G505V	DSC1_ENST00000257198.5_Missense_Mutation_p.G505V|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	505	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCACCTTAAGCCTTCACCACT	0.368000													17	40					3.41278e-10	4.16994e-10	1	1	0
TBX4	9496	broad.mit.edu	37	17	59560407	59560407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59560407G>T	ENST00000393853.4	+	9	1334	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Nonsense_Mutation_p.E390*			P57082	TBX4_HUMAN	T-box 4	390					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCCCCAGAGAAGCATGTAT	0.607000													28	54					1.68575e-08	1.99097e-08	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98519436	98519436	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98519436C>T	ENST00000359863.4	+	21	2892	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	TRRAP_ENST00000446306.3_Missense_Mutation_p.L894F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L895F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	895					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTACCGTGTGCTCGGTAAGTT	0.547000													53	90					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225672668	225672668	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225672668A>C	ENST00000409592.3	-	32	3640	c.3527T>G	c.(3526-3528)cTa>cGa	p.L1176R	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1182R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1182							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTAGCCATTAGATTTTTTAG	0.423000													4	10					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110865047	110865047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110865047C>A	ENST00000265171.5	+	4	1004	c.559C>A	c.(559-561)Ctc>Atc	p.L187I	EGF_ENST00000509793.1_Missense_Mutation_p.L187I|EGF_ENST00000503392.1_Missense_Mutation_p.L187I|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	187					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAGAGCAGATCTCGATGGTGT	0.423000													10	34					9.70103e-10	1.17791e-09	1	1	0
LMOD2	442721	broad.mit.edu	37	7	123296133	123296133	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123296133A>G	ENST00000458573.2	+	1	273	c.116A>G	c.(115-117)gAc>gGc	p.D39G	LMOD2_ENST00000456238.2_Missense_Mutation_p.D39G	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	39	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding										GAGTTGGAAGACATTGAACCT	0.537000													3	23					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118690	55118690	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55118690T>C	ENST00000414150.2	+	3	369	c.91T>C	c.(91-93)Tct>Cct	p.S31P	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.S31P|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S31P|MROH7_ENST00000421030.2_Missense_Mutation_p.S31P|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		GGGATTAGGGTCTGGTACCAT	0.572000													24	46					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163210	38163210	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38163210G>A	ENST00000308059.6	+	35	4979	c.4958G>A	c.(4957-4959)cGa>cAa	p.R1653Q	DLEC1_ENST00000452631.2_Missense_Mutation_p.R1656Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1653Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1653					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCCAGCAGCGAGTCCGGGAG	0.632000													25	52					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079070	10079070	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10079070C>A	ENST00000264828.3	-	59	4390	c.4305G>T	c.(4303-4305)aaG>aaT	p.K1435N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1435	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGGTCTCCCTTGGGACCAG	0.607000													65	109					6.8682e-38	9.89239e-38	1	1	0
ACE	1636	broad.mit.edu	37	17	61571794	61571794	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61571794G>T	ENST00000577647.1	+	11	1666	c.1621G>T	c.(1621-1623)Gcc>Tcc	p.A541S	ACE_ENST00000428043.1_Missense_Mutation_p.A1115S|ACE_ENST00000290866.4_Missense_Mutation_p.A1115S|ACE_ENST00000290863.6_Missense_Mutation_p.A541S|ACE_ENST00000421982.2_Missense_Mutation_p.A361S|ACE_ENST00000413513.3_Missense_Mutation_p.A541S|ACE_ENST00000490216.2_Missense_Mutation_p.A541S			P12821	ACE_HUMAN	angiotensin I converting enzyme	1115	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACCCAGGGGCCAAGTTCCA	0.547000													11	25					0.0135373	0.0139058	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735436	55735436	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735436G>T	ENST00000312345.2	-	1	554	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTCACAAAAGAAATGATTAA	0.403000													11	31					5.16669e-11	6.39918e-11	1	1	0
BBS7	0	broad.mit.edu	37	4	122765149	122765149	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122765149A>G	ENST00000264499.4	-	12	1421	c.1238T>C	c.(1237-1239)gTt>gCt	p.V413A	BBS7_ENST00000506636.1_Missense_Mutation_p.V413A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	413					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTATTGGAACATCACTCTA	0.303000									Bardet-Biedl syndrome				5	8					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180967	168180967	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:168180967G>A	ENST00000519560.1	-	17	2150	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_ENST00000404867.3_Silent_p.F577F|SLIT3_ENST00000332966.8_Silent_p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	577					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)			CTGCTCCATCGAAAGCTCCCT	0.532000													6	14					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51008020	51008020	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:51008020G>T	ENST00000360719.2	-	18	2357	c.2220C>A	c.(2218-2220)ttC>ttA	p.F740L	CPT1B_ENST00000434492.2_Missense_Mutation_p.F535L|CPT1B_ENST00000440709.1_Missense_Mutation_p.F659L|CPT1B_ENST00000457250.1_Missense_Mutation_p.F706L|CPT1B_ENST00000312108.7_Missense_Mutation_p.F740L|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.F740L|CPT1B_ENST00000405237.3_Missense_Mutation_p.F740L	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	740					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGAGCTTGAGAACTTGCTGG	0.562000													23	18					6.44725e-10	7.85205e-10	1	1	0
LGR6	59352	broad.mit.edu	37	1	202278292	202278292	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202278292T>C	ENST00000367278.3	+	15	1483	c.1394T>C	c.(1393-1395)tTc>tCc	p.F465S	LGR6_ENST00000255432.7_Missense_Mutation_p.F413S|LGR6_ENST00000439764.2_Missense_Mutation_p.F326S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	465						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AAGGACAGTTTCCCAAAACTG	0.587000													25	43					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114393211	114393211	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:114393211C>A	ENST00000536271.1	-	4	1514	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	NXPE1_ENST00000251921.2_Missense_Mutation_p.D233Y|NXPE1_ENST00000424269.1_Missense_Mutation_p.D375Y					neurexophilin and PC-esterase domain family, member 1																		TCATGAAGATCAAAAAACTTC	0.303000													7	16					8.12818e-05	8.79784e-05	1	1	0
MUC17	140453	broad.mit.edu	37	7	100695217	100695217	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100695217G>T	ENST00000306151.4	+	9	13141	c.13077G>T	c.(13075-13077)caG>caT	p.Q4359H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4359						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)					GCAAGTGCCAGATGTCTCTAA	0.597000													65	115					3.57465e-26	5.05666e-26	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22919928	22919928	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:22919928C>A	ENST00000166244.3	+	6	1497	c.1425C>A	c.(1423-1425)atC>atA	p.I475I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	475	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTATGAGATCAAGTACTACG	0.652000													12	5					0.00010058	0.000108553	1	1	0
TMEM186	25880	broad.mit.edu	37	16	8890295	8890295	+	Missense_Mutation	SNP	C	C	A	rs145897590		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8890295C>A	ENST00000333050.6	-	2	189	c.156G>T	c.(154-156)gaG>gaT	p.E52D	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	52						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATTTCTCAGTCTCTGCGTTTG	0.537000													37	71					3.09479e-21	4.27043e-21	1	1	0
PIGA	5277	broad.mit.edu	37	X	15350106	15350106	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15350106C>A	ENST00000333590.4	-	0	31				PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_De_novo_Start_InFrame	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A						C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGATGTGTCCTCTATTACCT	0.408000													12	26					0.000978159	0.00102903	1	1	0
LIMCH1	22998	broad.mit.edu	37	4	41691559	41691559	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41691559G>T	ENST00000313860.7	+	25	3084	c.3030G>T	c.(3028-3030)aaG>aaT	p.K1010N	LIMCH1_ENST00000503057.1_Missense_Mutation_p.K1394N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.K843N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.K829N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K983N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.K817N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.K837N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K907N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K984N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K996N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1010					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TAAGTGGAAAGAAGCTGTGCT	0.388000													6	26					0.0215528	0.0219788	1	1	0
SELP	6403	broad.mit.edu	37	1	169582846	169582846	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169582846G>T	ENST00000263686.6	-	4	604	c.567C>A	c.(565-567)ttC>ttA	p.F189L	SELP_ENST00000367792.2_Missense_Mutation_p.F189L|SELP_ENST00000367794.2_Missense_Mutation_p.F189L|SELP_ENST00000367788.2_Missense_Mutation_p.F189L|SELP_ENST00000367791.2_Missense_Mutation_p.F189L|SELP_ENST00000367793.2_Missense_Mutation_p.F189L|SELP_ENST00000367786.2_Missense_Mutation_p.F189L|SELP_ENST00000458599.2_Missense_Mutation_p.F189L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	189	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTGGCCCATAGAATCCAGGGT	0.448000													4	77					0.00909568	0.00935351	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166897798	166897798	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166897798G>T	ENST00000423058.2	-	13	2375	c.2358C>A	c.(2356-2358)gcC>gcA	p.A786A	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A758A|SCN1A_ENST00000375405.3_Silent_p.A775A|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A786A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	786						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTGCTCCATGGCCATGAAAA	0.383000													19	42					1.33834e-09	1.61283e-09	1	1	0
ZNF571	51276	broad.mit.edu	37	19	38056098	38056098	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38056098C>A	ENST00000328550.2	-	4	1331	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R411I|ZNF571_ENST00000451802.2_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R411I|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTTTGATGTTG	0.373000													13	17					7.93312e-07	8.98086e-07	1	1	0
TLE4	7091	broad.mit.edu	37	9	82191078	82191078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:82191078G>T	ENST00000376520.4	+	4	1066	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	TLE4_ENST00000376544.3_Nonsense_Mutation_p.E80*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E80*|TLE4_ENST00000376552.2_Nonsense_Mutation_p.E80*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTGAATATAGAAATGCACAA	0.303000													23	41					3.28513e-13	4.19729e-13	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41447035	41447035	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41447035A>G	ENST00000400454.1	-	27	5294	c.4817T>C	c.(4816-4818)gTc>gCc	p.V1606A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1606					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCAGCAAGACCCCCACCAG	0.582000													23	28					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630331	122630331	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122630331C>A	ENST00000195173.4	-	21	3395	c.3092G>T	c.(3091-3093)aGa>aTa	p.R1031I	SEMA5B_ENST00000357599.3_Intron|SEMA5B_ENST00000451055.2_Intron			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	0					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTCCGGTTTCTTTTACCTGC	0.607000													9	17					1.12685e-05	1.24509e-05	1	1	0
CPED1	79974	broad.mit.edu	37	7	120876773	120876773	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120876773T>C	ENST00000310396.5	+	17	2528	c.2061T>C	c.(2059-2061)tgT>tgC	p.C687C	CPED1_ENST00000450913.2_Silent_p.C687C|CPED1_ENST00000423795.1_Silent_p.C467C	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TGCAGGATTGTGGTTTGCTGA	0.318000													15	51					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32404483	32404483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32404483C>A	ENST00000357033.4	-	33	4824	c.4618G>T	c.(4618-4620)Gaa>Taa	p.E1540*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1536*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1540	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCAAGTTCTTTGGGATTT	0.398000													35	67					6.90743e-12	8.65044e-12	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875344	247875344	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875344G>T	ENST00000302084.2	-	1	761	c.714C>A	c.(712-714)ttC>ttA	p.F238L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCACGTGGAGAAGGCTTTGC	0.522000													18	120					8.34094e-07	9.42356e-07	1	1	0
CCP110	9738	broad.mit.edu	37	16	19547870	19547870	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19547870A>G	ENST00000396212.2	+	5	1315	c.879A>G	c.(877-879)ccA>ccG	p.P293P	CCP110_ENST00000396208.2_Silent_p.P293P|CCP110_ENST00000381396.5_Silent_p.P293P	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	293					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTGACAAACCAAGCCTTAATA	0.413000													7	61					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085278	5085278	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5085278C>A	ENST00000399604.4	-	1	2414	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	ZNF594_ENST00000575779.1_Missense_Mutation_p.K758N			Q96JF6	ZN594_HUMAN	zinc finger protein 594	758					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						AATAAACTTTCTTTTCCTGGT	0.418000													55	124					2.01807e-28	2.86628e-28	1	1	0
NCAPG	64151	broad.mit.edu	37	4	17824682	17824682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17824682G>T	ENST00000251496.2	+	8	1371	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	399					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GATGACAAAAGAATTCATAGG	0.323000													11	22					0.000673444	0.000709932	1	1	0
C6orf211	79624	broad.mit.edu	37	6	151789606	151789606	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151789606T>G	ENST00000367294.3	+	5	946	c.687T>G	c.(685-687)ctT>ctG	p.L229L	C6orf211_ENST00000545879.1_Silent_p.L110L	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	229							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGGAACATCTTTGGTCATTGC	0.343000													20	36					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179426653	179426653	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179426653G>A	ENST00000263966.3	+	6	1184	c.713G>A	c.(712-714)aGc>aAc	p.S238N	USP13_ENST00000496897.1_Missense_Mutation_p.S173N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	238					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTCTTTGACAGCTCTGGGGGC	0.562000													4	104					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597215	136597215	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597215T>G	ENST00000531224.1	-	5	1700	c.1448A>C	c.(1447-1449)aAa>aCa	p.K483T	BCLAF1_ENST00000353331.4_Missense_Mutation_p.K481T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K481T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K483T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K481T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	483					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCAGAATTTTTGTCTTCTTC	0.358000													4	80					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171636	104171636	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104171636G>A	ENST00000374861.3	+	3	1828	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ZNF189_ENST00000339664.2_Missense_Mutation_p.R529Q|ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	529					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AATCTTATTCGACATCAGGGT	0.423000													11	38					0	0	1	0	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159819008	159819008	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159819008C>A	ENST00000497452.1	-	0	517																											CTCACAAGCTCTTTAGCCAAA	0.458000													16	41					1.3612e-06	1.53357e-06	1	1	0
HDX	139324	broad.mit.edu	37	X	83730395	83730395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83730395C>T	ENST00000297977.5	-	2	122	c.11G>A	c.(10-12)cGt>cAt	p.R4H	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.R4H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R4H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAATACAGAACGTAGATTCAT	0.269000													9	17					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	64004906	64004906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:64004906C>A	ENST00000370658.5	-	2	108	c.75G>T	c.(73-75)atG>atT	p.M25I	LGSN_ENST00000370657.4_Missense_Mutation_p.M25I	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	25					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTAATGTGTTCATGCTGTTGG	0.343000													12	29					0.00010058	0.000108553	1	1	0
ZNF680	340252	broad.mit.edu	37	7	63982573	63982573	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982573A>C	ENST00000309683.6	-	4	710	c.559T>G	c.(559-561)Tgt>Ggt	p.C187G	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GATTTGCCACATTCTTTACAT	0.294000													9	16					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2641599	2641599	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2641599C>T	ENST00000380843.4	-	5	384	c.354G>A	c.(352-354)ccG>ccA	p.P118P	IDH3B_ENST00000380851.5_Silent_p.P118P|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	118					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.P118P(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TATACTCCATCGGGGTATGAA	0.547000													24	35					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160724	38160724	+	Missense_Mutation	SNP	C	C	A	rs138038465		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38160724C>A	ENST00000358582.4	-	4	1074	c.326G>T	c.(325-327)aGa>aTa	p.R109I	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R109I	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTATGAATTCTTTGATGTCG	0.373000													30	61					1.68575e-08	1.99097e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179444820	179444820	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179444820C>T	ENST00000589042.1	-	318	67418	c.67194G>A	c.(67192-67194)agG>agA	p.R22398R	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.R13525R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R13458R|TTN_ENST00000342992.6_Silent_p.R19830R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.R13333R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.R20757R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20757	Ig-like 116.						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)			ACCAGGATTTCCTCTCTGCAT	0.438000													28	50					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565382	156565382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156565382G>A	ENST00000368232.4	-	8	868	c.736C>T	c.(736-738)Cga>Tga	p.R246*	GPATCH4_ENST00000438976.2_Nonsense_Mutation_p.R251*	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	246						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCGCCTTTTCTTC	0.458000													5	195					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478000													25	81					3.6726e-16	4.87283e-16	1	1	0
FBXW7	0	broad.mit.edu	37	4	153268137	153268137	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153268137C>T	ENST00000281708.4	-	4	1900	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R106Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R48Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R144Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	224					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGATGTAATTCGGCGTCGTTG	0.448000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								5	98					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121172	95121172	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95121172G>T	ENST00000377028.5	-	2	836	c.423C>A	c.(421-423)ttC>ttA	p.F141L	DCT_ENST00000446125.1_Missense_Mutation_p.F141L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	141					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGGCGCCCAAGAACTGCTCTC	0.567000													98	175					3.26951e-42	4.73095e-42	1	1	0
RIF1	55183	broad.mit.edu	37	2	152320659	152320659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152320659C>A	ENST00000243326.4	+	29	5108	c.4625C>A	c.(4624-4626)tCt>tAt	p.S1542Y	RIF1_ENST00000428287.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S1542Y			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1542					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAGAGCATCTCAGGGTTTG	0.428000													18	37					6.94344e-10	8.4399e-10	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72418358	72418358	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72418358C>T	ENST00000359373.5	-	12	2436	c.1585G>A	c.(1585-1587)Gct>Act	p.A529T	ARAP1_ENST00000393605.3_Missense_Mutation_p.A289T|ARAP1_ENST00000429686.1_Missense_Mutation_p.A284T|ARAP1_ENST00000455638.2_Missense_Mutation_p.A529T|ARAP1_ENST00000393609.3_Missense_Mutation_p.A529T|ARAP1_ENST00000334211.8_Missense_Mutation_p.A284T|ARAP1_ENST00000426523.1_Missense_Mutation_p.A284T			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	529	PH 2.				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						AGGGCCTCAGCGATGGCTCCC	0.632000													21	31					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38034732	38034732	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38034732G>A	ENST00000373062.3	-	13	1686	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	530					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	p.R530W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAGTTCTGCCGAACTCGTGTG	0.468000													33	45					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892722	74892722	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74892722C>A	ENST00000241436.4	+	13	2376	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S645Y|POLK_ENST00000352007.5_Missense_Mutation_p.S537Y|POLK_ENST00000508526.1_Missense_Mutation_p.S537Y	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	735					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCAAGCAAGTCTTTTAATATT	0.348000								DNA polymerases (catalytic subunits)					15	31					1.37285e-15	1.81125e-15	1	1	0
CACNB4	785	broad.mit.edu	37	2	152739811	152739811	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152739811C>T	ENST00000360283.6	-	2	376	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	CACNB4_ENST00000427385.1_Missense_Mutation_p.R56Q|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000539935.1_Missense_Mutation_p.R74Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.R27Q|CACNB4_ENST00000534999.1_Missense_Mutation_p.R40Q|CACNB4_ENST00000201943.5_Missense_Mutation_p.R74Q			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	74					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TCTCTCCTGTCGAATTGCTTC	0.498000													28	74					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33111120	33111120	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33111120T>G	ENST00000267068.3	-	2	209	c.45A>C	c.(43-45)gaA>gaC	p.E15D	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E15D|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	15										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCGTTACTTCTTCTCTAGGTC	0.313000													12	26					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42910525	42910525	+	Missense_Mutation	SNP	C	C	T	rs150484479	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42910525C>T	ENST00000244289.4	-	7	2429	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	718					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGGCAGATTCGTTCCCCTGT	0.647000													13	27					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176959355	176959355	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:176959355C>T	ENST00000392539.3	+	2	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	310					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCGTATCTCGGCTGCTACG	0.448000			T	NUP98	AML*								17	41					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50571158	50571158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50571158C>A	ENST00000547825.1	-	5	2332	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E497*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E496*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E498*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E354*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E658*|LIMA1_ENST00000341247.4_Nonsense_Mutation_p.E657*	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	657					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTTTAGATTCTTTGTTTTGC	0.423000													89	190					3.62344e-47	5.25254e-47	1	1	0
MKX	283078	broad.mit.edu	37	10	28023451	28023451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28023451C>A	ENST00000375790.5	-	5	1204	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	MKX_ENST00000419761.1_Nonsense_Mutation_p.E258*			Q8IYA7	MKX_HUMAN	mohawk homeobox	258					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCCTCAAATTCATTGGAGCTA	0.433000													37	71					5.43694e-19	7.38452e-19	1	1	0
BUD31	8896	broad.mit.edu	37	7	99013774	99013774	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99013774G>A	ENST00000403633.2	+	4	637	c.108G>A	c.(106-108)ccG>ccA	p.P36P	BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Silent_p.P7P|BUD31_ENST00000222969.5_Silent_p.P36P			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	36					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	p.P36P(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAACAGAACCGCATGAGGGAA	0.463000													5	69					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294345	156294345	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:156294345C>A	ENST00000311277.4	-	4	687	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	MAP9_ENST00000515654.1_Missense_Mutation_p.D142Y|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.D70Y	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	142					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTATTTTGTCTTTTTCAAAT	0.318000													12	18					3.07112e-06	3.42433e-06	1	1	0
PCDHGB3	0	broad.mit.edu	37	5	140752101	140752101	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140752101C>T	ENST00000576222.1	+	1	2271	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_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)			AATCTCCCTGCGCCTGCGATG	0.582000													20	32					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805396	68805396	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:68805396T>C	ENST00000355237.2	+	3	915	c.479T>C	c.(478-480)gTt>gCt	p.V160A	OCLN_ENST00000396442.2_Missense_Mutation_p.V160A|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.V160A	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	160	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTTACCAGTGTTATAAGATCT	0.438000													49	72					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563669	139563669	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139563669G>A	ENST00000358430.3	-	10	2281	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	683						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGGCTTAGTCGACGCCTTCCA	0.582000													10	59					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332692	22332692	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22332692T>G	ENST00000558896.1	+	0	499																											AGCATCTCTTTTTCAGGATGC	0.448000													22	74					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101606730	101606730	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101606730T>C	ENST00000370449.4	+	30	4272	c.4159T>C	c.(4159-4161)Ttc>Ctc	p.F1387L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1387	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCCCATCCTGTTCTCTGGAAG	0.537000													48	362					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984734	41984734	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41984734G>A	ENST00000333141.5	+	1	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	309										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AAGGCAGTACGAAGGTCACGT	0.532000													40	81					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G	rs149733733		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46682224A>G	ENST00000274793.7	-	5	639	c.443T>C	c.(442-444)gTt>gCt	p.V148A	PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A|PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	148					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368000													4	75					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938712	101938712	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101938712T>C	ENST00000348070.1	-	8	889	c.890A>G	c.(889-891)tAc>tGc	p.Y297C	PCSK6_ENST00000398181.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000331826.7_Missense_Mutation_p.Y132C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y297C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	298	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATGTCGATGTAGTTGGGTCT	0.607000													46	63					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209803245	209803245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209803245C>A	ENST00000391911.1	-	9	1358	c.969G>T	c.(967-969)gaG>gaT	p.E323D	LAMB3_ENST00000356082.4_Missense_Mutation_p.E323D|LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	323	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.E323D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTGACATGTCTCTGAGTGCC	0.557000													29	57					1.39806e-14	1.82523e-14	1	1	0
MLH3	27030	broad.mit.edu	37	14	75515305	75515305	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75515305T>G	ENST00000355774.2	-	2	1269	c.1054A>C	c.(1054-1056)Aaa>Caa	p.K352Q	MLH3_ENST00000238662.7_Missense_Mutation_p.K352Q|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.K352Q|MLH3_ENST00000556257.1_Missense_Mutation_p.K352Q	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	352					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAAATAATTTTTCTTGCTTT	0.363000								Mismatch excision repair (MMR)					18	19					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107722985	107722985	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107722985A>C	ENST00000445937.1	+	10	2021	c.1760A>C	c.(1759-1761)aAa>aCa	p.K587T	OXR1_ENST00000312046.6_Missense_Mutation_p.K580T|OXR1_ENST00000452423.2_Missense_Mutation_p.K77T|OXR1_ENST00000517566.2_Missense_Mutation_p.K587T|OXR1_ENST00000531443.1_Missense_Mutation_p.K587T|OXR1_ENST00000442977.2_Missense_Mutation_p.K588T	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	588					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAGATAAGAAACATGAATAT	0.358000													13	30					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150700	117150700	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117150700C>A	ENST00000369486.3	-	5	1851	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	IGSF3_ENST00000369483.1_Missense_Mutation_p.K362N|IGSF3_ENST00000318837.6_Missense_Mutation_p.K362N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	362	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTGGTAGATCTTCAGCACAA	0.542000													31	92					7.61001e-30	1.08524e-29	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118484688	118484688	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118484688C>T	ENST00000311085.8	+	18	3246	c.3166C>T	c.(3166-3168)Cgt>Tgt	p.R1056C	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACATACAAATCGTTTAGCAGT	0.403000													59	81					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1284285	1284285	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1284285T>C	ENST00000378888.5	-	1	445	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	DVL1_ENST00000378891.5_Missense_Mutation_p.Q54R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	54	DIX.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGAAGTCCTGGTCCATGGA	0.706000													11	9					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538603	38538603	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:38538603A>C	ENST00000399017.2	+	33	6834	c.4087A>C	c.(4087-4089)Aga>Cga	p.R1363R	TTC3_ENST00000354749.2_Silent_p.R1363R|TTC3_ENST00000355666.1_Silent_p.R1363R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1363					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCAGCTACCAAGATCAGTACC	0.468000													41	71					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094422	77094422	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77094422G>T	ENST00000328299.3	+	5	997	c.849G>T	c.(847-849)aaG>aaT	p.K283N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	283					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCACTGAAAAGAAAGTGTTTG	0.388000													28	49					7.41945e-09	8.8016e-09	1	1	0
GORAB	92344	broad.mit.edu	37	1	170508562	170508562	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170508562C>T	ENST00000367763.3	+	2	368	c.348C>T	c.(346-348)ctC>ctT	p.L116L	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Silent_p.L116L	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	116						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ATTTCACTCTCACCTCCCCCG	0.468000													23	53					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323486	124323486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:124323486C>T	ENST00000394339.2	+	2	1080	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SPRY1_ENST00000339241.1_Missense_Mutation_p.S247F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	247	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AATCCTTGCTCCTGTTCACAA	0.458000													41	79					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889613	23889613	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:23889613G>T	ENST00000532292.1	-	1	1562	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGTAGCCCAGCTTGTTGATG	0.428000													12	25					3.07112e-06	3.42433e-06	1	1	0
CHEK2P2	0	broad.mit.edu	37	15	20496745	20496745	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:20496745C>A	ENST00000555186.1	+	0	798					NR_038836.1																						TCTTTCTTTTCTTTGAGTCTG	0.383000													4	35					0.00909568	0.00935351	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87588271	87588271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87588271C>A	ENST00000320005.5	-	18	2238	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	731					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						cctttatcttcattttctttt	0.353000													13	26					2.27111e-07	2.60515e-07	1	1	0
IL12A	3592	broad.mit.edu	37	3	159708090	159708090	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159708090G>T	ENST00000305579.2	+	2	562	c.255G>T	c.(253-255)atG>atT	p.M85I	IL12A_ENST00000466512.1_Missense_Mutation_p.M85I|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.M85I	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	51					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCAGCAACATGCTCCAGAAGG	0.592000													31	53					1.45844e-13	1.87318e-13	1	1	0
MCPH1	79648	broad.mit.edu	37	8	6302632	6302632	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:6302632C>T	ENST00000344683.5	+	8	1465	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	MCPH1_ENST00000522905.1_Silent_p.C415C|MCPH1_ENST00000519480.1_Silent_p.C463C	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	463						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTTTTCCTGCGTTGGCAAAA	0.443000													23	40					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361794	122361794	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:122361794C>T	ENST00000288912.4	+	3	1499	c.645C>T	c.(643-645)tcC>tcT	p.S215S	WDR66_ENST00000397454.2_Silent_p.S215S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	215							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAGAGTATCCGACATCCAGT	0.517000													47	61					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45853653	45853653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:45853653G>T	ENST00000470402.1	+	8	1340	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*	KLC3_ENST00000391946.2_Nonsense_Mutation_p.E400*|KLC3_ENST00000585434.1_Nonsense_Mutation_p.E399*|ERCC2_ENST00000391945.4_3'UTR			Q6P597	KLC3_HUMAN	kinesin light chain 3	400						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTGTACAAAGAAATCCTCCA	0.562000													20	57					1.33834e-09	1.61283e-09	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95158103	95158103	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95158103T>G	ENST00000354268.4	+	5	611	c.537_splice	c.e5-1	p.L180_splice	SMARCAD1_ENST00000457823.2_Splice_Site_p.L180_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	180	CUE 1.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTTCTGTTAGTTGATTGAATC	0.318000													13	35					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77612494	77612494	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77612494A>C	ENST00000534064.1	-	18	2235	c.2201T>G	c.(2200-2202)cTt>cGt	p.L734R	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.L109R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	734					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTTACTATAAGTTGCAAAGC	0.423000													30	123					0	0	1	0	0
RNF11	26994	broad.mit.edu	37	1	51735705	51735705	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:51735705A>C	ENST00000242719.3	+	2	687	c.201A>C	c.(199-201)caA>caC	p.Q67H	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	67					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						AAGAGGAACAAATTAGGATAG	0.408000													30	40					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601590	61601590	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61601590G>A	ENST00000583023.1	+	2	178	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	KCNH6_ENST00000580652.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.R56Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R56Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	56	PAS.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGCTACTCCCGAGTGGAGGTG	0.617000													71	125					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870647	21870647	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870647G>T	ENST00000399982.2	-	18	3794	c.3730C>A	c.(3730-3732)Cat>Aat	p.H1244N	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.H1244N|CHD8_ENST00000430710.3_Missense_Mutation_p.H965N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1244	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAATTCGATGACATCGTGCC	0.418000													9	23					0.00448238	0.00465112	1	1	0
GPR89A	653519	broad.mit.edu	37	1	145765393	145765393	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145765393A>G	ENST00000313835.9	-	13	1280	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	GPR89A_ENST00000462900.2_Silent_p.I354I|GPR89A_ENST00000534502.1_Silent_p.I354I|GPR89A_ENST00000454423.3_Silent_p.I259I			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	379				I -> T (in Ref. 6; BAD96943).	intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATAGCAGGACAATGACATTGG	0.338000													37	165					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228858265	228858265	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228858265G>T	ENST00000392056.3	-	9	4752	c.4706C>A	c.(4705-4707)tCt>tAt	p.S1569Y	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1569						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATGGGAGAAGATGGCATGCT	0.423000													3	5					0.115264	0.116507	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136203	64136203	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64136203A>C	ENST00000395254.3	+	2	531	c.251A>C	c.(250-252)aAa>aCa	p.K84T	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.K84T|ZNF365_ENST00000410046.3_Missense_Mutation_p.K84T	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	49										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAACCGGGAAAATTGCAGAGC	0.458000													37	60					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280576	105280576	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105280576G>T	ENST00000327674.4	-	1	809	c.474C>A	c.(472-474)gtC>gtA	p.V158V	SERPINA7_ENST00000372563.1_Silent_p.V158V			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGTAGAAAAGACTTCAGTCT	0.438000													55	97					1.27102e-15	1.67768e-15	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220502517	220502517	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220502517G>A	ENST00000358055.3	+	17	3262	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	917	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAACAGCCGCTTCCTGGGG	0.622000													22	45					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656309	25656309	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656309A>G	ENST00000376436.1	-	4	2154	c.1615T>C	c.(1615-1617)Tca>Cca	p.S539P	ZNF337_ENST00000252979.5_Missense_Mutation_p.S539P|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.S507P					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTCTCCTGAGTGTGTCCTC	0.483000													27	58					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675274	73675274	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73675274G>T	ENST00000264448.6	+	8	1728	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K497N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K539N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	539	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAACCAAAAGACATTAGCAG	0.428000													31	44					1.08312e-15	1.43e-15	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108	PI3K-ABD.				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	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		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)			GTAGGCAACCGTGAAGAAAAG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	41					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196834764	196834764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196834764C>A	ENST00000312428.6	-	17	2213	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	705	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATAAAATTCTTCTGATTGC	0.338000													10	33					3.86212e-05	4.21111e-05	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94692488	94692488	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94692488A>C	ENST00000258526.4	+	27	4404	c.4155A>C	c.(4153-4155)aaA>aaC	p.K1385N	PLXNC1_ENST00000547057.1_Missense_Mutation_p.K432N|PLXNC1_ENST00000545312.1_Missense_Mutation_p.K124N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1385					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGCTATAAAATACTTTTTTG	0.378000													8	27					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202593	6202593	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6202593C>T	ENST00000262450.3	-	14	2215	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	706					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)		TTGAGGCCCTCCAGCTGGTAC	0.627000													34	61					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139160910	139160910	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139160910T>G	ENST00000395297.1	-	14	3471	c.3301A>C	c.(3301-3303)Aaa>Caa	p.K1101Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1101										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)			TTTTTAAATTTTTCTTTGGCC	0.368000										HNSCC(54;0.14)			5	22					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338985	5338985	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5338985G>A	ENST00000396872.2	+	9	1297	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R379H|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R365H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	379					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TCTGAGATCCGCCACTGCATC	0.642000													7	39					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56922551	56922551	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56922551A>C	ENST00000520220.2	+	13	1632	c.1358A>C	c.(1357-1359)gAc>gCc	p.D453A	LYN_ENST00000519728.1_Missense_Mutation_p.D474A	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	474	Protein kinase.				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)			GAGCTCTATGACATTATGAAA	0.502000													18	74					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155479	129155479	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129155479A>T	ENST00000429544.2	-	3	1203	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	MBD4_ENST00000503197.1_Missense_Mutation_p.F336L|MBD4_ENST00000249910.1_Missense_Mutation_p.F336L|MBD4_ENST00000507208.1_Missense_Mutation_p.F336L|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	336					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TGGCTGAACAAAATTTGTTTA	0.338000								Base excision repair (BER), DNA glycosylases					27	52					0	0	1	0	0
JMJD7-PLA2G4B	0	broad.mit.edu	37	15	42136685	42136685	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42136685T>G	ENST00000382448.4	+	17	1598	c.1589T>G	c.(1588-1590)aTt>aGt	p.I530S	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.I299S|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.I299S|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.I530S	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		299	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GTGGTAGCTATTATGGCCACT	0.572000													14	179					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19093207	19093207	+	Missense_Mutation	SNP	C	C	A	rs142253364		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19093207C>A	ENST00000380502.3	-	4	865	c.398G>T	c.(397-399)aGa>aTa	p.R133I	HAUS6_ENST00000380496.1_5'UTR	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	133					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAACAAATCTTGCAAAATG	0.284000													14	25					0.000151284	0.00016287	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107869523	107869523	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107869523G>A	ENST00000328300.6	+	36	3434	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	COL4A5_ENST00000361603.2_Missense_Mutation_p.D1064N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1064	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAGAAAGGCGACAAAGGTGA	0.488000									Alport syndrome with Diffuse Leiomyomatosis				22	57					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053528	157053528	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157053528A>G	ENST00000265007.6	-	5	2423	c.2082T>C	c.(2080-2082)acT>acC	p.T694T	SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Silent_p.T389T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	694					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)			TATAGTAAGAAGTTCCATTCA	0.408000													11	25					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687252	159687252	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:159687252A>C	ENST00000297267.9	+	21	5621	c.5421A>C	c.(5419-5421)aaA>aaC	p.K1807N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1744N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1807						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)		TGAGGTATAAAATCTACCTCA	0.443000													34	66					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454778	84454778	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454778G>T	ENST00000377084.2	-	1	1750	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTGAAAGGAGTTGGCAGG	0.542000													14	32					0.000219431	0.000235335	1	1	0
DPF2	5977	broad.mit.edu	37	11	65116351	65116351	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65116351C>T	ENST00000528416.1	+	10	1181	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	DPF2_ENST00000252268.4_Missense_Mutation_p.R364C|DPF2_ENST00000415073.2_Missense_Mutation_p.R166C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	350					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGACTGCGATCGTGGCTACCA	0.488000													23	40					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513189	123513189	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123513189G>A	ENST00000392770.2	-	3	1212	c.410C>T	c.(409-411)aCg>aTg	p.T137M	SCN3B_ENST00000299333.3_Missense_Mutation_p.T137M|SCN3B_ENST00000530277.1_Missense_Mutation_p.T137M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	137	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CAGCCGCGTCGTCTTCACAAA	0.592000													34	43					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114180	177114180	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177114180T>C	ENST00000280191.2	-	3	504	c.396A>G	c.(394-396)ggA>ggG	p.G132G	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	132					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AATGAATTGTTCCATGGATTA	0.284000													15	24					0	0	1	0	0
UGT1A10	0	broad.mit.edu	37	2	234545624	234545624	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234545624C>A	ENST00000344644.5	+	1	525	c.456C>A	c.(454-456)acC>acA	p.T152T	UGT1A10_ENST00000373445.1_Silent_p.T152T|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTTTGATACCTGTGGCTTAA	0.408000													39	91					7.61001e-30	1.08524e-29	1	1	0
GADL1	339896	broad.mit.edu	37	3	30885949	30885949	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30885949A>C	ENST00000454381.3	-	7	707	c.661T>G	c.(661-663)Tct>Gct	p.S221A	GADL1_ENST00000282538.5_Missense_Mutation_p.S221A			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	221					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTCTTCATAGAGTAATGACAC	0.428000													41	64					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135104832	135104832	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135104832T>G	ENST00000370695.4	+	11	1473	c.1438T>G	c.(1438-1440)Ttt>Gtt	p.F480V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.F428V|SLC9A6_ENST00000370698.3_Missense_Mutation_p.F448V	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	448					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGATCAAATTTTCAACACAT	0.378000													11	33					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56331252	56331252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56331252C>A	ENST00000331886.5	+	4	653	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	DGKA_ENST00000394147.1_Missense_Mutation_p.P67T|DGKA_ENST00000551156.1_Missense_Mutation_p.P67T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	67					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GGATAATGTTCCCAGACACCT	0.463000													7	84					0.000157383	0.000169016	1	1	0
ZNF530	348327	broad.mit.edu	37	19	58118092	58118092	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58118092T>G	ENST00000332854.6	+	3	1419	c.1199T>G	c.(1198-1200)tTt>tGt	p.F400C	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACCAAAGATTTCACACTGGA	0.423000													56	69					0	0	1	0	0
SDHAP3	0	broad.mit.edu	37	5	1589452	1589452	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1589452G>A	ENST00000436493.2	-	0	426																											CTTCCCCAGCGTTTGGTTTAA	0.353000													13	15					0	0	1	0	0
MBD5	0	broad.mit.edu	37	2	149226980	149226980	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149226980C>T	ENST00000407073.1	+	9	2465	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	MBD5_ENST00000404807.1_Missense_Mutation_p.P490S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	490						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGGTTCCACCCAGGTCACC	0.493000													11	67					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228221712	228221712	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228221712T>C	ENST00000353339.3	+	11	1349	c.908T>C	c.(907-909)cTa>cCa	p.L303P	MFF_ENST00000354503.6_Missense_Mutation_p.L179P|MFF_ENST00000304593.9_Missense_Mutation_p.L252P|MFF_ENST00000524634.1_Missense_Mutation_p.L50P|MFF_ENST00000349901.7_Missense_Mutation_p.L199P|MFF_ENST00000337110.7_Missense_Mutation_p.L204P|MFF_ENST00000409616.1_Missense_Mutation_p.L199P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.L303P|MFF_ENST00000409565.1_Missense_Mutation_p.L179P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	303						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ATAATCAAACTAAATAGACGT	0.308000													6	109					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505567	155505567	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155505567G>A	ENST00000302053.3	-	6	2388	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	770	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCTCTACGGAACCCTCAA	0.527000													38	81					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78383338	78383338	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:78383338G>A	ENST00000278550.7	-	31	5995	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CGTGTTACGCGATCAAAGTCC	0.517000													15	64					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32561054	32561054	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32561054A>G	ENST00000319778.6	-	12	2207	c.1905T>C	c.(1903-1905)ttT>ttC	p.F635F	EPC1_ENST00000263062.8_Silent_p.F658F|EPC1_ENST00000375110.2_Silent_p.F585F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	658					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CAGAAGCAGCAAACTGTGCAC	0.398000													15	29					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57958404	57958404	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57958404A>C	ENST00000325752.3	-	4	665	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	TUBD1_ENST00000394239.3_Missense_Mutation_p.C130G|TUBD1_ENST00000376094.4_Missense_Mutation_p.C130G|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.C130G|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.C130G|TUBD1_ENST00000591611.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	130					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AAAGAGTCACATTTCTCCACT	0.403000													53	85					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183845983	183845983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183845983C>A	ENST00000360982.2	-	14	2106	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	NCKAP1_ENST00000361354.3_Nonsense_Mutation_p.E444*	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCACGAGTTCATTGAGGACA	0.383000													23	39					3.62473e-10	4.42315e-10	1	1	0
SLC20A2	6575	broad.mit.edu	37	8	42329719	42329719	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42329719C>T	ENST00000342228.3	-	2	559	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A64T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A64T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	64					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTACTTTGGCGCCTAGTAAC	0.512000													90	180					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37890277	37890277	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37890277A>G	ENST00000199447.4	+	5	510	c.138A>G	c.(136-138)caA>caG	p.Q46Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.Q46Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	46	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAGCAATGCAACCTTTATTCA	0.343000													19	35					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87036850	87036850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87036850G>T	ENST00000370563.3	+	8	1315	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CLCA4_ENST00000263723.5_Nonsense_Mutation_p.E138*|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	425	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGTATTGATGAAGTGAAACA	0.433000													38	83					3.33393e-15	4.38315e-15	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1223					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGATGGGGCGCATGTCCTA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	29					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485190	56485190	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56485190T>C	ENST00000291971.3	+	7	2776		c.e7+2		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8							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)		GAGGCTGGTGTAAGTCCCAGA	0.458000													5	86					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597386	36597386	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36597386G>T	ENST00000299440.5	+	2	2644	c.2532G>T	c.(2530-2532)atG>atT	p.M844I		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	844					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAAGATGAACCTCAAAC	0.468000									Familial Hemophagocytic Lymphohistiocytosis				17	57					1.5739e-10	1.93697e-10	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182339943	182339943	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339943A>G	ENST00000397033.2	+	4	914	c.484A>G	c.(484-486)Act>Gct	p.T162A	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.T162A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	162					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAGCTCCCCACTGGTGGTTG	0.373000													29	49					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101031086	101031086	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031086C>T	ENST00000284382.4	-	5	647	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	CERS3_ENST00000538112.2_Missense_Mutation_p.R75Q|CERS3_ENST00000394113.1_Missense_Mutation_p.R75Q|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGTAACCTTTCGAACTGTCTC	0.308000													16	33					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390793	101390793	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101390793C>A	ENST00000461821.1	-	2	778	c.575G>T	c.(574-576)aGa>aTa	p.R192I	ZBTB11_ENST00000312938.4_Intron			O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTTACAAATCTTAAAGCTGA	0.378000													4	29					0.00909568	0.00935351	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52981592	52981592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981592C>A	ENST00000371544.3	-	3	1115	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E285*|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E285*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	285					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGATCTCTTTCTAAGCGTTCT	0.393000													25	45					1.42536e-11	1.77514e-11	1	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71491678	71491678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:71491678G>T	ENST00000265382.3	+	6	591	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.E96*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	96	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATATTTCAGAGAACTTTTTGG	0.383000													11	51					0.000673444	0.000709932	1	1	0
FGD4	121512	broad.mit.edu	37	12	32751469	32751469	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32751469A>G	ENST00000427716.2	+	5	1063	c.639A>G	c.(637-639)gaA>gaG	p.E213E	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000525053.1_Silent_p.E325E|FGD4_ENST00000531134.1_Silent_p.E298E|FGD4_ENST00000534526.2_Silent_p.E350E|FGD4_ENST00000546442.1_Silent_p.E120E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	213	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGCCAATGAACTTTTGCTTA	0.308000													21	37					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415733	42415733	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42415733T>C	ENST00000328823.9	+	3	270	c.239T>C	c.(238-240)aTg>aCg	p.M80T	WBP2NL_ENST00000543212.1_Missense_Mutation_p.M6T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	80	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTGATCTGATGACGAACCTC	0.408000													7	119					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167414852	167414852	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167414852G>A	ENST00000392750.2	-	5	630	c.213C>T	c.(211-213)agC>agT	p.S71S	PDCD10_ENST00000461494.1_Silent_p.S71S|PDCD10_ENST00000497056.2_Silent_p.S71S|PDCD10_ENST00000473645.2_Silent_p.S71S|PDCD10_ENST00000492396.1_Silent_p.S8S|PDCD10_ENST00000470131.1_Silent_p.S71S|PDCD10_ENST00000487947.2_Silent_p.S71S|PDCD10_ENST00000471885.1_Silent_p.S71S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	71					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TAACTTCCACGCTTTTTTTCT	0.333000													20	31					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816240	90816240	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90816240C>T	ENST00000394980.1	+	2	437	c.118C>T	c.(118-120)Cct>Tct	p.P40S	MMRN1_ENST00000264790.2_Missense_Mutation_p.P40S|MMRN1_ENST00000394981.1_Missense_Mutation_p.P40S			Q13201	MMRN1_HUMAN	multimerin 1	40					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAGACTATGCCTTCTGCTTC	0.448000													23	47					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30034962	30034962	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:30034962C>A	ENST00000346128.6	-	9	1508	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	TJP1_ENST00000356107.6_Missense_Mutation_p.R345I|TJP1_ENST00000400011.2_Missense_Mutation_p.R349I|TJP1_ENST00000545208.2_Missense_Mutation_p.R345I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	345					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTAGAAATTCTCTCTTCATC	0.373000													14	33					1.05317e-09	1.27574e-09	1	1	0
SMS	6611	broad.mit.edu	37	X	22003283	22003283	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22003283G>A	ENST00000404933.2	+	9	1139	c.887G>A	c.(886-888)aGa>aAa	p.R296K	SMS_ENST00000415881.2_Missense_Mutation_p.R200K|SMS_ENST00000379404.1_Missense_Mutation_p.R243K	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	296					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GAGTTTCTCAGACTGATTCTT	0.348000													14	35					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492183	107492183	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:107492183T>G	ENST00000415149.2	+	11	1942	c.1615T>G	c.(1615-1617)Tca>Gca	p.S539A	BBX_ENST00000406780.1_Missense_Mutation_p.S539A|BBX_ENST00000402543.1_Missense_Mutation_p.S539A|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.S539A	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	539	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGAAAATGTCAAAGGAGAA	0.443000													29	53					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43378957	43378957	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43378957G>T	ENST00000372861.3	+	2	602	c.471G>T	c.(469-471)gaG>gaT	p.E157D		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	157						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGTCCACGGAGAACCTGGTGG	0.701000													15	8					1.49906e-05	1.64923e-05	1	1	0
FAM162A	26355	broad.mit.edu	37	3	122121665	122121665	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121665C>T	ENST00000477892.1	+	2	177	c.93C>T	c.(91-93)agC>agT	p.S31S	FAM162A_ENST00000232125.5_Silent_p.S21S|FAM162A_ENST00000469967.1_Silent_p.S31S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	31						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTACCAGAAGCTCTGATTTGA	0.358000													15	35					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027561	161027561	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161027561G>A	ENST00000447678.1	-	18	2853	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	LPA_ENST00000316300.5_Silent_p.V911V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3419	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGAGGCGCGACGGCAGTCC	0.542000													53	98					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAGCCTGTTTCGAGAAGACAC	0.478000													32	39					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64743963	64743963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743963C>A	ENST00000374811.3	-	10	1313	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E408*|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E366*|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	425						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACGATCAGTTCAACGGTCCAT	0.597000													10	21					6.42651e-13	8.16824e-13	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126682453	126682453	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126682453G>A	ENST00000309035.6	-	6	2632	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	CTBP2_ENST00000411419.2_Silent_p.A294A|CTBP2_ENST00000531469.1_Silent_p.A294A|CTBP2_ENST00000337195.5_Silent_p.A294A|CTBP2_ENST00000494626.2_Silent_p.A294A|CTBP2_ENST00000334808.6_Silent_p.A362A	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	294					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCACGTCGAGGGCTGCCCCTC	0.637000													47	119					0	0	1	0	0
DUSP11	8446	broad.mit.edu	37	2	74000942	74000942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74000942C>A	ENST00000443070.1	-	4	564	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	DUSP11_ENST00000377706.4_Nonsense_Mutation_p.E140*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000272444.3_Nonsense_Mutation_p.E187*			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	140	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTTTATTTTCTTTCAAAAAC	0.328000													39	62					2.6416e-12	3.32596e-12	1	1	0
LGALSL	29094	broad.mit.edu	37	2	64685453	64685453	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64685453T>G	ENST00000238875.5	+	5	864	c.410T>G	c.(409-411)gTg>gGg	p.V137G	LGALSL_ENST00000409537.2_Missense_Mutation_p.C78G	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	137	Galectin.					intracellular	sugar binding										CGTTTCCGAGTGTTTGTGGAT	0.388000													22	159					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	484					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333000													4	27					0.150653	0.151842	1	1	0
OPA1	4976	broad.mit.edu	37	3	193332780	193332780	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193332780C>T	ENST00000361510.2	+	2	535	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.R101C|OPA1_ENST00000392438.3_Missense_Mutation_p.R101C|OPA1_ENST00000361150.2_Missense_Mutation_p.R101C|OPA1_ENST00000361908.3_Missense_Mutation_p.R101C|OPA1_ENST00000361715.2_Missense_Mutation_p.R101C	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	101					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTTAAAACTTCGCTATCTCAT	0.413000													18	34					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91470748	91470748	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91470748G>A	ENST00000416354.1	+	6	593	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KIF20B_ENST00000394289.2_Missense_Mutation_p.R174Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.R174Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R174Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	174	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTCTGCCTCGAACTTTGAAT	0.328000													6	21					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20486022	20486022	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20486022C>G	ENST00000331079.6	+	13	1494	c.1277C>G	c.(1276-1278)aCg>aGg	p.T426R	PRMT3_ENST00000437750.2_Missense_Mutation_p.T364R	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	426							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GATTGCCATACGACGTCTATC	0.318000													11	28					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	13982972	13982972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13982972G>T	ENST00000217246.4	+	2	480	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.E29*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	29										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAGACGCAAAGAATACCTAAG	0.358000													10	48					0.000673444	0.000709932	1	1	0
VAC14	55697	broad.mit.edu	37	16	70765467	70765467	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70765467A>G	ENST00000261776.5	-	14	1852	c.1592T>C	c.(1591-1593)aTg>aCg	p.M531T		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	531					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AAGGTTGATCATGAACTTATA	0.468000													41	69					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796740	93796740	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93796740A>G	ENST00000315765.9	+	3	490	c.482A>G	c.(481-483)aAc>aGc	p.N161S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	161	Plastocyanin-like 1.				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)				CCTGGGAAAAACTACACCTAC	0.458000													17	34					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911394	53911394	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53911394T>G	ENST00000396408.3	+	4	703	c.586T>G	c.(586-588)Ttc>Gtc	p.F196V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGGAATAATTTCCTGAATTC	0.373000													9	71					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70170513	70170513	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70170513C>T	ENST00000253925.7	+	3	485	c.270C>T	c.(268-270)ttC>ttT	p.F90F	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.F90F	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	90					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTAGGAGTTCGCAGCACTTA	0.403000													48	70					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555868	41555868	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555868T>G	ENST00000378142.4	+	3	1266	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F328V	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	328						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTCATGTATTTCCTGATGTC	0.363000													5	39					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1782331	1782331	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1782331C>A	ENST00000254719.5	+	9	845	c.735C>A	c.(733-735)ttC>ttA	p.F245L	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	245					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGGACAAGTTCTTTCCTCTTA	0.557000								Nucleotide excision repair (NER)					16	31					1.01871e-10	1.25646e-10	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131201347	131201347	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131201347C>A	ENST00000337057.3	-	13	2015		c.e13-1		EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530757.1_Splice_Site|EPB41L2_ENST00000531410.1_Splice_Site|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGGAATTTTTCTGTGAAATTA	0.358000													8	10					0.27861	0.279356	1	1	0
GLYAT	10249	broad.mit.edu	37	11	58478199	58478199	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58478199G>A	ENST00000344743.3	-	5	493	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	118					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATGGCTGCAAGATTTTGTATA	0.408000													35	63					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364033	22364033	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364033A>C	ENST00000397121.2	-	3	803	c.486T>G	c.(484-486)atT>atG	p.I162M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCTAGTATAAATTCTTTCAT	0.338000													20	42					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147295	129147295	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129147295G>T	ENST00000540052.1	+	3	591	c.547G>T	c.(547-549)Gtc>Ttc	p.V183F	BCORL1_ENST00000303743.5_Missense_Mutation_p.V183F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V183F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V183F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	183					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGAACTGGAGTCCCTGTGGA	0.577000													14	140					4.3838e-07	4.998e-07	1	1	0
GJB1	2705	broad.mit.edu	37	X	70444064	70444064	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70444064C>T	ENST00000374022.3	+	2	602	c.507C>T	c.(505-507)gaC>gaT	p.D169D	GJB1_ENST00000361726.6_Silent_p.D169D|GJB1_ENST00000374029.1_Silent_p.D169D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	169					cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TCAAGTGCGACGTCTACCCCT	0.562000													5	24					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910876	14910876	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14910876A>G	ENST00000248073.2	-	1	147	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	25					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGAGAATGAACTGAATCTCT	0.483000													39	81					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121745903	121745903	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121745903C>T	ENST00000452319.1	+	14	2473	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	GLI2_ENST00000361492.4_Missense_Mutation_p.R805C|GLI2_ENST00000314490.11_Missense_Mutation_p.R477C			P10070	GLI2_HUMAN	GLI family zinc finger 2	805	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTGCAGGAGCGCCGCGACAG	0.736000													7	10					0	0	1	0	0
RP11-108K14.8	0	broad.mit.edu	37	10	135215056	135215056	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135215056G>A	ENST00000468317.2	+	8	805	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MTG1_ENST00000317502.6_Missense_Mutation_p.E179K|MTG1_ENST00000477902.2_Missense_Mutation_p.E138K																							GGTGGGTGGCGAGCCTGGGAT	0.542000													17	34					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560590	210560590	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210560590T>G	ENST00000360351.4	+	7	4202	c.3696T>G	c.(3694-3696)atT>atG	p.I1232M	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1228M|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1232					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGCAGAGATTCAGAGTGAGG	0.478000													24	36					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753677	19753677	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19753677C>T	ENST00000400113.3	-	2	134	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	10					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G10G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCCTGCCTGCCCCACGTGGA	0.463000													27	51					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126180490	126180490	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126180490A>G	ENST00000389709.3	-	6	2068	c.2015T>C	c.(2014-2016)gTt>gCt	p.V672A	ZXDC_ENST00000336332.5_Missense_Mutation_p.V672A	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	672	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGCTGCCCAACTGCTCCTGG	0.642000													32	60					0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179306381	179306381	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179306381G>T	ENST00000325748.4	-	6	765	c.565C>A	c.(565-567)Ctt>Att	p.L189I	PRKRA_ENST00000438687.3_Missense_Mutation_p.L76I|PRKRA_ENST00000432031.2_Missense_Mutation_p.L178I|PRKRA_ENST00000487082.1_Missense_Mutation_p.L164I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	189	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATTTGGCAAGAAATTTCTCA	0.348000													8	70					0.000157383	0.000169016	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22063775	22063775	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22063775G>T	ENST00000261200.4	-	7	1148	c.1149C>A	c.(1147-1149)ctC>ctA	p.L383L	ABCC9_ENST00000345162.2_Silent_p.L383L|ABCC9_ENST00000261201.4_Silent_p.L383L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	383	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGCTCCACGGAGGTTAATGC	0.408000													22	53					7.87624e-14	1.01695e-13	1	1	0
LTN1	26046	broad.mit.edu	37	21	30358482	30358482	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30358482C>A	ENST00000361371.4	-	3	473	c.323G>T	c.(322-324)aGa>aTa	p.R108I	LTN1_ENST00000389195.2_Missense_Mutation_p.R154I|LTN1_ENST00000389194.2_Missense_Mutation_p.R154I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	108							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAAAAAATTCTTGGCCAATA	0.318000													10	10					2.52707e-12	3.18246e-12	1	1	0
MTMR10	54893	broad.mit.edu	37	15	31251300	31251300	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31251300T>C	ENST00000435680.1	-	8	880	c.783A>G	c.(781-783)ccA>ccG	p.P261P	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.P179P|MTMR10_ENST00000314404.8_Silent_p.P13P	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	261	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTAAAGAACTTGGCACTACAA	0.393000													4	8					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125499514	125499514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125499514G>T	ENST00000303545.3	+	2	1996	c.1624G>T	c.(1624-1626)Gaa>Taa	p.E542*		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	542					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCGCTTACAAGAAATAAATGA	0.373000													14	36					1.52009e-12	1.92208e-12	1	1	0
SLC25A18	83733	broad.mit.edu	37	22	18064149	18064149	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:18064149C>T	ENST00000327451.5	+	5	707	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57W	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	57						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GAAGACGGCTCGGGCGGAGGG	0.652000													45	98					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44073297	44073297	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44073297G>A	ENST00000272286.2	+	3	259	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	57	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCCACAGGTGGACCTGGCCTC	0.547000													28	35					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2210083	2210083	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2210083T>G	ENST00000511885.2	-	5	698	c.345A>C	c.(343-345)tcA>tcC	p.S115S	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.S115S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	115					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTAAACAACTTGAAAGAGTCA	0.398000								DNA polymerases (catalytic subunits)					28	48					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199424	100199424	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100199424G>A	ENST00000317233.4	-	16	2864	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	AFF3_ENST00000409236.1_Missense_Mutation_p.R877W|AFF3_ENST00000409579.1_Missense_Mutation_p.R902W|AFF3_ENST00000356421.2_Missense_Mutation_p.R902W	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	877					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATGGGCGACCGAAGCATTTTT	0.403000													22	37					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21819302	21819302	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21819302G>T	ENST00000319481.3	-	16	1532	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Silent_p.I60I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	442					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCTGACAAGATTTTGTTTT	0.443000													16	24					2.23348e-06	2.50077e-06	1	1	0
FAM161A	84140	broad.mit.edu	37	2	62063239	62063239	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62063239C>T	ENST00000404929.1	-	5	1768	c.1757G>A	c.(1756-1758)aGc>aAc	p.S586N	FAM161A_ENST00000405894.3_Missense_Mutation_p.S530N	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	540					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTTTTCGCTCTTTCTAAA	0.308000													4	107					0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107252909	107252909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:107252909C>T	ENST00000394701.4	+	5	585	c.544C>T	c.(544-546)Cga>Tga	p.R182*	AIMP1_ENST00000358008.3_Nonsense_Mutation_p.R158*|AIMP1_ENST00000442366.1_Nonsense_Mutation_p.R158*	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	158	Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.|tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TCTGGATCTTCGAATTGGTTG	0.413000													55	97					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978295	11978295	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11978295G>T	ENST00000304030.2	+	3	611	c.411G>T	c.(409-411)atG>atT	p.M137I	ZNF439_ENST00000455282.1_Start_Codon_SNP_p.M1I|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTCTAATATGAACATCAGAG	0.423000													68	134					1.08241e-25	1.52617e-25	1	1	0
WWP1	11059	broad.mit.edu	37	8	87460450	87460450	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87460450T>G	ENST00000517970.1	+	19	2379	c.2072T>G	c.(2071-2073)cTt>cGt	p.L691R	WWP1_ENST00000265428.4_Missense_Mutation_p.L691R|WWP1_ENST00000341922.2_Missense_Mutation_p.L561R|WWP1_ENST00000349423.2_Missense_Mutation_p.L473R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	691	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274000													4	21					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2778221	2778221	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2778221A>C	ENST00000320876.6	+	44	5869	c.5531A>C	c.(5530-5532)aAt>aCt	p.N1844T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1844T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1844					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGCGGCCAATCATTATAGA	0.279000													7	8					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47773050	47773050	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47773050C>T	ENST00000359568.5	+	10	1596	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	497	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGCACCTCTCGTGTGGAAGA	0.488000													19	39					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638913	32638913	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32638913T>G	ENST00000286827.3	-	5	847	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	TIAM1_ENST00000541036.1_Missense_Mutation_p.M126L|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	126					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGTCTGGCATGCTCTGCACA	0.552000													44	60					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40366764G>A	ENST00000406785.1	-	7	2403	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F774F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1_ENST00000542024.1_Silent_p.F738F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	774					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)	TCACGTAATCGAAACAGGAGG	0.502000													46	86					0	0	1	0	0
CRABP1	1381	broad.mit.edu	37	15	78633519	78633519	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78633519G>A	ENST00000299529.6	+	2	310	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	69					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	CTTCAAGGTCGGAGAAGGCTT	0.637000													5	14					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61118857	61118857	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61118857G>A	ENST00000295025.7	+	2	370	c.50G>A	c.(49-51)aGg>aAg	p.R17K	REL_ENST00000394479.3_Missense_Mutation_p.R17K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	17	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GAACAACCCAGGCAGAGGGGA	0.418000			A		Hodgkin Lymphoma								31	44					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89934069	89934069	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89934069T>G	ENST00000389297.4	+	19	2451	c.2200T>G	c.(2200-2202)Tta>Gta	p.L734V	C7orf63_ENST00000316089.8_Missense_Mutation_p.L688V|C7orf63_ENST00000497910.1_Missense_Mutation_p.L716V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	734							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTGAAAATTTACCTGGCCT	0.264000													14	19					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336725	126336725	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126336725C>T	ENST00000394329.3	+	5	6620	c.6607C>T	c.(6607-6609)Cgg>Tgg	p.R2203W	FAT4_ENST00000335110.5_Missense_Mutation_p.R501W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2203	Cadherin 21.				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						TCAGGAATTTCGGATAGACTC	0.443000													42	94					0	0	1	0	0
SFR1	119392	broad.mit.edu	37	10	105885398	105885398	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105885398A>G	ENST00000336358.5	+	3	1379	c.860A>G	c.(859-861)cAc>cGc	p.H287R	SFR1_ENST00000369729.3_Missense_Mutation_p.H212R|SFR1_ENST00000369727.3_Missense_Mutation_p.H225R			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	225					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										TTGATAGACCACTATGGGTTA	0.353000													12	29					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019607	123019607	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123019607C>A	ENST00000371199.3	+	2	394	c.95C>A	c.(94-96)aCt>aAt	p.T32N	XIAP_ENST00000355640.3_Missense_Mutation_p.T32N|XIAP_ENST00000434753.3_Missense_Mutation_p.T32N|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	32					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGATTAAAAACTTTTGCTAAT	0.378000									X-linked Lymphoproliferative syndrome				47	81					6.1207e-33	8.77752e-33	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34006219	34006219	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34006219A>C	ENST00000373381.4	-	60	9713	c.9537T>G	c.(9535-9537)acT>acG	p.T3179T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3155	Sushi 25.					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)				GGCAGGCATAAGTCACACTTG	0.597000													38	65					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339755	50339755	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50339755G>A	ENST00000376020.2	-	9	4447	c.4422C>T	c.(4420-4422)ctC>ctT	p.L1474L	SHROOM4_ENST00000460112.3_Silent_p.L1358L|SHROOM4_ENST00000289292.7_Silent_p.L1474L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1474	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCTTCCCCGAGCTTGATCT	0.522000													14	36					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36108227	36108227	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36108227C>T	ENST00000203166.5	+	8	619	c.594C>T	c.(592-594)ttC>ttT	p.F198F	HAUS5_ENST00000379045.2_Silent_p.F198F	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	198					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGGCCCAGTTCCTGCAGAACC	0.632000													30	51					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187120134	187120134	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187120134G>T	ENST00000378802.4	+	6	1002	c.698G>T	c.(697-699)aGa>aTa	p.R233I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	233					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATATTTCGAAGAATAAAGATG	0.373000													13	38					0.00316338	0.00328853	1	1	0
FCRLB	127943	broad.mit.edu	37	1	161697300	161697300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161697300G>T	ENST00000367948.2	+	8	1344	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E377*|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	377						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TCTGCTCCGAGAAATGCAGCT	0.677000													30	59					8.16721e-17	1.09032e-16	1	1	0
ZNF391	346157	broad.mit.edu	37	6	27369039	27369039	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27369039G>T	ENST00000244576.4	+	3	1435	c.890G>T	c.(889-891)aGa>aTa	p.R297I		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	297					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						GAACATCAGAGAATCCACAGT	0.478000													21	34					1.87028e-06	2.10206e-06	1	1	0
ACAD8	27034	broad.mit.edu	37	11	134127029	134127029	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134127029C>T	ENST00000281182.4	+	3	364	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000537423.1_Silent_p.F9F|ACAD8_ENST00000374752.4_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	86					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		AGCTAGGCTTCGGAGGGGTCT	0.547000													24	62					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130278	34130278	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34130278G>A	ENST00000389232.4	+	89	12167	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4028K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4033					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGACGCATCGAGATCATGGG	0.488000													45	84					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7086403	7086403	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7086403G>A	ENST00000261407.4	-	12	1454	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	457					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATGTGGCCAAGGAAATAGATG	0.443000													23	40					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177113898	177113898	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177113898C>A	ENST00000515234.1	-	3	1644	c.49G>T	c.(49-51)Gat>Tat	p.D17Y	SPATA4_ENST00000280191.2_Missense_Mutation_p.D190Y			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	190					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTAATGTTATCTTTAATAGAC	0.368000													7	23					0.00198382	0.00207034	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:19553564G>A	ENST00000409832.3	+	1	200	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607000													88	603					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588844	119588844	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119588844G>A	ENST00000267260.4	+	10	1487	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	367	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACCGTGTCTGGAATGTGCCGA	0.557000													12	20					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965024	135965024	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135965024A>G	ENST00000401392.1	-	19	3195	c.2983T>C	c.(2983-2985)Tca>Cca	p.S995P	ZRANB3_ENST00000536680.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.S997P			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	997						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGGAGCTTTGAAGTCCAGGTA	0.378000													13	123					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26978793	26978793	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:26978793T>G	ENST00000307301.7	-	2	289	c.248A>C	c.(247-249)aAa>aCa	p.K83T	MRPL39_ENST00000352957.4_Missense_Mutation_p.K83T	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	83						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGAAATGTTTTTATTCATCAC	0.433000													10	25					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356596	90356596	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90356596T>G	ENST00000371939.3	+	8	940	c.626T>G	c.(625-627)tTc>tGc	p.F209C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTTAAAAAATTCATTGGTTCA	0.308000													13	47					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85696959	85696959	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85696959T>C	ENST00000253458.7	+	11	2559	c.2383T>C	c.(2383-2385)Ttt>Ctt	p.F795L	GSE1_ENST00000393243.1_Missense_Mutation_p.F722L|GSE1_ENST00000405402.2_Missense_Mutation_p.F691L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GAAGCTAGAGTTTTTGCAACT	0.547000													78	124					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39055483	39055483	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39055483G>A	ENST00000295373.6	-	14	2764	c.2639_splice	c.e14+1	p.R880_splice		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	880	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTAGCTTACCGATTACTACGT	0.388000													10	23					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703308	1703308	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1703308C>T	ENST00000305513.7	-	5	1547	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	460	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGGGATGGCCTGTAAACTGG	0.502000													26	37					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086730	101086730	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101086730T>G	ENST00000394095.2	-	8	975	c.922A>C	c.(922-924)Aat>Cat	p.N308H	SENP7_ENST00000394094.2_Missense_Mutation_p.N243H|SENP7_ENST00000394091.1_Missense_Mutation_p.N144H|SENP7_ENST00000314261.7_Missense_Mutation_p.N242H|SENP7_ENST00000348610.3_Missense_Mutation_p.N275H|SENP7_ENST00000358203.3_Missense_Mutation_p.N144H	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	308					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTAAATTATTTCTAAGCCTT	0.328000													35	43					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95201893	95201893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95201893C>T	ENST00000354268.4	+	20	2642	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R859*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R427*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	857					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGGAAAATTTCGAGTTTTAGG	0.308000													41	59					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96650352	96650352	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:96650352C>A	ENST00000222598.4	-	3	1039	c.566G>T	c.(565-567)aGa>aTa	p.R189I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	189					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GATCTTGGATCTTTTGTTCTG	0.587000													11	26					1.61879e-10	1.99092e-10	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138656879	138656879	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138656879C>T	ENST00000298480.5	+	12	1112	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	KCNT1_ENST00000490355.2_Silent_p.F327F|KCNT1_ENST00000487664.1_Silent_p.F301F|KCNT1_ENST00000263604.3_Silent_p.F327F|KCNT1_ENST00000486577.2_Silent_p.F307F|KCNT1_ENST00000488444.2_Silent_p.F327F|KCNT1_ENST00000491806.2_Silent_p.F313F|KCNT1_ENST00000371757.2_Silent_p.F346F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	346						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTGCAGTTCGAGGAGCTCG	0.632000													10	17					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241692	34241692	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34241692C>T	ENST00000374114.3	-	3	1816	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R518Q|RBM12_ENST00000359646.1_Missense_Mutation_p.R518Q	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	518						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGTCTTTTTCGAATCATATC	0.398000													61	115					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329702	54329702	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54329702A>C	ENST00000231009.2	+	5	813	c.743A>C	c.(742-744)aAg>aCg	p.K248T	CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	248	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGTTAACCAAGAAATACCAG	0.423000													8	38					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11735151	11735151	+	Silent	SNP	C	C	T	rs141637184	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11735151C>T	ENST00000235310.3	-	10	1510	c.582G>A	c.(580-582)tcG>tcA	p.S194S	MAD2L2_ENST00000376669.5_Silent_p.S207S|MAD2L2_ENST00000376672.1_Silent_p.S207S|MAD2L2_ENST00000376667.3_Silent_p.S194S|MAD2L2_ENST00000376692.4_Silent_p.S194S			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	194	HORMA.|Mediates interaction with ipaB.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAAATGTCCGACGTCATGG	0.552000								DNA polymerases (catalytic subunits)					11	45					0	0	1	0	0
C11orf54	28970	broad.mit.edu	37	11	93487178	93487178	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93487178T>G	ENST00000528288.1	+	5	540	c.305T>G	c.(304-306)tTt>tGt	p.F102C	C11orf54_ENST00000540113.1_Missense_Mutation_p.F83C|C11orf54_ENST00000528099.1_Missense_Mutation_p.F102C|C11orf54_ENST00000354421.3_Missense_Mutation_p.F102C|C11orf54_ENST00000331239.4_Missense_Mutation_p.F102C	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	102						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAGGTCCATTTCAGACTCTC	0.338000													8	99					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388073	56388073	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56388073T>C	ENST00000423270.1	-	9	1852	c.1853A>G	c.(1852-1854)aAt>aGt	p.N618S	RFX7_ENST00000422057.1_Missense_Mutation_p.N521S|RFX7_ENST00000317318.6_Missense_Mutation_p.N618S|RFX7_ENST00000559447.2_Missense_Mutation_p.N521S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	521					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCTTTGATTATTGCCTGT	0.413000													21	18					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202711856	202711856	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202711856G>A	ENST00000367265.3	-	17	3565	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R837C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	801					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTGACTAGGCGAAGGTGTCGC	0.443000													38	79					0	0	1	0	0
NPY4R	0	broad.mit.edu	37	10	47086821	47086821	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47086821A>C	ENST00000374312.1	+	3	457	c.38A>C	c.(37-39)aAa>aCa	p.K13T	NPY4R_ENST00000395716.1_Missense_Mutation_p.K13T	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CTGCTCCCAAAATCTCCACAA	0.493000													22	80					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569282	55569282	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55569282G>T	ENST00000395438.1	-	36	4972	c.4578C>A	c.(4576-4578)aaC>aaA	p.N1526K	PCDH15_ENST00000395442.1_Missense_Mutation_p.P375T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P444T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1510T|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137K|PCDH15_ENST00000395446.1_Missense_Mutation_p.P706T|PCDH15_ENST00000373965.2_Intron	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAACCTTTGGTTTTTTAATT	0.413000										HNSCC(58;0.16)			14	150					6.72482e-11	8.31618e-11	1	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834092	178834092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178834092C>A	ENST00000234816.2	-	3	1267	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Nonsense_Mutation_p.E274*|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	274	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AACTCACCTTCATTGATGAAA	0.393000													12	39					1.08611e-07	1.25818e-07	1	1	0
RYR2	6262	broad.mit.edu	37	1	237870481	237870481	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237870481G>A	ENST00000366574.2	+	68	10130	c.9813G>A	c.(9811-9813)gaG>gaA	p.E3271E	RYR2_ENST00000360064.6_Silent_p.E3269E|RYR2_ENST00000542537.1_Silent_p.E3255E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3271					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAACTCAGAGCACATGAACA	0.483000													15	18					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285548	7285548	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7285548T>G	ENST00000361972.4	-	9	1182	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	364					regulation of transcription, DNA-dependent	nucleus		p.K364N(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGACTCCATTTTTAAGGCACC	0.448000													24	51					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535816	69535816	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69535816C>T	ENST00000338206.5	-	1	530	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	174				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AACAGAGAATCGAAGACTGTA	0.408000													14	205					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232915	134232915	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134232915C>T	ENST00000250160.6	+	3	547	c.441C>T	c.(439-441)atC>atT	p.I147I	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	147	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCACGTGCATCGACGGCGCGG	0.662000													44	89					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120690496	120690496	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120690496C>T	ENST00000527524.2	+	6	665	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GRIK4_ENST00000438375.2_Silent_p.F126F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	126					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAGAGGAGTTCGTCAAGTTCC	0.532000													102	208					0	0	1	0	0
OCLM	10896	broad.mit.edu	37	1	186370207	186370207	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186370207G>T	ENST00000574641.1	+	1	504	c.30G>T	c.(28-30)aaG>aaT	p.K10N	C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	10					visual perception												TATTGTTAAAGATTTACCTTA	0.338000													31	54					9.65963e-10	1.17364e-09	1	1	0
HEG1	57493	broad.mit.edu	37	3	124720800	124720800	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124720800A>G	ENST00000311127.4	-	11	3480	c.3413T>C	c.(3412-3414)gTg>gCg	p.V1138A		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1138						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAATAGCGTCACATTGGAGGC	0.502000													13	24					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7240690	7240690	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7240690T>G	ENST00000379938.2	+	11	4365	c.3828T>G	c.(3826-3828)tgT>tgG	p.C1276W	RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.C1276W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTTCCCTTGTCAAAAATGCG	0.413000													7	87					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94292899	94292899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94292899G>A	ENST00000482108.1	+	2	510	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	PEG10_ENST00000488574.1_Missense_Mutation_p.E11K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	11					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CGAGCTCTCTGAAGAGATCAA	0.527000													12	7					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040342	34040342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34040342C>T	ENST00000389232.4	+	54	8087	c.8017C>T	c.(8017-8019)Cga>Tga	p.R2673*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2673*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2673	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCCTGCGCGAGAGTCCCT	0.527000													24	61					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54277993	54277993	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54277993G>T	ENST00000354646.2	-	14	2933	c.2495C>A	c.(2494-2496)tCt>tAt	p.S832Y	WNK3_ENST00000375159.2_Missense_Mutation_p.S832Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S832Y	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	832					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						CACAGTAATAGAATCAACTCC	0.378000													11	21					3.07112e-06	3.42433e-06	1	1	0
KNG1	3827	broad.mit.edu	37	3	186460097	186460097	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186460097G>A	ENST00000265023.4	+	10	2124	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	638					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)	TTATTATTTCGATCTCACTGA	0.373000													28	46					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638113	149638113	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149638113G>T	ENST00000370401.2	+	4	578	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	MAMLD1_ENST00000432680.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D90Y|MAMLD1_ENST00000426613.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000468306.1_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	90					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTTGAAGATGTCACCCT	0.502000													45	99					6.7651e-33	9.6967e-33	1	1	0
RTKN2	219790	broad.mit.edu	37	10	63957810	63957810	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:63957810G>A	ENST00000373789.3	-	12	1783	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	563					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTGGCAGGCAGAAGTTTTCGA	0.438000													22	52					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833270	101833270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101833270G>T	ENST00000263468.8	+	6	1774	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E303*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	502							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGATGGTAAAGAAGAAGAGAT	0.323000													10	10					0.00829132	0.00855608	1	1	0
IL16	3603	broad.mit.edu	37	15	81565534	81565534	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81565534G>T	ENST00000394660.2	+	6	1139	c.779G>T	c.(778-780)aGg>aTg	p.R260M	IL16_ENST00000302987.4_Missense_Mutation_p.R260M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	260	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCGATGGAAGGCTACAGGAA	0.517000													16	35					1.15088e-07	1.32965e-07	1	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106093368	106093368	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106093368C>A	ENST00000357242.5	+	12	2125	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L645I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	651	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTTGGTTTCTCACACTTTT	0.413000													28	43					1.33986e-20	1.83757e-20	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19702791	19702791	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19702791G>A	ENST00000438132.3	+	29	2959	c.2911G>A	c.(2911-2913)Gag>Aag	p.E971K	C16orf62_ENST00000251143.5_Missense_Mutation_p.E882K|C16orf62_ENST00000448695.1_Missense_Mutation_p.E732K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E878K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E789K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E631K	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	882						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCAAGGACGAGGTGGGTGC	0.537000													9	15					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70227923	70227923	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70227923G>T	ENST00000342771.4	+	7	1131	c.810G>T	c.(808-810)aaG>aaT	p.K270N	AUTS2_ENST00000406775.2_Missense_Mutation_p.K270N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	270										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTGTCCCCAAGATATCGGGTC	0.547000													80	144					9.59377e-39	1.38358e-38	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90816089	90816089	+	Translation_Start_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90816089T>G	ENST00000394980.1	+	0	286				MMRN1_ENST00000264790.2_De_novo_Start_OutOfFrame			Q13201	MMRN1_HUMAN	multimerin 1						cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGTCCCCAAATTTCACATGAG	0.423000													14	26					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115822462	115822462	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:115822462A>C	ENST00000343348.6	-	10	1732	c.945T>G	c.(943-945)ttT>ttG	p.F315L	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.F315L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	315	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AAGGTGTAGAAAACGTTGCCA	0.438000													28	62					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95461145	95461145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95461145C>A	ENST00000333003.5	-	2	346	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Nonsense_Mutation_p.E6*|NR2C1_ENST00000330677.7_Nonsense_Mutation_p.E6*	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	6	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTGCAATTTCTTCTATGGTT	0.313000													14	25					0.000151284	0.00016287	1	1	0
CPNE8	144402	broad.mit.edu	37	12	39161529	39161529	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39161529C>T	ENST00000331366.5	-	8	579	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CPNE8_ENST00000360449.3_Silent_p.L149L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	161	C2 2.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAAATTGCATCAAAACGGCAT	0.328000													19	35					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112335658	112335658	+	Silent	SNP	G	G	A	rs141976023		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112335658G>A	ENST00000206423.3	-	5	3173	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	CCDC80_ENST00000439685.2_Silent_p.I740I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	740										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGAAAGTATCGATCAGATCAA	0.388000													30	36					0	0	1	0	0
NPY4R	0	broad.mit.edu	37	10	47087310	47087310	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087310C>T	ENST00000374312.1	+	3	946	c.527C>T	c.(526-528)gCc>gTc	p.A176V	NPY4R_ENST00000395716.1_Missense_Mutation_p.A176V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCCTTCCTGGCCAACAGCATC	0.572000													27	117					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	855733	855733	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:855733G>A	ENST00000301698.1	+	1	291	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	97										large_intestine(1)|lung(1)|skin(1)	3						CAGGAACAGCGCAGCCGCTCG	0.647000													11	22					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975706	24975706	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24975706G>T	ENST00000250378.3	-	3	343	c.314C>A	c.(313-315)tCt>tAt	p.S105Y	CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	105	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTGAAGAGTAGAAGTGTTATA	0.433000													44	73					6.68952e-21	9.19686e-21	1	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87155104	87155104	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87155104A>C	ENST00000285393.3	+	5	703		c.e5-1		CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTTCTTTTTAAGTCTTACCTT	0.303000													21	53					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166991017	166991017	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166991017C>A	ENST00000367872.4	+	12	1474	c.1230C>A	c.(1228-1230)ttC>ttA	p.F410L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.F379L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	410					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCCACAAATTCTCCAACTGTG	0.403000													33	47					4.4194e-11	5.4833e-11	1	1	0
NEXN	91624	broad.mit.edu	37	1	78392235	78392235	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78392235G>T	ENST00000330010.8	+	6	731	c.434G>T	c.(433-435)aGa>aTa	p.R145I	NEXN_ENST00000457030.1_Missense_Mutation_p.R195I|NEXN_ENST00000334785.7_Missense_Mutation_p.R209I	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	209	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGATAAAAGAATAAGATAT	0.299000													10	59					4.68919e-08	5.48405e-08	1	1	0
MUC2	4583	broad.mit.edu	37	11	1095311	1095311	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1095311G>A	ENST00000441003.2	+	32	6158	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	MUC2_ENST00000361558.6_Missense_Mutation_p.G182D|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	2076						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGACGCCCGGCACCAAGCCC	0.672000													16	30					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42268132	42268132	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42268132G>A	ENST00000319511.6	+	3	1456	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.R289Q|TMUB2_ENST00000587989.1_Missense_Mutation_p.R289Q|TMUB2_ENST00000446571.3_Missense_Mutation_p.R232Q|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.R269Q|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.R269Q|TMUB2_ENST00000587172.1_3'UTR	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	289						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGTACTTCCGAATCAATTAC	0.547000													37	85					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7060094	7060094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7060094G>T	ENST00000299481.4	+	2	623	c.277G>T	c.(277-279)Gaa>Taa	p.E93*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	93	DAPIN.				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)		GAGAGCGAAAGAAGAGATCAA	0.458000													5	37					1	1	1	1	0
PDE1A	0	broad.mit.edu	37	2	183070763	183070763	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183070763C>T	ENST00000435564.1	-	8	1054	c.854G>A	c.(853-855)cGc>cAc	p.R285H	PDE1A_ENST00000351439.5_Missense_Mutation_p.R269H|PDE1A_ENST00000346717.4_Missense_Mutation_p.R251H|PDE1A_ENST00000536095.1_Missense_Mutation_p.R181H|PDE1A_ENST00000456212.1_Missense_Mutation_p.R285H|PDE1A_ENST00000410103.1_Missense_Mutation_p.R285H|PDE1A_ENST00000409365.1_Missense_Mutation_p.R269H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R285H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R285H	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	285	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAGGACAGAGCGATCATTATA	0.358000													14	22					0	0	1	0	0
TOMM5	401505	broad.mit.edu	37	9	37588877	37588877	+	Nonstop_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37588877A>G	ENST00000401811.3	-	2	366	c.295T>C	c.(295-297)Tga>Cga	p.*99R	TOMM5_ENST00000544379.1_3'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR|TOMM5_ENST00000321301.6_3'UTR|TOMM5_ENST00000377773.5_3'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR			Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	0						integral to membrane|mitochondrial outer membrane translocase complex											TCGTGCATTCATATGTGATGT	0.363000													8	21					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155283	71155283	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71155283A>G	ENST00000283228.2	-	4	1047	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	PTPRR_ENST00000342084.4_Missense_Mutation_p.S87P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	199					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCAAACTGGGATAAACTTTGA	0.383000													20	68					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99169914	99169914	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99169914A>G	ENST00000424881.1	+	4	508	c.288A>G	c.(286-288)aaA>aaG	p.K96K	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Silent_p.K61K|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.K61K|ZNF655_ENST00000493277.1_Silent_p.K96K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	61					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTAAGCAGAAAATTTCGGAAG	0.383000													18	48					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37387806	37387806	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:37387806C>T	ENST00000338564.5	-	5	843	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.E133K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E120K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E120K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E133K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E133K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E45K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E45K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E120K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	133					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTGGCTTTTCGGCGCGAACC	0.478000													16	36					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751395	19751395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19751395C>T	ENST00000400113.3	-	4	832	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	243					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R243Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCGTCAAATCGCAGGGAGGC	0.597000													74	125					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758182	116758182	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116758182G>T	ENST00000331677.3	+	7	2995	c.2551G>T	c.(2551-2553)Gat>Tat	p.D851Y	DSE_ENST00000537543.1_Missense_Mutation_p.D870Y|DSE_ENST00000359564.2_Missense_Mutation_p.D851Y|DSE_ENST00000452085.3_Missense_Mutation_p.D851Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	851					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTACCCATAGATGAAGATGA	0.383000													18	40					2.48551e-13	3.17925e-13	1	1	0
ICAM4	3386	broad.mit.edu	37	19	10398049	10398049	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10398049A>G	ENST00000393717.2	+	1	370	c.361A>G	c.(361-363)Aca>Gca	p.T121A	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.T121A|ICAM4_ENST00000340992.4_Missense_Mutation_p.T121A	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	121	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCAGGAAAAACACGCTGGGC	0.672000													12	8					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509986	77509986	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77509986T>C	ENST00000477717.1	+	3	594	c.359T>C	c.(358-360)gTc>gCc	p.V120A		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	120					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACAGAGTGTGTCATCCGCATG	0.612000													4	57					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672634	150672634	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150672634G>T	ENST00000368993.2	-	14	1163	c.1058C>A	c.(1057-1059)tCt>tAt	p.S353Y	HORMAD1_ENST00000322343.7_Missense_Mutation_p.S346Y|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S353Y|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S273Y			Q86X24	HORM1_HUMAN	HORMA domain containing 1	353					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTTGGAAGATTTTACTGG	0.323000													12	23					0.105934	0.10725	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790722	133790722	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:133790722A>C	ENST00000321016.8	-	18	3128	c.2898T>G	c.(2896-2898)taT>taG	p.Y966*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y966*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	966	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTACCCATAATACTGGCCAT	0.721000													11	27					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826576	95826576	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95826576G>A	ENST00000524717.1	-	2	1903	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	207					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCCCCAACACGAATTCTTTTG	0.458000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								26	57					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54076093	54076093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076093G>T	ENST00000373970.3	+	3	584	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	149					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TTTCCGAGGAGAAATTGAGGA	0.393000													15	21					1.15088e-07	1.32965e-07	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7678157	7678157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678157C>T	ENST00000572933.1	+	29	6042	c.4582C>T	c.(4582-4584)Cga>Tga	p.R1528*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1528*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1528	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAGACCAAGCGACATATTTT	0.463000													6	59					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47258711	47258711	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47258711C>T	ENST00000318584.5	+	4	301	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R2W	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	2						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGCCCCATGCGGCTCACCCG	0.657000													8	16					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470911	161470911	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161470911A>C	ENST00000392142.4	+	3	1755	c.1607A>C	c.(1606-1608)cAg>cCg	p.Q536P	MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q536P	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCACTGAAGCAGATGGGGTTA	0.438000													11	56					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169201497	169201497	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169201497C>T	ENST00000393743.3	-	14	2258	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	656							ATP binding|ATP-dependent helicase activity|RNA binding	p.R656Q(2)		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)		TTCTTCACTTCGGCAATGTTC	0.363000													24	49					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135099273	135099273	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135099273C>A	ENST00000409645.1	+	8	1172	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	MGAT5_ENST00000281923.2_Missense_Mutation_p.S307Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	307					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTAATTACATCTCTGTACTTA	0.398000													6	35					8.12818e-05	8.79784e-05	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155199563	155199563	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155199563C>A	ENST00000460012.1	-	23	4519	c.4162G>T	c.(4162-4164)Gat>Tat	p.D1388Y	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1426Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1388Y			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1426					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTTGACATCTTGAATATTG	0.408000													27	51					1.04121e-07	1.21041e-07	1	1	0
FANCM	57697	broad.mit.edu	37	14	45624629	45624629	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45624629G>A	ENST00000267430.5	+	8	1448	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	FANCM_ENST00000556036.1_Missense_Mutation_p.E455K|FANCM_ENST00000542564.2_Missense_Mutation_p.E429K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	455	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAATTAGAAGAAGTTGTAAT	0.274000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	17					0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104065041	104065041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104065041G>A	ENST00000395862.3	+	6	623	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R155Q|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R80Q|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R80Q	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	155					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AATTTGGAACGAAAGAATGCG	0.368000													17	33					0	0	1	0	0
MBNL1	4154	broad.mit.edu	37	3	152174096	152174096	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:152174096A>G	ENST00000324196.5	+	5	1637	c.848A>G	c.(847-849)cAg>cGg	p.Q283R	MBNL1_ENST00000324210.5_Silent_p.A346A|MBNL1_ENST00000282488.7_Silent_p.A266A|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000463374.1_Silent_p.A352A|MBNL1_ENST00000545754.1_Silent_p.A278A|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000485910.1_Silent_p.A266A|MBNL1_ENST00000493459.1_Silent_p.A307A|MBNL1_ENST00000282486.6_Silent_p.A352A|MBNL1_ENST00000355460.2_Silent_p.A334A|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q283R|MBNL1_ENST00000498502.1_Intron	NM_207296.1	NP_997179.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	291					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGTGTCCGCAGCAACAACAT	0.458000													86	151					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48580301	48580301	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48580301A>C	ENST00000396577.3	+	22	2906	c.2691A>C	c.(2689-2691)gaA>gaC	p.E897D	SLC12A1_ENST00000380993.3_Missense_Mutation_p.E897D|SLC12A1_ENST00000558405.1_Missense_Mutation_p.E897D	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	897					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AACTGGTGGAAGCCAGCACTC	0.403000													6	9					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59274382	59274382	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:59274382T>G	ENST00000320743.3	-	13	2068	c.1782A>C	c.(1780-1782)aaA>aaC	p.K594N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K534N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	594	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TAAGCTTGGCTTTGACAGAGT	0.393000			T	ROS1	NSCLC								5	41					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45537860	45537860	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45537860A>G	ENST00000415258.1	+	13	1758	c.1617A>G	c.(1615-1617)ccA>ccG	p.P539P	LARS2_ENST00000265537.3_Silent_p.P539P|LARS2_ENST00000414984.1_Silent_p.P496P|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	539					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTCATAATCCACACAGGTAAA	0.448000													49	115					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100401201	100401201	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100401201C>T	ENST00000358173.3	-	17	3314	c.2846G>A	c.(2845-2847)cGa>cAa	p.R949Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.R897Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	949	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACTCCGATTCGGAGCAGGTC	0.607000													4	17					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	663					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373000													15	32					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16959664	16959664	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16959664C>T	ENST00000412962.1	-	0	74																											TTGTCCAGGTCGCTTTGCATC	0.632000													6	109					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72037952	72037952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72037952G>A	ENST00000378743.3	-	5	1784	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	476					RNA processing	intracellular	metal ion binding	p.R476*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGAGATCTCGAATTTTTCTG	0.363000													4	16					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561492	15561492	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:15561492T>C	ENST00000344577.2	-	2	383	c.358A>G	c.(358-360)Att>Gtt	p.I120V	LIPI_ENST00000536861.1_Missense_Mutation_p.I99V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	99					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCAGCAAAATCCTTACGAAG	0.368000													12	28					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147491427	147491427	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147491427G>T	ENST00000359874.3	+	19	1862	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C|SPINK5_ENST00000256084.7_Missense_Mutation_p.G597C	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	597	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.G597C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATCCACGGCAACACCTG	0.537000													29	44					3.73148e-12	4.68978e-12	1	1	0
NUP210	23225	broad.mit.edu	37	3	13420466	13420466	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:13420466C>A	ENST00000254508.5	-	8	1073	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	331					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTAGAAGCACCTTGCATGCGA	0.498000													28	46					1.5548e-18	2.10666e-18	1	1	0
DEGS1	8560	broad.mit.edu	37	1	224377638	224377638	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224377638T>G	ENST00000323699.4	+	2	608	c.442T>G	c.(442-444)Ttt>Gtt	p.F148V	DEGS1_ENST00000391877.3_Missense_Mutation_p.F148V|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	148					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TCCTACCGATTTTGAGGGCTG	0.428000													16	114					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9489440	9489440	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9489440G>A	ENST00000402466.1	+	16	2327	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q|SETD5_ENST00000406341.1_Missense_Mutation_p.R618Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	618								p.R520L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCGAAGAGTCGAATTTCTCGG	0.522000													46	103					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63128788	63128788	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63128788C>T	ENST00000251157.5	-	2	85	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DOCK7_ENST00000404627.2_Missense_Mutation_p.E18K|DOCK7_ENST00000340370.5_Missense_Mutation_p.E18K	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	18					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCCTAACTTCGGCTGCCACC	0.358000													28	64					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220026863	220026863	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220026863C>T	ENST00000455516.2	-	12	1672	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.R417Q|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R534Q	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	534					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGGCATTCGAGCCTCTTG	0.567000													10	56					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8981263	8981263	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8981263C>T	ENST00000264926.2	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	227					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTCTCTTCGCGTGATAAA	0.403000								Rad6 pathway					12	46					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454470	99454470	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99454470C>A	ENST00000354829.2	+	9	916	c.813C>A	c.(811-813)ttC>ttA	p.F271L	CYP3A43_ENST00000222382.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000417625.1_Missense_Mutation_p.F161L|CYP3A43_ENST00000444905.1_Missense_Mutation_p.F18L|CYP3A43_ENST00000342499.4_Missense_Mutation_p.F131L|CYP3A43_ENST00000415413.1_Missense_Mutation_p.F60L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	271			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GAGTAGATTTCTTTCAACAGA	0.443000													29	60					6.07407e-21	8.36301e-21	1	1	0
TRIM50	135892	broad.mit.edu	37	7	72733015	72733015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72733015C>T	ENST00000333149.2	-	4	732	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TRIM50_ENST00000453152.1_Missense_Mutation_p.E178K	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	178						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCCTGGAACTCGCGGCGGATC	0.652000													37	102					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2151286	2151286	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:2151286C>A	ENST00000355272.6	-	1	254	c.48G>T	c.(46-48)aaG>aaT	p.K16N	AP3D1_ENST00000350812.6_Missense_Mutation_p.K16N|AP3D1_ENST00000356926.4_Missense_Mutation_p.K16N|AP3D1_ENST00000345016.5_Missense_Mutation_p.K16N	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	16					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGATTCTTGTCGAACA	0.692000													10	26					6.42651e-13	8.16824e-13	1	1	0
QTRTD1	79691	broad.mit.edu	37	3	113789594	113789594	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113789594A>C	ENST00000281273.4	+	6	712	c.455A>C	c.(454-456)aAg>aCg	p.K152T	QTRTD1_ENST00000485050.1_Missense_Mutation_p.K164T|QTRTD1_ENST00000479882.1_Missense_Mutation_p.K29T|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000493014.1_Missense_Mutation_p.K46T	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	152					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GTATCTTGTAAGGAAGCAACT	0.483000													27	44					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438410	114438410	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114438410C>T	ENST00000369569.1	-	9	2041	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	AP4B1_ENST00000256658.4_Silent_p.E587E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.E419E|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	587					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTAGGAAGCTCTGGGTCAC	0.453000													14	31					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104221	93104221	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93104221C>G	ENST00000298050.3	+	7	664	c.564C>G	c.(562-564)taC>taG	p.Y188*		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	188										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAAAGTTACCAAACTCAAC	0.323000													10	11					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74688986	74688986	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74688986G>A	ENST00000233616.4	-	4	2092	c.1930C>T	c.(1930-1932)Cac>Tac	p.H644Y	MOGS_ENST00000452063.2_Missense_Mutation_p.H538Y|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	644					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGGGCCCAGTGCAGCTCATCC	0.637000													23	58					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116598356	116598356	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116598356T>G	ENST00000410059.1	+	25	2693	c.2213T>G	c.(2212-2214)tTa>tGa	p.L738*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.L731*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.L742*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.L688*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	738					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGCAGAATTAATCAAGCAC	0.328000													7	35					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336433	104336433	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104336433G>A	ENST00000299767.5	+	12	1685	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	501					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AAGACCACTCGAATCGAACAC	0.393000													17	39					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651946	96651946	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:96651946C>T	ENST00000302103.5	+	3	1241	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	305					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGAAGGAAGTCGACAAAAACA	0.373000													5	36					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852208	20852208	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20852208A>C	ENST00000382148.3	-	2	507	c.171T>G	c.(169-171)ttT>ttG	p.F57L	KCNIP4_ENST00000382152.2_Missense_Mutation_p.F82L|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F48L|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F20L|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F61L|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F20L|KCNIP4_ENST00000382149.4_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	82						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTTTCTTGGTAAATTTGCTCT	0.448000													29	47					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340703	39340703	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39340703T>C	ENST00000454994.2	-	2	1344	c.1068A>G	c.(1066-1068)aaA>aaG	p.K356K	GJA9_ENST00000360786.3_Silent_p.K356K|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.K356K|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	356					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTCCAAATATTTTATGAGTGT	0.338000													11	33					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157019	154157019	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154157019G>A	ENST00000360256.4	-	14	5246	c.5046C>T	c.(5044-5046)gaC>gaT	p.D1682D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1682					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)	TATCATCATAGTCAATTTCCT	0.413000													24	35					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240966271	240966271	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240966271T>G	ENST00000366565.1	-	16	1673	c.1292A>C	c.(1291-1293)aAa>aCa	p.K431T	RGS7_ENST00000366564.1_Missense_Mutation_p.K431T|RGS7_ENST00000348120.2_Missense_Mutation_p.K378T|RGS7_ENST00000401882.1_Missense_Mutation_p.K378T|RGS7_ENST00000407727.1_Missense_Mutation_p.K431T|RGS7_ENST00000446183.2_Missense_Mutation_p.K347T|RGS7_ENST00000366562.4_Missense_Mutation_p.K431T|RGS7_ENST00000331110.7_Missense_Mutation_p.K405T|RGS7_ENST00000366563.1_Missense_Mutation_p.K431T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	431	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGAATCACTTTTCATCAGTTT	0.358000													25	44					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102153891	102153891	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102153891T>G	ENST00000299314.7	-	16	3428	c.3166A>C	c.(3166-3168)Aat>Cat	p.N1056H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1056					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTGAGCAATTTATTAGCATG	0.353000													20	49					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248113023	248113023	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248113023C>A	ENST00000357191.3	+	1	864	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCCCATCATCTATAGCCTGA	0.498000													8	88					0.000274275	0.000292037	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96589253	96589253	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96589253A>C	ENST00000376747.3	-	17	1972	c.1902T>G	c.(1900-1902)aaT>aaG	p.N634K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	634					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTTCTTTAATATTCATCTCTT	0.338000													16	55					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81777837	81777837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81777837C>A	ENST00000550584.2	-	8	1244	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E164*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E317*|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E218*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E243*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	243										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGTTCATTTCTTCTGTTTTA	0.433000													7	34					2.0095e-06	2.25447e-06	1	1	0
RB1	5925	broad.mit.edu	37	13	48955517	48955517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48955517G>T	ENST00000267163.4	+	17	1771	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	545	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGACAAGAGAAATGATAAA	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			8	22					0.0381472	0.0387537	1	1	0
WWP1	11059	broad.mit.edu	37	8	87393822	87393822	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87393822G>A	ENST00000517970.1	+	5	605	c.298G>A	c.(298-300)Gat>Aat	p.D100N	WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.D100N|WWP1_ENST00000341922.2_Missense_Mutation_p.D100N|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	100					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGCAACGATAGATTTGAAACA	0.333000													22	34					0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44154947	44154947	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44154947G>A	ENST00000406581.2	-	11	1845	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	POLD2_ENST00000452185.1_Missense_Mutation_p.P399L|POLD2_ENST00000223361.3_Missense_Mutation_p.P385L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	399					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	p.P399Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GTAGACATGCGGGCACTCTGG	0.532000													47	65					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846815	47846815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846815G>A	ENST00000339488.4	-	3	1798	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	589						integral to membrane	hedgehog receptor activity	p.R589*(1)									ATATCATTTCGAAAATGCTGG	0.423000													5	26					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45433195G>A	ENST00000361462.2	+	1	1754	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H|FAM179B_ENST00000361577.3_Missense_Mutation_p.R524H|KLHL28_ENST00000553817.1_5'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	524							binding	p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463000													31	72					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630550	67630550	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:67630550G>A	ENST00000272342.5	+	5	866	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	246						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TATAGTTCCCGAAATAGATAA	0.313000													25	52					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556698	118556698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118556698C>T	ENST00000360388.4	+	3	577	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	126					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGCAATTTTACGACGAAGATG	0.378000													9	30					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475689	118475689	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118475689A>G	ENST00000360388.4	+	2	456	c.255A>G	c.(253-255)tcA>tcG	p.S85S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	85					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGTATCTGTCAGAAGATTTCC	0.443000													9	141					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32971071	32971071	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32971071C>T	ENST00000544455.1	+	26	9765	c.9538C>T	c.(9538-9540)Ctt>Ttt	p.L3180F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L3180F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3180					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAAAACAAGCTTATGCATAT	0.378000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			79	130					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3551						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						AACATTAGGCGAGCTTCCTGG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	63					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110451051	110451051	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110451051C>T	ENST00000261739.4	+	3	517	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	117										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAAATTCTCGAGGTATCCA	0.468000													16	33					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159533502C>A	ENST00000307765.5	+	8	919	c.668C>A	c.(667-669)tCt>tAt	p.S223Y	RXFP1_ENST00000460056.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190Y	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	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S223Y(1)		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)		GGACTAAATTCTCTTATTCTC	0.274000													3	13					6.4e-05	6.95424e-05	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5262810	5262810	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5262810G>T	ENST00000274181.7	+	18	2841	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	901	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGACCTGAAGTTTCAAGTAA	0.502000													19	39					3.32936e-07	3.80431e-07	1	1	0
GRIN2A	0	broad.mit.edu	37	16	10274037	10274037	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10274037C>T	ENST00000396573.2	-	3	541	c.232G>A	c.(232-234)Gac>Aac	p.D78N	GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	78					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTTGGGGTCGGTGCGGTTC	0.667000													46	95					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124243893	124243893	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124243893C>A	ENST00000276704.4	-	4	513	c.462G>T	c.(460-462)caG>caT	p.Q154H	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q122H	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	154							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCAGTTTCTGCAGGCAGA	0.443000													44	86					2.24893e-16	2.99237e-16	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29487555	29487555	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29487555T>G	ENST00000283351.4	-	9	1592	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	TRAPPC8_ENST00000582513.1_Silent_p.P419P|TRAPPC8_ENST00000582539.1_Silent_p.P365P	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	419					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGAAGTTCTGGTGCTTCCG	0.328000													19	16					0	0	1	0	0
BEX2	84707	broad.mit.edu	37	X	102564538	102564538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102564538C>A	ENST00000536889.1	-	3	820	c.463G>T	c.(463-465)Gag>Tag	p.E155*	BEX2_ENST00000372674.1_Nonsense_Mutation_p.E123*|BEX2_ENST00000372677.3_Nonsense_Mutation_p.E123*	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	123					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						AGGCAAAACTCATCGTGATGG	0.483000													67	98					1.08241e-25	1.52617e-25	1	1	0
FBXL5	26234	broad.mit.edu	37	4	15642453	15642453	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15642453A>C	ENST00000341285.3	-	3	478	c.354T>G	c.(352-354)gcT>gcG	p.A118A	FBXL5_ENST00000412094.2_Silent_p.A101A|FBXL5_ENST00000382358.4_5'UTR	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	118	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCTTGTAAAAGCCTCCAATC	0.279000													7	27					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509932	187509932	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4527					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGCGCCTCGAAGTGTCTTT	0.562000										HNSCC(5;0.00058)			25	39					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15589793	15589793	+	Missense_Mutation	SNP	G	G	C	rs145437639	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15589793G>C	ENST00000427411.1	-	14	2007	c.1791C>G	c.(1789-1791)gaC>gaG	p.D597E	ACE2_ENST00000252519.3_Missense_Mutation_p.D597E	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	597					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCTTGTTCTGGTCTTTCAGCC	0.453000													43	85					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39264612	39264612	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39264612G>A	ENST00000280481.7	+	1	3347	c.3131G>A	c.(3130-3132)aGa>aAa	p.R1044K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1044					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1044I(1)		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)		CAAGAATGGAGAATTGGTGGC	0.448000													12	118					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19576994	19576994	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19576994G>T	ENST00000341998.2	-	5	1217	c.1156C>A	c.(1156-1158)Ctc>Atc	p.L386I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L369I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	386					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATCTTGTGGAGAATTGAAGCC	0.502000													38	55					2.40579e-17	3.22781e-17	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9862500	9862500	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9862500C>A	ENST00000380913.3	+	4	642	c.552C>A	c.(550-552)ccC>ccA	p.P184P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	184					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGACCACCCCTCCAGTCGCC	0.622000													23	44					3.8784e-16	5.13982e-16	1	1	0
RHOG	391	broad.mit.edu	37	11	3849145	3849145	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3849145G>T	ENST00000351018.4	-	2	381	c.224C>A	c.(223-225)aCc>aAc	p.T75N	RHOG_ENST00000533217.1_Missense_Mutation_p.T75N|RHOG_ENST00000396978.1_Missense_Mutation_p.T75N|RHOG_ENST00000396979.1_Missense_Mutation_p.T75N	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	75					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAAAACGTTGGTCTGAGGGTA	0.597000													20	54					0.000175454	0.000188314	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153227718	153227718	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153227718G>A	ENST00000310441.7	-	5	1718	c.752C>T	c.(751-753)gCg>gTg	p.A251V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A251V|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.A251V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	251					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)					AGGAAGAGGCGCCACCCCGCT	0.597000													13	20					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40851677	40851677	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:40851677C>A	ENST00000255224.3	-	3	1338	c.970_splice	c.e3+1	p.D324_splice	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.D306_splice	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	324	C2 2.					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						GCATTCTTACCTGAAAGTCCG	0.393000													16	35					1.15088e-07	1.32965e-07	1	1	0
DLGAP5	9787	broad.mit.edu	37	14	55629731	55629731	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55629731G>T	ENST00000247191.2	-	13	1827	c.1611C>A	c.(1609-1611)gtC>gtA	p.V537V	DLGAP5_ENST00000395425.2_Silent_p.V537V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	537					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TATTATTATTGACTTGCCACC	0.294000													11	17					5.50884e-06	6.10489e-06	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62290081	62290081	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290081T>C	ENST00000378024.4	-	5	12082	c.11808A>G	c.(11806-11808)aaA>aaG	p.K3936K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3936					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTGGGCATTTTTATCTTAG	0.507000													137	212					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116961	106116961	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106116961C>A	ENST00000357242.5	+	21	3303	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1037L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1043						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAAAGGATTCTCTGGTACTG	0.453000													35	82					9.8876e-21	1.35804e-20	1	1	0
CAPN7	23473	broad.mit.edu	37	3	15275456	15275456	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:15275456A>C	ENST00000253693.2	+	11	1515	c.1262A>C	c.(1261-1263)aAt>aCt	p.N421T		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	421	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTAAGGATAATTCTTTCAGA	0.383000													19	32					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551852	125551852	+	Missense_Mutation	SNP	C	C	T	rs112939157		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125551852C>T	ENST00000373680.2	+	1	703	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CAGACAGCCACGGTGTTAGCT	0.577000													22	36					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74916109	74916109	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74916109T>G	ENST00000372979.4	-	5	720	c.514A>C	c.(514-516)Aat>Cat	p.N172H	ECD_ENST00000430082.1_Missense_Mutation_p.N172H|ECD_ENST00000454759.1_Missense_Mutation_p.N172H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	172					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GTGATTATATTCAATGCTTGT	0.403000													32	36					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94310616	94310616	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94310616C>T	ENST00000299001.6	+	4	682	c.471C>T	c.(469-471)ttC>ttT	p.F157F	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	157					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAAAGCATTCGACGGTGCCA	0.343000													15	21					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54076160	54076160	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076160G>T	ENST00000373970.3	+	3	651	c.512G>T	c.(511-513)aGa>aTa	p.R171I	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	171					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TATTCCAGAAGAACCACCTTG	0.373000													4	47					1.23904e-05	1.36503e-05	1	1	0
FBXW11	23291	broad.mit.edu	37	5	171326969	171326969	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171326969C>T	ENST00000296933.6	-	4	840	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	FBXW11_ENST00000265094.5_Missense_Mutation_p.R170Q|FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q|FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000522891.1_5'UTR	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	170	F-box.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R170Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTACCATTCGTTCAATCAG	0.448000													73	108					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80049219	80049219	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80049219G>A	ENST00000306749.2	-	9	1589	c.1371C>T	c.(1369-1371)atC>atT	p.I457I		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	457	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACAGCCGCGATGTCGTTCA	0.711000													6	16					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39449160	39449160	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39449160G>A	ENST00000301821.6	+	2	125	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RPSA_ENST00000443003.1_Missense_Mutation_p.D6N	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	6					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		Cggagcccttgatgtcctgca	0.438000													24	23					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121577399	121577399	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121577399G>A	ENST00000275159.6	-	16	1765	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	TBC1D32_ENST00000398212.2_Missense_Mutation_p.S589L					TBC1 domain family, member 32																		AAGTTTTTTCGAAAACTGGGC	0.338000													11	16					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56417403	56417403	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56417403G>T	ENST00000370754.5	-	61	16093	c.16094C>A	c.(16093-16095)tCt>tAt	p.S5365Y	DST_ENST00000361203.3_Missense_Mutation_p.S5185Y|DST_ENST00000244364.6_Missense_Mutation_p.S2773Y|DST_ENST00000446842.2_Missense_Mutation_p.S4861Y|DST_ENST00000370769.4_Missense_Mutation_p.S5187Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S3099Y|DST_ENST00000370788.2_Missense_Mutation_p.S3099Y			Q03001	DYST_HUMAN	dystonin	5185					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)			TGCGAACTGAGAAAACATTTC	0.408000													15	16					0.000219431	0.000235335	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64966708	64966708	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64966708G>T	ENST00000399262.2	-	10	4939	c.4721C>A	c.(4720-4722)tCt>tAt	p.S1574Y	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1392Y|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1355Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1574					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGATACAGAATTCCCTGA	0.318000													14	38					7.93312e-07	8.98086e-07	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1270813	1270813	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270813C>A	ENST00000348261.5	+	35	7129	c.6881C>A	c.(6880-6882)gCt>gAt	p.A2294D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2288D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2288D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2294					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAATCCAGAGCTTCCTCTTCA	0.632000													33	77					7.61165e-28	1.08027e-27	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140354851	140354851	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140354851G>A	ENST00000406427.1	-	35	4359	c.4023C>T	c.(4021-4023)gaC>gaT	p.D1341D	PNPLA7_ENST00000371457.1_Silent_p.D922D|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.D1316D	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1316					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCTCTACCCGTCCTGGTCAG	0.617000													8	32					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437472	201437472	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437472T>G	ENST00000357799.4	+	7	2501	c.2403T>G	c.(2401-2403)gaT>gaG	p.D801E		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)	801					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						GTCAAAATGATTCAAAAATAG	0.348000													13	59					0	0	1	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34637346	34637346	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34637346G>A	ENST00000277010.4	-	2	296	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	SIGMAR1_ENST00000477726.1_Missense_Mutation_p.P75S|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	NM_005866.2	NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	75					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	TCCTCGTCGGGCAGCACGTGG	0.677000													8	13					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378009	48378009	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48378009T>C	ENST00000222002.3	-	5	789	c.650A>G	c.(649-651)aAc>aGc	p.N217S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	217					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AAAGGAGCTGTTCTTGAGAAT	0.378000													11	40					0	0	1	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49032046	49032046	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49032046T>A	ENST00000376317.3	-	9	1918	c.1824A>T	c.(1822-1824)cgA>cgT	p.R608R	PRICKLE3_ENST00000536904.1_Silent_p.R527R|PRICKLE3_ENST00000538114.1_Silent_p.R432R|PRICKLE3_ENST00000540849.1_Silent_p.R540R	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	608							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						AGTTCTTGTCTCGGGCCTGAC	0.622000													21	36					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91065810	91065810	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91065810G>T	ENST00000371826.3	+	2	266	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	33					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CTCCTTGGATGATTTTGAAGA	0.433000													20	39					4.96729e-08	5.79844e-08	1	1	0
MERTK	10461	broad.mit.edu	37	2	112779123	112779123	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112779123C>A	ENST00000295408.4	+	17	2571	c.2314C>A	c.(2314-2316)Ctt>Att	p.L772I	MERTK_ENST00000421804.2_Missense_Mutation_p.L772I|MERTK_ENST00000409780.1_Missense_Mutation_p.L596I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	772	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATAGAAAGTCTTGCAGACCG	0.458000													18	70					5.35267e-07	6.09026e-07	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58136792	58136792	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58136792G>A	ENST00000184956.6	-	11	1730	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	HEATR6_ENST00000585976.1_Missense_Mutation_p.R572C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	572							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCTTTGTGGCGAATATAAGGC	0.348000													20	46					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111684	197111684	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197111684C>T	ENST00000367409.4	-	3	1954	c.1698G>A	c.(1696-1698)tcG>tcA	p.S566S	ASPM_ENST00000294732.7_Silent_p.S566S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	566					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGCTGTTGTCGAAGAGGGTG	0.348000													20	50					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840609	1840609	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1840609G>A	ENST00000331238.5	-	2	525	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	169					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGTCCACGAAGATGTCGT	0.632000													9	45					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183502819	183502819	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183502819C>A	ENST00000367537.3	+	11	1297	c.1102C>A	c.(1102-1104)Ctt>Att	p.L368I	SMG7_ENST00000507469.1_Missense_Mutation_p.L339I|SMG7_ENST00000347615.2_Missense_Mutation_p.L339I|SMG7_ENST00000515829.2_Missense_Mutation_p.L339I|SMG7_ENST00000508461.1_Missense_Mutation_p.L297I|SMG7_ENST00000456731.2_Missense_Mutation_p.L297I			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	339					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGTGTCTTTTCTTGGCATCCT	0.383000													16	21					2.32078e-09	2.7896e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179585127	179585127	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179585127A>G	ENST00000589042.1	-	80	23586	c.23362T>C	c.(23362-23364)Tct>Cct	p.S7788P	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6544P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7471P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7471	Ig-like 60.						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)			AACTTGACAGAGCAAGAACAC	0.408000													19	53					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104924348	104924348	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104924348G>A	ENST00000507740.1	+	4	1420	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	RIMS2_ENST00000436393.2_Missense_Mutation_p.R365H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	665					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R395H(1)|p.R670H(1)|p.R365H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAATAAGCGTCTAAAAGAT	0.353000										HNSCC(12;0.0054)			21	52					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729974	62729974	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62729974G>A	ENST00000349451.3	+	6	1347	c.935G>A	c.(934-936)aGc>aAc	p.S312N	OPRL1_ENST00000355631.4_Missense_Mutation_p.S312N|OPRL1_ENST00000336866.2_Missense_Mutation_p.S312N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	312					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TACGTCAACAGCTGCCTCAAC	0.637000													35	50					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86021859	86021859	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86021859T>A	ENST00000414626.2	+	1	963	c.74T>A	c.(73-75)cTt>cAt	p.L25H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L45H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	45					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATTCAACTCTTCATGCCGTC	0.274000													6	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478500	179478500	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179478500G>A	ENST00000589042.1	-	263	49734	c.49510C>T	c.(49510-49512)Cca>Tca	p.P16504S	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7631S|TTN_ENST00000359218.5_Missense_Mutation_p.P7564S|TTN_ENST00000342992.6_Missense_Mutation_p.P13936S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7439S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14863S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14863	Fibronectin type-III 19.						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)			TCCTTTACTGGCATCTTATTG	0.413000													36	81					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773431	58773431	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58773431A>G	ENST00000269829.4	+	7	1933	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A	CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.T459A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T345A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.T487A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T459A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T459A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAGAACGCACACTGGAGAAAA	0.433000													27	73					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40959686	40959686	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40959686G>A	ENST00000313164.9	+	12	1984	c.1625G>A	c.(1624-1626)aGc>aAc	p.S542N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	542	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACGACAGAAAGCACACAATGC	0.537000													14	22					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752459	19752459	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19752459T>G	ENST00000400113.3	-	3	406	c.302A>C	c.(301-303)aAt>aCt	p.N101T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	101					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCGTAATTATTGGCCGCATC	0.527000													15	116					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98530911	98530911	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98530911G>A	ENST00000359863.4	+	27	4109	c.3900G>A	c.(3898-3900)caG>caA	p.Q1300Q	TRRAP_ENST00000446306.3_Silent_p.Q1299Q|TRRAP_ENST00000355540.3_Silent_p.Q1300Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1300					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGACACCAGCCTGCCAACG	0.582000													9	23					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17074756	17074756	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17074756G>T	ENST00000262096.8	+	12	1833		c.e12+1			NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2							integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTTTATAAAAGTACGATAATT	0.269000													10	11					3.86212e-05	4.21111e-05	1	1	0
PBX1	5087	broad.mit.edu	37	1	164761784	164761784	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:164761784C>T	ENST00000420696.2	+	3	507	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PBX1_ENST00000367897.1_Missense_Mutation_p.R107W|PBX1_ENST00000401534.1_Missense_Mutation_p.R107W|PBX1_ENST00000560641.1_Missense_Mutation_p.R2W|PBX1_ENST00000559240.1_Missense_Mutation_p.R107W|PBX1_ENST00000540246.1_Missense_Mutation_p.R2W|PBX1_ENST00000540236.1_Missense_Mutation_p.R107W	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	107					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCAGCTGATGCGGCTGGACAA	0.627000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								23	26					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52183109	52183109	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52183109C>A	ENST00000354534.5	+	24	4504	c.4326C>A	c.(4324-4326)atC>atA	p.I1442I	SCN8A_ENST00000545061.1_Silent_p.I1401I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1442					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACATGTACATCTATTTTGTCA	0.398000													8	52					0.000157383	0.000169016	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52643768G>A	ENST00000356770.4	-	15	2034	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R710*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*			Q86U86	PB1_HUMAN	polybromo 1	710	Bromo 5.		R -> C.		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R710*(2)|p.R678*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTGACTTCGAATTTTTTCC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								24	70					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58701269	58701269	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58701269G>T	ENST00000254286.4	+	13	1334	c.1254G>T	c.(1252-1254)taG>taT	p.*418Y	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	0						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTGAGAAATAGAAGTTTGATT	0.338000													5	31					0.014758	0.015099	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3781414	3781414	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3781414C>T	ENST00000262367.5	-	30	5760	c.4951G>A	c.(4951-4953)Gac>Aac	p.D1651N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1613N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1651	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.D1651N(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTCGGGGTCGACGATGGGG	0.632000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						3	17					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13871097C>T	ENST00000265104.4	-	24	3717	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1205	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)					GCAGTCAGGGCGAACTTCAAG	0.403000									Kartagener syndrome				14	36					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47655594	47655594	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47655594C>T	ENST00000273857.4	-	13	1818	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N|CORIN_ENST00000502252.1_Missense_Mutation_p.D540N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	607	LDL-receptor class A 5.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACTGTCATCGTCACAGTCG	0.393000													4	53					0	0	1	0	0
RP11-3P17.4	0	broad.mit.edu	37	3	161146971	161146971	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:161146971G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GGAGCCAGTCGAACATATGCC	0.418000													15	54					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90630471	90630471	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90630471C>A	ENST00000330062.3	-	7	953	c.840G>T	c.(838-840)aaG>aaT	p.K280N	IDH2_ENST00000559482.1_Missense_Mutation_p.K171N|IDH2_ENST00000539790.1_Missense_Mutation_p.K150N|IDH2_ENST00000540499.2_Missense_Mutation_p.K228N	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	280					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGATCTTATTCTTGTCGAAGT	0.542000			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	51					2.08457e-15	2.74702e-15	1	1	0
WNT2B	7482	broad.mit.edu	37	1	113063068	113063068	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113063068A>C	ENST00000369684.4	+	5	1598	c.1113A>C	c.(1111-1113)agA>agC	p.R371S	WNT2B_ENST00000369686.4_Missense_Mutation_p.R352S|WNT2B_ENST00000256640.5_Missense_Mutation_p.R279S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	371					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAATGCAGAAATACTGTGG	0.532000													11	41					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23387299	23387299	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23387299G>A	ENST00000258729.3	-	7	1094	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	246	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGTAGAGAGGATAGTAATCG	0.458000													30	55					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37487503	37487503	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37487503T>G	ENST00000379066.1	-	15	2671	c.1909A>C	c.(1909-1911)Aac>Cac	p.N637H	PRKD3_ENST00000234179.2_Missense_Mutation_p.N637H			O94806	KPCD3_HUMAN	protein kinase D3	637	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CATTCCAGGTTTACAATCCCA	0.383000													12	13					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597398	136597398	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597398C>T	ENST00000531224.1	-	5	1517	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S420N|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S420N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S422N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S420N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	422					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTAGCAAAACTTTTACCCTG	0.418000													40	207					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72517751	72517751	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72517751C>T	ENST00000373208.1	+	20	2980	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R991W	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	991	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATCCAGCAGCGGCAGGTGGT	0.652000													19	46					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003380	57003380	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57003380C>T	ENST00000606794.1	-	1	1295	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	367						integral to plasma membrane	G-protein coupled receptor activity	p.E367K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGGATTTCTCGTGCATCTGT	0.647000													21	51					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37601234	37601234	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37601234T>C	ENST00000252011.3	+	3	240	c.207T>C	c.(205-207)aaT>aaC	p.N69N	DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Silent_p.N69N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	69	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGATAGAAAATTATCAGACAG	0.343000													9	19					0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93685599	93685599	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:93685599T>A	ENST00000013070.6	+	8	1088	c.852T>A	c.(850-852)tcT>tcA	p.S284S	UBR7_ENST00000416753.1_Silent_p.S208S	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	284							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AATCAAAATCTGGCTGCAAAC	0.383000													4	31					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188438	7188438	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7188438G>A	ENST00000542285.1	-	11	1509	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S				P00736	C1R_HUMAN	complement component 1, r subcomponent	506					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TGTTCCTTGGGATACAGGGTG	0.612000													7	56					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225662652	225662652	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225662652A>G	ENST00000409592.3	-	42	4636	c.4523T>C	c.(4522-4524)tTg>tCg	p.L1508S	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1514S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1514							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCTTTTCATCAATGAATTTTG	0.368000													22	27					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11364495	11364495	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11364495T>G	ENST00000315872.6	-	7	1408	c.960A>C	c.(958-960)gaA>gaC	p.E320D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E77D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	320	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTTGGAAATTTCTGCATCTT	0.323000													29	36					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398271	75398271	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:75398271G>T	ENST00000329047.8	+	2	965	c.153G>T	c.(151-153)aaG>aaT	p.K51N	SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.K50N|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.K62N|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.K69N|SEPT9_ENST00000590294.1_Missense_Mutation_p.K51N	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	69					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGGGCGTGAAGAACTCAGAAC	0.672000													26	43					3.73808e-20	5.11168e-20	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220501573	220501573	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220501573G>A	ENST00000358055.3	+	16	3024	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	SLC4A3_ENST00000373760.2_Missense_Mutation_p.E838K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E865K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E865K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E838K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	838	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTCATCTACGAGACCTTCTA	0.582000													37	90					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28776572	28776572	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28776572T>G	ENST00000225719.4	+	13	2951	c.2873_splice	c.e13-1	p.L959_splice	CPD_ENST00000543464.2_Splice_Site_p.L712_splice	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	959	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTTTGAAAGTTTGGGACAGAG	0.348000													8	70					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385316	21385316	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21385316C>A	ENST00000382932.2	-	2	853	c.786G>T	c.(784-786)caG>caT	p.Q262H	SLC7A4_ENST00000403586.1_Missense_Mutation_p.Q262H	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	262					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCGTGGGTTCTGGGCCTCCT	0.622000													20	34					8.10497e-08	9.43176e-08	1	1	0
KATNAL2	83473	broad.mit.edu	37	18	44579309	44579309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:44579309G>T	ENST00000356157.7	+	3	199	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_5'UTR			Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	61						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ACGACGGTTTGAAGTTTGTGA	0.333000													17	36					9.16793e-09	1.08598e-08	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58589167	58589167	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58589167C>A	ENST00000317147.5	-	21	3211	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.R955I|CNOT1_ENST00000441024.2_Missense_Mutation_p.R960I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	960					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTTTTAAATCTATCTAGTGC	0.468000													34	41					2.68265e-12	3.37613e-12	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31692174	31692174	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31692174A>C	ENST00000319386.3	+	14	3415	c.2422A>C	c.(2422-2424)Aat>Cat	p.N808H	CCDC129_ENST00000409210.1_Missense_Mutation_p.N864H|CCDC129_ENST00000407970.3_Missense_Mutation_p.N956H|CCDC129_ENST00000451887.2_Missense_Mutation_p.N982H			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	956	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACACTATTCAAATCTGCATCA	0.458000													5	9					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621302	41621302	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41621302G>A	ENST00000313860.7	+	8	834	c.780G>A	c.(778-780)ccG>ccA	p.P260P	LIMCH1_ENST00000503057.1_Silent_p.P101P|LIMCH1_ENST00000509277.1_Silent_p.P106P|LIMCH1_ENST00000514096.1_Silent_p.P113P|LIMCH1_ENST00000396595.3_Silent_p.P106P|LIMCH1_ENST00000508501.1_Silent_p.P260P|LIMCH1_ENST00000509638.1_Silent_p.P101P|LIMCH1_ENST00000381753.4_Silent_p.P106P|LIMCH1_ENST00000513024.1_Silent_p.P101P|LIMCH1_ENST00000509454.1_Silent_p.P108P|LIMCH1_ENST00000512632.1_Silent_p.P260P|LIMCH1_ENST00000511496.1_Silent_p.P101P|LIMCH1_ENST00000512946.1_Silent_p.P260P|LIMCH1_ENST00000512820.1_Silent_p.P260P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	260					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGGTGAGCCGAAATCAGCAG	0.532000													97	148					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921510	12921510	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12921510G>A	ENST00000240189.2	+	4	1388	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	434								p.R434L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCACTTCGGGCTGAGCTG	0.552000													72	61					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580627	580627	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:580627C>A	ENST00000327228.3	+	1	261	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	73	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGAAAATGATCTCCGAGGTGG	0.552000													20	37					2.37509e-13	3.04217e-13	1	1	0
KBTBD6	89890	broad.mit.edu	37	13	41706525	41706525	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706525C>A	ENST00000379485.1	-	1	357	c.123G>T	c.(121-123)aaG>aaT	p.K41N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	41							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGGCCGTGTCCTTTAATTCCT	0.607000													81	138					2.28164e-27	3.2341e-27	1	1	0
DSC1	1823	broad.mit.edu	37	18	28712606	28712606	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712606C>A	ENST00000257197.3	-	14	2424	c.2163G>T	c.(2161-2163)aaG>aaT	p.K721N	DSC1_ENST00000257198.5_Missense_Mutation_p.K721N|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	721					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAAAACATTTCTTGACTGTTC	0.333000													14	35					0.00185496	0.00194308	1	1	0
FIGNL1	63979	broad.mit.edu	37	7	50513646	50513646	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50513646T>G	ENST00000419119.1	-	2	2893	c.1340A>C	c.(1339-1341)aAa>aCa	p.K447T	FIGNL1_ENST00000356889.4_Missense_Mutation_p.K447T|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K447T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K447T			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	447					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATTAGAGTTTTACCAGTCCC	0.458000													19	24					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71489773	71489773	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71489773G>T	ENST00000296755.7	+	5	889	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	197						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGGACTGGAAGAACTCCAATC	0.433000													30	46					2.70662e-09	3.24368e-09	1	1	0
CHRM5	0	broad.mit.edu	37	15	34356260	34356260	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34356260C>A	ENST00000383263.5	+	3	2012	c.1342C>A	c.(1342-1344)Ctc>Atc	p.L448I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L448I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	448					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GAGTGCCATTCTCCTGGCCTT	0.512000													31	54					6.38683e-12	8.00204e-12	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67426472	67426472	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67426472C>A	ENST00000355520.5	-	10	1517	c.876G>T	c.(874-876)gaG>gaT	p.E292D	OPHN1_ENST00000540071.1_Missense_Mutation_p.E292D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	292	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGGTCTCTTTCTCATACTGGC	0.413000													20	53					2.39187e-15	3.14903e-15	1	1	0
RIF1	55183	broad.mit.edu	37	2	152303026	152303026	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152303026G>T	ENST00000243326.4	+	19	2664	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	RIF1_ENST00000428287.2_Missense_Mutation_p.E727D|RIF1_ENST00000453091.2_Missense_Mutation_p.E727D|RIF1_ENST00000444746.2_Missense_Mutation_p.E727D|RIF1_ENST00000430328.2_Missense_Mutation_p.E727D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	727					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGCAGAAGAGAACTTGTGCT	0.408000													23	46					1.10513e-12	1.40022e-12	1	1	0
PMAIP1	5366	broad.mit.edu	37	18	57569889	57569889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569889C>T	ENST00000269518.9	+	3	382	c.220C>T	c.(220-222)Cga>Tga	p.R74*	PMAIP1_ENST00000316660.6_Silent_p.V23V			Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				AGCTGGAAGTCGAGTGTGCTA	0.433000													24	38					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96052892	96052892	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:96052892G>T	ENST00000343702.4	-	10	2305	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Silent_p.V582V|NTN4_ENST00000538383.1_Silent_p.V582V|NTN4_ENST00000553059.1_Silent_p.V596V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	619	NTR.				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						AAATATCCATGACTTTTCTTC	0.368000													16	39					6.31663e-08	7.35827e-08	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47705107	47705107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47705107G>A	ENST00000397708.1	-	2	348	c.94C>T	c.(94-96)Cga>Tga	p.R32*	MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R32*			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	32					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGACCAAATCGAAATGGCGGC	0.463000													20	47					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113604	55113604	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55113604C>T	ENST00000370862.3	+	2	727	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	131					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)			CAAAGTGATTCCTTATCTACA	0.428000													46	84					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10318596	10318596	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:10318596A>C	ENST00000377086.1	+	4	431	c.229A>C	c.(229-231)Att>Ctt	p.I77L	KIF1B_ENST00000263934.6_Missense_Mutation_p.I77L|KIF1B_ENST00000377081.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377083.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377093.4_Missense_Mutation_p.I77L			O60333	KIF1B_HUMAN	kinesin family member 1B	77	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTACAATGACATTGGCAAGGA	0.373000													5	74					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766179	109766179	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109766179C>A	ENST00000368952.4	-	23	3248	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	MICAL1_ENST00000358577.3_Missense_Mutation_p.K881N|MICAL1_ENST00000358807.3_Missense_Mutation_p.K967N			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	967					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCATAGTTTCTTTTGCTGTT	0.542000													26	87					8.24728e-16	1.09065e-15	1	1	0
DST	667	broad.mit.edu	37	6	56484298	56484298	+	Nonsense_Mutation	SNP	G	G	A	rs141517051		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56484298G>A	ENST00000370765.6	-	23	4641	c.4534C>T	c.(4534-4536)Cga>Tga	p.R1512*	DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5191					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)			TTCTCATCTCGAAAAGAATGA	0.338000													8	21					0	0	1	0	0
MSI2	0	broad.mit.edu	37	17	55478757	55478757	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:55478757G>T	ENST00000284073.2	+	6	539	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MSI2_ENST00000416426.2_Missense_Mutation_p.K88N|MSI2_ENST00000579180.1_Missense_Mutation_p.K6N|MSI2_ENST00000322684.3_Missense_Mutation_p.K106N|MSI2_ENST00000442934.2_Missense_Mutation_p.K49N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	110	RRM 1.|RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.K106K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CAAGAACAAAGAAAATATTTG	0.448000			T	HOXA9	CML								29	49					9.80776e-20	1.33792e-19	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111492551	111492551	+	Silent	SNP	G	G	A	rs143008579		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111492551G>A	ENST00000369763.4	-	3	2181	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	LRIF1_ENST00000485275.2_Silent_p.F61F|LRIF1_ENST00000494675.1_Silent_p.F61F|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.F597F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TAAAGGAATCGAAACCTTCTC	0.383000													23	66					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644730	53644730	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53644730G>T	ENST00000452676.2	-	5	1780	c.1354C>A	c.(1354-1356)Cac>Aac	p.H452N	ZNF347_ENST00000601469.2_Missense_Mutation_p.H452N|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.H451N	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCGGTGTGAATTACCAGA	0.438000													46	74					1.23713e-20	1.6975e-20	1	1	0
NSD1	64324	broad.mit.edu	37	5	176639179	176639179	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176639179C>T	ENST00000439151.2	+	5	3824	c.3779C>T	c.(3778-3780)gCt>gTt	p.A1260V	NSD1_ENST00000354179.4_Missense_Mutation_p.A991V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1157V|NSD1_ENST00000347982.4_Missense_Mutation_p.A991V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1260					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACCACAGGCTGAGCTCCCT	0.413000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	23					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910423	23910423	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23910423C>T	ENST00000382298.3	-	10	8180	c.7592G>A	c.(7591-7593)aGa>aAa	p.R2531K	SACS_ENST00000402364.1_Missense_Mutation_p.R1781K|SACS_ENST00000382292.3_Missense_Mutation_p.R2531K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2531					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTCTTAATTCTGCTGGTCAA	0.393000													29	49					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770058	87770058	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770058C>T	ENST00000273905.6	-	1	358	c.211G>A	c.(211-213)Gga>Aga	p.G71R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	71						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CAGAGCAGTCCCACAGCAATG	0.532000													19	47					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140646849	140646849	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140646849G>A	ENST00000460843.1	+	7	1264	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.E413K|EHMT1_ENST00000334856.6_Missense_Mutation_p.E382K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	413					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCGGTGACGAGTCTGACCT	0.592000													11	20					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73069461	73069461	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73069461C>A	ENST00000429829.1	-	0	3127					NR_001564.2																						TAAGGAAATTCTTTGTCCTGA	0.383000													7	40					5.18039e-06	5.75679e-06	1	1	0
KIAA0586	9786	broad.mit.edu	37	14	58965566	58965566	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58965566G>A	ENST00000423743.3	+	28	4182	c.3924G>A	c.(3922-3924)gaG>gaA	p.E1308E	KIAA0586_ENST00000261244.5_Silent_p.E1276E|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.E1405E|KIAA0586_ENST00000556134.1_Silent_p.E1337E	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1276										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGCAGCAGAGAACATCTTAA	0.403000													5	33					0	0	1	0	0
IGHD	0	broad.mit.edu	37	14	106307241	106307241	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106307241T>C	ENST00000390556.2	-	0	796																											GCTCACCGGGTTCTCTCAGCG	0.687000													3	4					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875737	42875737	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42875737C>T	ENST00000431473.3	+	4	693	c.564C>T	c.(562-564)ttC>ttT	p.F188F		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	188	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTACCTGTTCCAGAAGTACG	0.512000													7	119					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33109973	33109973	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33109973T>G	ENST00000267068.3	-	2	1356	c.1192A>C	c.(1192-1194)Aat>Cat	p.N398H	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N398H|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	398										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGCAATTTATTTAACTTTTCC	0.373000													6	76					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167944083	167944083	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167944083C>T	ENST00000367840.3	+	4	362	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	DCAF6_ENST00000312263.6_Missense_Mutation_p.R90C|DCAF6_ENST00000432587.2_Missense_Mutation_p.R59C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.R90C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	90					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GACAACAATTCGTTCAGGGCA	0.313000													26	32					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473000													23	48					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39735436	39735436	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39735436C>A	ENST00000413851.2	-	1	210	c.172G>T	c.(172-174)Gat>Tat	p.D58Y		NM_172139.2	NP_742151.2			interferon, lambda 3																		ACTAAGGCATCTTTGGCCCTC	0.627000													19	26					3.99206e-14	5.17458e-14	1	1	0
TENM1	10178	broad.mit.edu	37	X	123519848	123519848	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123519848G>T	ENST00000422452.2	-	29	5818	c.5755C>A	c.(5755-5757)Ctc>Atc	p.L1919I	TENM1_ENST00000371130.3_Missense_Mutation_p.L1912I|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTGACTGAGAGCAGACAATCT	0.493000													19	112					5.35267e-07	6.09026e-07	1	1	0
DSEL	92126	broad.mit.edu	37	18	65178668	65178668	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178668T>G	ENST00000310045.7	-	2	4681	c.3208A>C	c.(3208-3210)Aaa>Caa	p.K1070Q	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1060						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTAAACAATTTTGCTAAATGC	0.333000													12	35					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368058	37368058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37368058G>T	ENST00000361924.2	+	14	5055	c.4681G>T	c.(4681-4683)Gaa>Taa	p.E1561*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1561	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.E1561*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACACAAAGAATTGGTTCA	0.308000													37	63					2.75727e-19	3.7504e-19	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208269408	208269408	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:208269408C>T	ENST00000367033.3	-	8	2705	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	650					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)		AACTTGAACTCGGTGCTGACA	0.483000													115	254					0	0	1	0	0
GRM8	0	broad.mit.edu	37	7	126409928	126409928	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126409928T>G	ENST00000339582.2	-	7	2156	c.1348A>C	c.(1348-1350)Aat>Cat	p.N450H	GRM8_ENST00000358373.3_Missense_Mutation_p.N450H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.N450H|GRM8_ENST00000405249.1_Missense_Mutation_p.N450H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	450					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATTAAAATTTACAGCCCGA	0.408000										HNSCC(24;0.065)			4	47					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201434523C>T	ENST00000357799.4	+	6	709	c.611C>T	c.(610-612)tCg>tTg	p.S204L	SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	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)	204					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						CAGGATAATTCGGAAGTGTTA	0.318000													16	53					0	0	1	0	0
KCNMB3	27094	broad.mit.edu	37	3	178968869	178968869	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178968869T>C	ENST00000314235.5	-	1	534	c.23A>G	c.(22-24)gAa>gGa	p.E8G	KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	8					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			AAATCCCAGTTCAGAGCTTGG	0.403000													23	43					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978690	119978690	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119978690A>C	ENST00000307142.4	+	5	3583	c.3387A>C	c.(3385-3387)ccA>ccC	p.P1129P	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	780						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						ACAAGAGACCAACTCCTTGGG	0.473000													22	59					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018782	154018782	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018782C>T	ENST00000496811.1	-	10	1432	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R451Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R451Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R451Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	451						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACCTTCTTCGCAGTTCCCT	0.373000													36	61					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846423	47846423	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846423G>T	ENST00000339488.4	-	3	2190	c.2157C>A	c.(2155-2157)atC>atA	p.I719I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	719						integral to membrane	hedgehog receptor activity										TCAAGGTGTAGATAAGGCACA	0.438000													13	28					5.50884e-06	6.10489e-06	1	1	0
FAR1	84188	broad.mit.edu	37	11	13736094	13736094	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13736094G>A	ENST00000354817.3	+	9	1138	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	332					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATCCTCTCGAACAGGCCTT	0.378000													6	26					0	0	1	0	0
CMTM5	0	broad.mit.edu	37	14	23847687	23847687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23847687G>A	ENST00000359320.3	+	2	700	c.256G>A	c.(256-258)Gac>Aac	p.D86N	CMTM5_ENST00000339180.4_Missense_Mutation_p.D86N|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.D86N|CMTM5_ENST00000555731.1_Missense_Mutation_p.D48N	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	86	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCAGCGCTTCGACCGAATTAA	0.567000													64	104					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5078340	5078340	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5078340C>T	ENST00000381652.3	+	16	2521	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	JAK2_ENST00000544510.1_Missense_Mutation_p.A527V|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.A676V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	676	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AATGTATGTGCCAAAAATATT	0.363000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				33	68					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337274	12337274	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12337274C>T	ENST00000358136.3	+	19	3759	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T1210M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1210					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGGGTAGCACGTTTGACATG	0.413000													23	110					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32827713	32827713	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32827713G>A	ENST00000357033.4	-	7	752	c.546C>T	c.(544-546)gaC>gaT	p.D182D	DMD_ENST00000288447.4_Silent_p.D174D|DMD_ENST00000378677.2_Silent_p.D178D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	182	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACTATTCCAGTCAAATAGGT	0.393000													24	38					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21072993	21072993	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21072993G>A	ENST00000255882.6	-	44	5320	c.5234C>T	c.(5233-5235)tCg>tTg	p.S1745L	PI4KA_ENST00000414196.3_Missense_Mutation_p.S497L|PI4KA_ENST00000572273.1_Missense_Mutation_p.S1687L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1687	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GATGATAGCCGACACGTTGGT	0.483000													41	70					0	0	1	0	0
ZNF724P	0	broad.mit.edu	37	19	23405633	23405633	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23405633G>T	ENST00000418100.1	-	4	1531	c.1414C>A	c.(1414-1416)Cat>Aat	p.H472N																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TCTCCAGTATGAATTATCCTA	0.368000													17	48					2.23348e-06	2.50077e-06	1	1	0
ELOVL7	79993	broad.mit.edu	37	5	60053346	60053346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:60053346G>T	ENST00000505959.1	-	10	1113	c.587C>A	c.(586-588)tCa>tAa	p.S196*	ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000508821.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.S209*			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	209					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAGCTGTAATGATGTCAAATA	0.353000													18	45					1.33834e-09	1.61283e-09	1	1	0
GALNT12	79695	broad.mit.edu	37	9	101594117	101594117	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101594117C>T	ENST00000375011.3	+	4	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	265						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGAACACCTTCGAATACCTGG	0.572000													25	23					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181891	57181891	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57181891A>C	ENST00000504228.1	+	6	2328	c.2223A>C	c.(2221-2223)gaA>gaC	p.E741D	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E741D|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E734D			Q6ZU35	K1211_HUMAN	KIAA1211	741										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAGCACGGAAGCTGAAAGCA	0.567000													37	75					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56470005	56470005	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56470005A>C	ENST00000370754.5	-	39	9321	c.9322T>G	c.(9322-9324)Ttt>Gtt	p.F3108V	DST_ENST00000361203.3_Missense_Mutation_p.F2930V|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.F2604V|DST_ENST00000370769.4_Missense_Mutation_p.F2930V|DST_ENST00000312431.6_Missense_Mutation_p.F2930V|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2930					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)			GATGTGTCAAAAATTTCTTCA	0.338000													8	14					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112733	136112733	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:136112733G>A	ENST00000298110.1	-	1	1100	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCCTCGACGTCATCCT	0.537000													47	127					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5944989	5944989	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5944989G>A	ENST00000379999.5	+	3	265	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FBXO18_ENST00000362091.4_Missense_Mutation_p.R3Q|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	3					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACAGTGAGACGGTTTAAGCGG	0.458000													16	47					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891906	44891906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44891906C>A	ENST00000330997.4	-	4	565	c.501G>T	c.(499-501)aaG>aaT	p.K167N	ZNF285_ENST00000591679.1_Missense_Mutation_p.K174N|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.K167N	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTAAATTCCCTTATATCTTC	0.463000													27	55					3.99451e-17	5.34789e-17	1	1	0
CPSF3L	54973	broad.mit.edu	37	1	1248900	1248900	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1248900C>T	ENST00000540437.1	-	12	1503	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	CPSF3L_ENST00000419704.1_Missense_Mutation_p.E243K|CPSF3L_ENST00000421495.2_Missense_Mutation_p.E86K|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E344K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E315K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E322K|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E246K	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	344						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGTTCTTTTCGTTTCCGGCC	0.592000													25	36					0	0	1	0	0
GOLGA2B	0	broad.mit.edu	37	12	100551073	100551073	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100551073A>G	ENST00000397112.4	-	0	1893				AC010203.1_ENST00000408843.1_RNA	NR_036632.1															large_intestine(1)|lung(3)	4						GGCCCCTCTGACCAATGTGCA	0.592000													42	74					0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1918133	1918133	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1918133C>T	ENST00000316097.8	+	4	411	c.144C>T	c.(142-144)tgC>tgT	p.C48C	SCAMP4_ENST00000409472.1_Silent_p.C48C|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	48					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTTTACTGCGCCACCCTCG	0.662000													14	32					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259557	89259557	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89259557C>A	ENST00000336596.2	+	3	926	c.701C>A	c.(700-702)tCt>tAt	p.S234Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y|EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	234	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.S234Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAACAATTCTAAGGAGGAA	0.488000										TSP Lung(6;0.00050)			33	139					1.99505e-19	2.71627e-19	1	1	0
GLI3	2737	broad.mit.edu	37	7	42116368	42116368	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42116368C>T	ENST00000395925.3	-	4	540	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	152					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						ATGGAGGAATCGGAGATGGAT	0.423000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				23	29					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97772451	97772451	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772451C>T	ENST00000344386.3	+	4	447	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.L95L|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	95										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCAGCAACTTCTGGATATATT	0.318000													10	27					0	0	1	0	0
ZNF300P1	0	broad.mit.edu	37	5	150311004	150311004	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150311004C>A	ENST00000520773.1	-	0	2317																											AGTATGTATTCTCTGATGTAT	0.423000													14	17					9.05144e-12	1.13153e-11	1	1	0
PAGE2B	389860	broad.mit.edu	37	X	55102524	55102524	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55102524A>G	ENST00000374971.1	+	2	102	c.50A>G	c.(49-51)gAc>gGc	p.D17G	PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	17										lung(3)	3						AGAGGAAATGACCAAGAGTCT	0.343000													14	33					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158062	154158062	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154158062T>C	ENST00000360256.4	-	14	4203	c.4003A>G	c.(4003-4005)Aaa>Gaa	p.K1335E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1335	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGAATTGTTTCAAAGCTCTC	0.398000													49	80					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341654	31341654	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31341654G>T	ENST00000544665.3	+	27	3160	c.3089G>T	c.(3088-3090)aGa>aTa	p.R1030I	ITGAM_ENST00000287497.8_Missense_Mutation_p.R1029I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1029					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCTGCCAGAGAATCCAGTGT	0.557000													22	55					7.45023e-12	9.31775e-12	1	1	0
RYR2	6262	broad.mit.edu	37	1	237756916	237756916	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237756916A>C	ENST00000366574.2	+	33	4733	c.4416A>C	c.(4414-4416)gaA>gaC	p.E1472D	RYR2_ENST00000360064.6_Missense_Mutation_p.E1470D|RYR2_ENST00000542537.1_Missense_Mutation_p.E1456D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1472	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGGAGATGAAAAAGGAAAAG	0.378000													17	35					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359844	77359844	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77359844G>A	ENST00000282849.5	-	13	2369	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTTGAGCCCGAAAATCCAAG	0.423000													21	29					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396938	85396938	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396938A>C	ENST00000316398.3	-	1	382	c.236T>G	c.(235-237)aTc>aGc	p.I79S		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	79						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCGCTTCAGGATGCAGATGAG	0.587000													4	44					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30032685	30032685	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30032685C>A	ENST00000434693.2	+	14	1989	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y	RBMS3_ENST00000396583.3_Missense_Mutation_p.S428Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S415Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S415Y|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000456853.1_Missense_Mutation_p.S428Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.S413Y|RBMS3_ENST00000383767.2_Missense_Mutation_p.S431Y	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	431						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCTGCATATTCTTACCAACAG	0.478000													4	73					2.56e-06	2.86294e-06	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7404318	7404318	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7404318G>A	ENST00000322644.6	+	12	2340	c.1941G>A	c.(1939-1941)acG>acA	p.T647T		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	647					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctCTGGGCACGTCAGCTGGCT	0.542000													21	43					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94369267	94369267	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94369267G>T	ENST00000260731.3	+	6	788		c.e6+1			NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11						blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATACTCTAGGTAAGAAAGCC	0.413000													82	180					3.3814e-41	4.88657e-41	1	1	0
SLC5A5	6528	broad.mit.edu	37	19	17986847	17986847	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17986847C>A	ENST00000222248.3	+	5	977	c.630C>A	c.(628-630)gtC>gtA	p.V210V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	210					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACGCGGTGTCATGCTTGTGG	0.607000													25	59					1.37878e-21	1.90629e-21	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203799314	203799314	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203799314A>C	ENST00000545588.1	+	7	4510	c.683A>C	c.(682-684)aAa>aCa	p.K228T	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K228T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K228T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	228							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAAGGAAAAATCTAAGAAG	0.348000													38	62					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235062	100235062	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100235062C>A	ENST00000305046.8	-	6	811	c.744G>T	c.(742-744)aaG>aaT	p.K248N	ADH1B_ENST00000394887.3_Missense_Mutation_p.K208N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	248					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GAATGGGTTTCTTGTAGTCTT	0.463000													103	219					3.22635e-48	4.68053e-48	1	1	0
GPX6	257202	broad.mit.edu	37	6	28472164	28472164	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28472164C>T	ENST00000361902.1	-	5	620	c.571G>A	c.(571-573)Gat>Aat	p.D191N	GPX6_ENST00000474923.1_Silent_p.P157P	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	191					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGGACTCCATCGGGCCCCACC	0.517000													17	48					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013143	57013143	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57013143C>T	ENST00000370706.4	+	10	2504	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTGGTTTCGCTGCAGTTT	0.413000													11	21					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2831329	2831329	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2831329C>T	ENST00000397885.2	-	6	738	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	178	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGAGTTGAATCGTGTGCAAAT	0.343000													13	31					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811614	5811614	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5811614T>G	ENST00000381095.3	-	6	2322	c.1695A>C	c.(1693-1695)aaA>aaC	p.K565N	NLGN4X_ENST00000381092.1_Missense_Mutation_p.K565N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.K585N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.K565N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.K565N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	565					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGCTGGTCTTTGGGATTAT	0.468000													38	91					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6294539	6294539	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6294539C>A	ENST00000362035.3	-	3	345	c.317G>T	c.(316-318)aGg>aTg	p.R106M	ICMT_ENST00000343813.5_Intron			O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	0					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGGAAAAATCCTACAGTGGCT	0.468000													3	9					0.00024832	0.000265255	1	1	0
MIS12	79003	broad.mit.edu	37	17	5392583	5392583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5392583C>A	ENST00000381165.3	+	3	954	c.401C>A	c.(400-402)aCt>aAt	p.T134N	MIS12_ENST00000573759.1_Missense_Mutation_p.T134N	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	134					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						GAATTATGTACTAAGCAGGCC	0.378000													10	99					0.0581538	0.0589718	1	1	0
NAA15	80155	broad.mit.edu	37	4	140258010	140258010	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140258010G>T	ENST00000296543.5	+	3	471	c.148G>T	c.(148-150)Gct>Tct	p.A50S	NAA15_ENST00000398947.1_Missense_Mutation_p.A50S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	50					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAAACCTTGGCTATGAAAGG	0.289000													35	33					6.29468e-14	8.13866e-14	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68183948	68183948	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68183948T>C	ENST00000262215.3	-	10	1950	c.1561A>G	c.(1561-1563)Atg>Gtg	p.M521V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	521					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCAATTTGCATCTTCAGATGT	0.318000													10	24					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169300626	169300626	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169300626C>A	ENST00000511577.1	-	32	4498	c.4251G>T	c.(4249-4251)aaG>aaT	p.K1417N	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1417N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1417							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGCAAATTTCTTTGGATTAC	0.318000													5	22					0.014758	0.015099	1	1	0
ETFDH	2110	broad.mit.edu	37	4	159627345	159627345	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159627345C>T	ENST00000511912.1	+	11	1622	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ETFDH_ENST00000307738.5_Silent_p.L383L	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	430					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAAAAGGACTCCATGTAACTG	0.373000													9	22					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945099	151945099	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945099G>T	ENST00000355193.2	-	14	2638	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.S807Y					lysine (K)-specific methyltransferase 2C																		GTTTCCAGCAGAGGAACTAAG	0.443000													38	405					2.59497e-14	3.37688e-14	1	1	0
FANCF	2188	broad.mit.edu	37	11	22647060	22647060	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22647060C>A	ENST00000327470.3	-	1	327	c.297G>T	c.(295-297)gaG>gaT	p.E99D	AC103801.2_ENST00000428556.2_Missense_Mutation_p.L2I	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	99					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGGCCCGGTTCTCCAGCAGGC	0.662000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	153					0.00116845	0.00122532	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178740621	178740621	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178740621C>A	ENST00000286063.5	-	5	1649	c.1332G>T	c.(1330-1332)ttG>ttT	p.L444F	PDE11A_ENST00000449286.2_Missense_Mutation_p.L86F|PDE11A_ENST00000389683.3_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.L194F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.L86F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	444	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTGGGGACATCAATTCAAAGG	0.388000									Primary Pigmented Nodular Adrenocortical Disease, Familial				17	39					2.4624e-09	2.95225e-09	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134991921	134991921	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134991921T>C	ENST00000535938.1	+	14	1873	c.1706T>C	c.(1705-1707)aTg>aCg	p.M569T	SAGE1_ENST00000324447.3_Missense_Mutation_p.M569T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M193T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M569T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	569										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCGGCCATGAGTACCAGG	0.413000													17	114					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422098	81422098	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81422098C>T	ENST00000541158.2	+	2	396	c.74C>T	c.(73-75)tCg>tTg	p.S25L	TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.S25L|TSHR_ENST00000342443.6_Missense_Mutation_p.S25L|TSHR_ENST00000554435.1_Missense_Mutation_p.S25L|TSHR_ENST00000554263.1_Missense_Mutation_p.S25L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	25					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATGGGGTGTTCGTCTCCACCC	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						75	119					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15549500	15549500	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15549500A>G	ENST00000357607.2	+	11	1177	c.989A>G	c.(988-990)tAc>tGc	p.Y330C	BMX_ENST00000342014.6_Missense_Mutation_p.Y330C|BMX_ENST00000348343.6_Missense_Mutation_p.Y330C			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	330	SH2.				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)					GTGGGAATGTACACAGTGTCC	0.338000													36	70					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134638579	134638579	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:134638579T>C	ENST00000367858.5	-	1	617	c.20A>G	c.(19-21)aAt>aGt	p.N7S	SGK1_ENST00000524929.1_Missense_Mutation_p.N7S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGGGAATCCATTCATGTCTTT	0.423000													45	108					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135757212	135757212	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135757212G>A	ENST00000250617.6	-	19	3194	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	ARHGEF6_ENST00000535227.1_Silent_p.I536I|ARHGEF6_ENST00000370622.1_Silent_p.I509I|ARHGEF6_ENST00000370620.1_Silent_p.I509I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	663					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTAGGCTTCGATCACTTTAA	0.413000													9	19					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676775	2676775	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2676775G>A	ENST00000399655.1	+	13	1975	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	CACNA1C_ENST00000399603.1_Silent_p.E570E|CACNA1C_ENST00000399617.1_Silent_p.E570E|CACNA1C_ENST00000399637.1_Silent_p.E570E|CACNA1C_ENST00000406454.3_Silent_p.E570E|CACNA1C_ENST00000399606.1_Silent_p.E570E|CACNA1C_ENST00000402845.3_Silent_p.E570E|CACNA1C_ENST00000399649.1_Silent_p.E570E|CACNA1C_ENST00000335762.5_Silent_p.E595E|CACNA1C_ENST00000347598.4_Silent_p.E570E|CACNA1C_ENST00000399638.1_Silent_p.E570E|CACNA1C_ENST00000399591.1_Silent_p.E570E|CACNA1C_ENST00000399621.1_Silent_p.E570E|CACNA1C_ENST00000327702.7_Silent_p.E570E|CACNA1C_ENST00000399595.1_Silent_p.E570E|CACNA1C_ENST00000399634.1_Silent_p.E570E|CACNA1C_ENST00000344100.3_Silent_p.E570E|CACNA1C_ENST00000480911.1_Silent_p.E570E|CACNA1C_ENST00000399601.1_Silent_p.E570E|CACNA1C_ENST00000399641.1_Silent_p.E570E|CACNA1C_ENST00000399644.1_Silent_p.E570E|CACNA1C_ENST00000399629.1_Silent_p.E570E|CACNA1C_ENST00000399597.1_Silent_p.E570E	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	570					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)	TCACGGCAGAGATGCTCCTGA	0.622000													4	12					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047346	67047346	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67047346G>T	ENST00000315962.4	+	3	836	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	155						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGCACACAAAGACTGCCAGGT	0.572000													36	82					3.33393e-15	4.38315e-15	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48252489	48252489	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48252489C>T	ENST00000400384.2	+	5	2047	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I126I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	337					cell cycle		ATP binding|MAP kinase activity	p.I337I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGACGACATCGTGCTGATGG	0.602000													34	64					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102442537	102442537	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102442537T>G	ENST00000399004.2	-	3	310	c.216A>C	c.(214-216)aaA>aaC	p.K72N	GIN1_ENST00000508629.1_Missense_Mutation_p.K72N	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	72					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTCTTAAGACTTTCTTTTTTT	0.348000													5	15					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54005024	54005024	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54005024C>T	ENST00000396328.1	-	7	895	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	WDR72_ENST00000559418.1_Missense_Mutation_p.R219Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R219Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R218Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	219										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTGCAAAATCGAATTGTCTG	0.323000													3	13					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38097797	38097797	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38097797A>G	ENST00000397166.2	+	6	1152	c.627A>G	c.(625-627)gaA>gaG	p.E209E	DDHD2_ENST00000520272.2_Silent_p.E209E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	209					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTATAGGAGAACCTTTACAAA	0.323000													9	17					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160519727	160519727	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160519727C>T	ENST00000368054.3	-	6	936	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CD84_ENST00000368051.3_Missense_Mutation_p.R268Q|CD84_ENST00000368048.3_Missense_Mutation_p.E312K|CD84_ENST00000311224.4_Missense_Mutation_p.E318K|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.E187K	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	318					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCACTTCGGAATAAACT	0.517000													25	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639177	179639177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179639177C>A	ENST00000589042.1	-	30	7038	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E2226*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2226*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2272*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2272*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2226*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E2272*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1996	Ig-like 12.						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)			TCCTGAAGTTCTTTCACAAAC	0.348000													13	18					0.000151284	0.00016287	1	1	0
PIGA	5277	broad.mit.edu	37	X	15349745	15349745	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15349745G>A	ENST00000333590.4	-	2	392	c.308C>T	c.(307-309)gCc>gTc	p.A103V	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	103					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGGGTCGTGGCTGTAGACTG	0.458000													42	91					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102537329	102537329	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102537329G>T	ENST00000321521.9	+	30	4236	c.3663G>T	c.(3661-3663)aaG>aaT	p.K1221N	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.K1242N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1221N			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1242					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGGAAAAAGAAATGAAATC	0.313000													13	19					0.0931896	0.0943983	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48630293	48630293	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630293G>A	ENST00000328333.8	-	6	868	c.761C>T	c.(760-762)gCg>gTg	p.A254V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A254V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	254	Fibronectin type-III 1.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCACTGGCCGCTGTCCACTG	0.617000													14	22					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722256	196722256	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196722256A>G	ENST00000312428.6	-	44	8359	c.8259T>C	c.(8257-8259)caT>caC	p.H2753H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2753	Stalk (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						TGTCATATTCATGAAGTGACT	0.368000													4	48					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67109320	67109320	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67109320C>T	ENST00000371037.4	+	7	454	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SGIP1_ENST00000371035.3_Missense_Mutation_p.S83F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S101F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S102F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S130F|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	126					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCATTGCAATCTAAAGACATT	0.373000													32	67					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049412	58049412	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049412T>G	ENST00000376233.3	+	4	1221	c.1040T>G	c.(1039-1041)tTt>tGt	p.F347C	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F334C	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAAACATTTGTTGGCCAT	0.438000													29	50					0	0	1	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95459799	95459799	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95459799T>G	ENST00000359204.4	-	2	262	c.65A>C	c.(64-66)aAa>aCa	p.K22T	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K22T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K22T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	22						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTTTTCCTTTTGCTGGATTC	0.299000													13	15					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128415645	128415645	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128415645T>C	ENST00000249389.2	-	1	199	c.200A>G	c.(199-201)cAg>cGg	p.Q67R		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	67					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GTTGAGGGGCTGCCGCAACTT	0.537000													52	118					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44187698	44187698	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44187698C>A	ENST00000260665.7	-	13	1621	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	LRPPRC_ENST00000409946.1_Missense_Mutation_p.D522Y	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	522					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATACAAAGTCTAAGTTCCCA	0.363000													7	57					1.12685e-05	1.24509e-05	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166165696	166165696	+	Silent	SNP	C	C	T	rs2228981		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166165696C>T	ENST00000357398.3	+	6	917	c.627C>T	c.(625-627)aaC>aaT	p.N209N	SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Silent_p.N209N			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	209					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATTTGTAAACCTAGGCAATG	0.348000													5	21					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404577	8404577	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:8404577G>A	ENST00000381196.4	-	33	4713	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I	PTPRD_ENST00000355233.5_Silent_p.I984I|PTPRD_ENST00000486161.1_Silent_p.I983I|PTPRD_ENST00000360074.4_Silent_p.I1377I|PTPRD_ENST00000397611.3_Silent_p.I980I|PTPRD_ENST00000397617.3_Silent_p.I983I|PTPRD_ENST00000397606.3_Silent_p.I983I|PTPRD_ENST00000537002.1_Silent_p.I980I|PTPRD_ENST00000540109.1_Silent_p.I1390I|PTPRD_ENST00000358503.5_Silent_p.I1368I|PTPRD_ENST00000356435.5_Silent_p.I1390I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1390	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCATATGCGATTACATTCG	0.388000										TSP Lung(15;0.13)			10	18					0	0	1	0	0
FAM162A	26355	broad.mit.edu	37	3	122121631	122121631	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121631G>T	ENST00000477892.1	+	2	143	c.59G>T	c.(58-60)aGa>aTa	p.R20I	FAM162A_ENST00000232125.5_Missense_Mutation_p.R10I|FAM162A_ENST00000469967.1_Missense_Mutation_p.R20I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	20						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTATGTGAAAGAGATGTTTCC	0.373000													8	21					0.00307968	0.00320271	1	1	0
TSPAN18	90139	broad.mit.edu	37	11	44931436	44931436	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44931436T>C	ENST00000340160.3	+	4	483	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	TSPAN18_ENST00000520358.2_Missense_Mutation_p.C82R	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	82						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGAGAACAAGTGTCTGCTGCT	0.647000													24	37					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75964567	75964567	+	Missense_Mutation	SNP	T	T	C	rs146422169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75964567T>C	ENST00000274364.6	+	23	3038	c.2741T>C	c.(2740-2742)tTt>tCt	p.F914S	IQGAP2_ENST00000379730.3_Missense_Mutation_p.F416S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F410S|IQGAP2_ENST00000502745.1_Missense_Mutation_p.F410S	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	914					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCCACTAAATTTATGGATACT	0.343000													5	25					0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44469369	44469369	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44469369G>A	ENST00000372542.1	+	3	824	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R180Q|SNX21_ENST00000342644.5_Missense_Mutation_p.R180Q			Q969T3	SNX21_HUMAN	sorting nexin family member 21	180	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCTGCACCGAAACCTGCAG	0.637000													50	126					0	0	1	0	0
DPH3	285381	broad.mit.edu	37	3	16302288	16302288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16302288C>A	ENST00000488423.1	-	3	327	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	DPH3_ENST00000383775.4_Nonsense_Mutation_p.E53*|DPH3_ENST00000285082.4_5'UTR	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	78					negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						TTAACTAATTCTTTGTTGGCT	0.413000													7	13					0.00307968	0.00320271	1	1	0
TPD52	7163	broad.mit.edu	37	8	80992558	80992558	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:80992558T>C	ENST00000520527.1	-	1	493	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	TPD52_ENST00000448733.2_Missense_Mutation_p.Q44R|TPD52_ENST00000379097.3_Missense_Mutation_p.Q44R|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.Q44R|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.Q44R|TPD52_ENST00000519303.2_Intron			P55327	TPD52_HUMAN	tumor protein D52	44					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ACCAAATTTCTGAAGAGTAGG	0.383000													13	20					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67168075	67168075	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67168075A>G	ENST00000219139.3	+	7	643	c.455A>G	c.(454-456)aAt>aGt	p.N152S	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.N152S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	152										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTGCAGCCCAATTTTGCCCAT	0.493000													27	48					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61002592	61002592	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61002592C>T	ENST00000406396.3	-	9	1169		c.e9-1		KDSR_ENST00000326575.5_Splice_Site|KDSR_ENST00000589592.1_Splice_Site	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase						3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AATTTCCTTGCTAAAAGAGAA	0.468000													20	29					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44789312	44789312	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44789312G>A	ENST00000260327.4	+	7	1421	c.858G>A	c.(856-858)ccG>ccA	p.P286P	CTDSPL2_ENST00000558373.1_Silent_p.P214P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Silent_p.P214P|CTDSPL2_ENST00000558966.1_Silent_p.P286P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	286	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GAAGCACACCGGAATTCTCCC	0.358000													16	43					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61341007	61341007	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341007G>A	ENST00000370501.3	+	1	819	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	150						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTGCGCGACGCCTGCACCTA	0.667000													36	75					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109414704	109414704	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109414704C>A	ENST00000372073.1	+	6	979	c.643C>A	c.(643-645)Ctc>Atc	p.L215I	TMEM164_ENST00000372072.3_Missense_Mutation_p.L66I|TMEM164_ENST00000372068.2_Missense_Mutation_p.L215I|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.L176I			Q5U3C3	TM164_HUMAN	transmembrane protein 164	215						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCAACTGGCCTCATGTTCTT	0.507000													34	371					1.62565e-12	2.05093e-12	1	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106083350	106083350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106083350C>T	ENST00000357242.5	+	9	1600	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.R470*|TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.R476*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	476						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAGTATGTTTCGAACCAAAAA	0.348000													33	67					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468000													25	31					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	858965	858965	+	Silent	SNP	G	G	A	rs112090528	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:858965G>A	ENST00000381922.3	-	7	1161	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ANGPT4_ENST00000546022.1_Silent_p.F353F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	353	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGGTCTCCGAAGCCCTATA	0.632000													13	19					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210267762	210267762	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210267762A>G	ENST00000537238.1	+	6	815	c.424A>G	c.(424-426)Aca>Gca	p.T142A	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.T225A|SYT14_ENST00000367019.1_Missense_Mutation_p.T180A|SYT14_ENST00000367015.1_Missense_Mutation_p.T142A|SYT14_ENST00000534859.1_Missense_Mutation_p.T180A|SYT14_ENST00000399639.2_Missense_Mutation_p.T180A|SYT14_ENST00000472886.1_Missense_Mutation_p.T180A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	180						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCTGTCATGTACACCCTCAGA	0.473000													21	44					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107420147	107420147	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107420147A>G	ENST00000394872.2	-	28	2844	c.2613T>C	c.(2611-2613)aaT>aaC	p.N871N	COL4A6_ENST00000545689.1_Silent_p.N870N|COL4A6_ENST00000372216.4_Silent_p.N871N|COL4A6_ENST00000538570.1_Silent_p.N870N|COL4A6_ENST00000334504.7_Silent_p.N870N			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	871	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTAGGCCTGGATTTCCAGGAA	0.527000									Alport syndrome with Diffuse Leiomyomatosis				62	104					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423783	88423783	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88423783G>A	ENST00000297203.2	-	2	659	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	158										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCACATCGTCGAGATACATAA	0.363000													24	61					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100191882	100191882	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:100191882T>C	ENST00000231461.5	-	4	1032	c.722A>G	c.(721-723)aAt>aGt	p.N241S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	241					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GATTAATGCATTAACCCACTC	0.423000													29	43					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119291	32119291	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32119291C>A	ENST00000333892.2	-	1	260	c.230G>T	c.(229-231)aGa>aTa	p.R77I		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	77						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GGAATAGCATCTTCTGTAGCA	0.483000													73	115					1.15074e-40	1.66211e-40	1	1	0
GPR153	387509	broad.mit.edu	37	1	6314737	6314737	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6314737C>T	ENST00000377893.2	-	2	488	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCATTCCACTCGAAGTCGGGG	0.617000													48	106					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94318621	94318621	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94318621A>C	ENST00000299001.6	+	6	857	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	216					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATCCTCAAAAAGTTGTCCAT	0.333000													33	75					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67333047	67333047	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67333047G>T	ENST00000355520.5	-	17	2037	c.1396C>A	c.(1396-1398)Cac>Aac	p.H466N	OPHN1_ENST00000540071.1_Missense_Mutation_p.H466N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	466	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGCTCTTTGTGAAGTCTATAG	0.363000													7	22					3.09899e-07	3.54467e-07	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52704608	52704608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704608G>T	ENST00000287727.3	+	4	1691	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.E507*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	507					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGAAGAAAAAGAAATAGAGGA	0.388000													12	47					0.00010058	0.000108553	1	1	0
RHD	6007	broad.mit.edu	37	1	25599130	25599130	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25599130T>G	ENST00000328664.4	+	1	247	c.92T>G	c.(91-93)tTt>tGt	p.F31C	RHD_ENST00000417538.2_Missense_Mutation_p.F31C|RHD_ENST00000454452.2_Missense_Mutation_p.F31C|RHD_ENST00000568195.1_Missense_Mutation_p.F31C|RHD_ENST00000357542.4_Missense_Mutation_p.F31C|RHD_ENST00000342055.5_Missense_Mutation_p.F31C|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.F31C	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	31						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTATTTTTTTACCCACTAT	0.527000													4	85					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142178199	142178199	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142178199G>A	ENST00000350721.4	-	43	7340	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2407	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACACTGGCGAAGTTCTTTT	0.383000								Other conserved DNA damage response genes					16	28					0	0	1	0	0
IGHG3	0	broad.mit.edu	37	14	106236822	106236822	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106236822G>A	ENST00000390551.2	-	0	385																											GCTTACCTGGGCACCGTGGGC	0.642000													88	152					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58489048	58489048	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58489048A>G	ENST00000357552.3	-	12	1037	c.812T>C	c.(811-813)aTg>aCg	p.M271T	SYCP2_ENST00000371001.2_Missense_Mutation_p.M271T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	271					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCTCCAAGCATGCCATTTAC	0.299000													3	10					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21399891	21399891	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21399891G>A	ENST00000313654.9	+	19	2475	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	745					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R745Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGACCTTCGATTTGGATTT	0.443000													19	39					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049878	239049878	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239049878C>A	ENST00000409223.1	+	2	590	c.483C>A	c.(481-483)aaC>aaA	p.N161K	KLHL30_ENST00000305959.4_Missense_Mutation_p.N143K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	161	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCGAGAGAACTTTGAGGCTG	0.642000													4	27					0.00024832	0.000265255	1	1	0
VPS16	64601	broad.mit.edu	37	20	2841107	2841107	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2841107A>T	ENST00000380445.3	+	5	454	c.382A>T	c.(382-384)Aac>Tac	p.N128Y	VPS16_ENST00000380469.3_Missense_Mutation_p.N128Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	128					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGTGCTCCAGAACCGGGTTCT	0.602000													30	49					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101340240	101340240	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101340240G>T	ENST00000259455.2	-	2	895	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	146					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGCCTTGGAGGGACTCTGCA	0.493000													22	47					6.44725e-10	7.85205e-10	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40944562G>A	ENST00000373198.3	-	12	2175	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	647	Fibronectin type-III 4.				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)				CACGGGCACCGAAAAGCACTC	0.517000													51	78					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90429920	90429920	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:90429920T>G	ENST00000335725.4	+	3	712	c.462T>G	c.(460-462)atT>atG	p.I154M	TDP1_ENST00000393454.2_Missense_Mutation_p.I154M|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.I154M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.I154M	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	154					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCCAGGACATTTGGGACATGC	0.522000								Repair of DNA-protein crosslinks					9	63					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48654089	48654089	+	Silent	SNP	T	T	C	rs149158920	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48654089T>C	ENST00000258648.2	-	6	556	c.531A>G	c.(529-531)ccA>ccG	p.P177P	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Silent_p.P131P	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	177					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTAAATCAGTTGGGTAGGGTC	0.388000													17	37					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075802	145075802	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145075802G>A	ENST00000369359.4	-	1	99	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGGACGCGCGACAGCAGCAG	0.697000			T	PDGFRB	MPD								8	117					0	0	1	0	0
C9orf170	401535	broad.mit.edu	37	9	89771500	89771500	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:89771500C>T	ENST00000375941.2	+	2	268	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	61										large_intestine(3)|lung(2)|prostate(1)	6						tctgtttctccggaaaaccct	0.378000													6	8					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17195593	17195593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17195593C>A	ENST00000377799.3	-	10	1035	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.E207*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.E249*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.E284*|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.E306*|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	330					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GTTATCTGTTCTTCTTGTGAC	0.343000													10	20					0.000442599	0.00046913	1	1	0
NEB	4703	broad.mit.edu	37	2	152574022	152574022	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152574022T>G	ENST00000397345.3	-	10	932	c.730A>C	c.(730-732)Aaa>Caa	p.K244Q	NEB_ENST00000603639.1_Missense_Mutation_p.K244Q|NEB_ENST00000604864.1_Missense_Mutation_p.K244Q|NEB_ENST00000409198.1_Missense_Mutation_p.K244Q|NEB_ENST00000172853.10_Missense_Mutation_p.K244Q|NEB_ENST00000427231.2_Missense_Mutation_p.K244Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	244					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCGAGACCTTTTTTGTAGGCA	0.353000													6	29					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76729109	76729109	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76729109A>G	ENST00000296679.4	-	13	1606	c.1231T>C	c.(1231-1233)Ttt>Ctt	p.F411L	WDR41_ENST00000414719.2_Missense_Mutation_p.F157L|WDR41_ENST00000507029.1_Missense_Mutation_p.F356L|WDR41_ENST00000512033.1_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	411										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AAGTATAGAAACATCTGTAAA	0.388000													4	22					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158603743	158603743	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:158603743T>G	ENST00000424310.2	-	5	877	c.518A>C	c.(517-519)aAa>aCa	p.K173T	RNF145_ENST00000519865.1_Missense_Mutation_p.K173T|RNF145_ENST00000518802.1_Missense_Mutation_p.K203T|RNF145_ENST00000520638.1_Missense_Mutation_p.K187T|RNF145_ENST00000521606.2_Missense_Mutation_p.K190T|RNF145_ENST00000274542.2_Missense_Mutation_p.K201T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	173						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATAGCAAATTTATTGATGAT	0.373000													16	23					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483000			T	BCL6	NHL								25	33					9.57634e-11	1.18295e-10	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152673366	152673366	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152673366A>G	ENST00000367255.5	-	70	11977	c.11376T>C	c.(11374-11376)gaT>gaC	p.D3792D	SYNE1_ENST00000423061.1_Silent_p.D3777D|SYNE1_ENST00000265368.4_Silent_p.D3792D|SYNE1_ENST00000341594.5_Silent_p.D3763D|SYNE1_ENST00000448038.1_Silent_p.D3777D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3792					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCATGTGATCATGAATCT	0.458000										HNSCC(10;0.0054)			31	62					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109124646	109124646	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109124646C>T	ENST00000261483.4	+	11	2824	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	591					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTTTTTCATTCGTTAATGGTT	0.313000													10	18					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96071887	96071887	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96071887G>T	ENST00000395813.1	+	10	828	c.642G>T	c.(640-642)aaG>aaT	p.K214N	CAST_ENST00000395812.2_Missense_Mutation_p.K173N|CAST_ENST00000511049.1_Missense_Mutation_p.K117N|CAST_ENST00000509903.1_Missense_Mutation_p.K109N|CAST_ENST00000510756.1_Missense_Mutation_p.K192N|CAST_ENST00000325674.7_Missense_Mutation_p.K192N|CAST_ENST00000309190.5_Missense_Mutation_p.K109N|CAST_ENST00000359176.4_Missense_Mutation_p.K195N|CAST_ENST00000508830.1_Missense_Mutation_p.K214N|CAST_ENST00000508608.1_Missense_Mutation_p.K177N|CAST_ENST00000504465.1_Intron|CAST_ENST00000511782.1_Missense_Mutation_p.K117N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.K131N|CAST_ENST00000338252.3_Missense_Mutation_p.K131N			P20810	ICAL_HUMAN	calpastatin	131							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAAAAGAAAAGAAATCATTAA	0.318000													7	17					0.000157383	0.000169016	1	1	0
CCDC93	54520	broad.mit.edu	37	2	118731517	118731517	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118731517C>A	ENST00000376300.2	-	11	992	c.855G>T	c.(853-855)gaG>gaT	p.E285D	CCDC93_ENST00000319432.5_Missense_Mutation_p.E284D|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	285										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGCTTGATCTCAGCAGAGC	0.552000													8	11					2.17888e-05	2.39107e-05	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125131132	125131132	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125131132G>T	ENST00000522917.1	+	40	5543	c.5337G>T	c.(5335-5337)gaG>gaT	p.E1779D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1779D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1779						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGCTGAGAAAAATCCTG	0.498000													11	31					6.40141e-05	6.95424e-05	1	1	0
ZNF460	10794	broad.mit.edu	37	19	57802428	57802428	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57802428C>T	ENST00000360338.3	+	3	841	c.519C>T	c.(517-519)ttC>ttT	p.F173F	ZNF460_ENST00000537645.1_Silent_p.F132F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTATAAATTCGAGGAAATGT	0.428000													32	64					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27680092	27680092	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27680092G>A	ENST00000525528.1	-	1	1113	c.20C>T	c.(19-21)aCt>aTt	p.T7I	BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.T7I|BDNF_ENST00000439476.2_Missense_Mutation_p.T7I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.T7I|BDNF_ENST00000395981.3_Missense_Mutation_p.T7I|BDNF_ENST00000533131.1_Missense_Mutation_p.T7I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000532997.1_Missense_Mutation_p.T7I|BDNF_ENST00000395980.2_Missense_Mutation_p.T7I|BDNF_ENST00000525950.1_Missense_Mutation_p.T7I|BDNF_ENST00000530861.1_Missense_Mutation_p.T7I|BDNF_ENST00000314915.6_Missense_Mutation_p.T15I|BDNF_ENST00000395986.2_Missense_Mutation_p.T22I|BDNF_ENST00000418212.1_Missense_Mutation_p.T7I|BDNF_ENST00000395978.3_Missense_Mutation_p.T7I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.T7I|BDNF_ENST00000420794.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.T89I	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	7						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						AATAACCATAGTAAGGAAAAG	0.488000													43	81					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89944398	89944398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89944398C>A	ENST00000320585.6	-	5	827	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	140	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.E140*(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATTTTCTTCATTCCCTGAT	0.303000													22	43					1.10923e-09	1.34134e-09	1	1	0
CCT4	10575	broad.mit.edu	37	2	62112207	62112207	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62112207G>A	ENST00000394440.3	-	2	424	c.127_splice	c.e2-1	p.A43_splice	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Splice_Site_p.A43_splice|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000538252.1_5'UTR	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	43					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATCAGCAACCGCTGCAGATGG	0.393000													6	37					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5757341	5757341	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5757341C>A	ENST00000414202.2	+	17	2073	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L512I|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L549I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L549I|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L628I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	628						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TATTCAAGTTCTTCAGGAGGT	0.388000													48	111					6.3008e-33	9.03351e-33	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155156193	155156193	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155156193G>T	ENST00000357232.3	-	25	8245	c.8246C>A	c.(8245-8247)tCt>tAt	p.S2749Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2749					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAAAGACAGACTCTTTTCT	0.443000													18	30					1.99824e-07	2.29918e-07	1	1	0
AVIL	10677	broad.mit.edu	37	12	58209764	58209764	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58209764T>G	ENST00000257861.3	-	1	490	c.60A>C	c.(58-60)agA>agC	p.R20S		NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	20	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCACCTCTATTCTCCAGACAA	0.572000													16	35					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382489	41382489	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41382489A>C	ENST00000377801.3	-	2	325	c.251T>G	c.(250-252)tTt>tGt	p.F84C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F84C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	84	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCCAGTAAAATTCATTGT	0.453000													20	31					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450583	85450583	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85450583G>T	ENST00000393217.2	+	8	2073	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	671										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGGCAAAAGAAATGACCAA	0.363000													14	32					4.36969e-10	5.32873e-10	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95847160	95847160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95847160C>T	ENST00000376887.4	-	9	1307	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	ABCC4_ENST00000412704.1_Missense_Mutation_p.R398H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R323H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R398H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	398					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGACGGTTGCGCTGTGATAT	0.378000													5	25					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91383672	91383672	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91383672C>T	ENST00000370440.1	-	5	3945	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	ZNF644_ENST00000347275.5_Missense_Mutation_p.G21E|ZNF644_ENST00000361321.5_Missense_Mutation_p.G21E|ZNF644_ENST00000337393.5_Missense_Mutation_p.G1243E|ZNF644_ENST00000467231.1_5'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1243A(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTCTTGCTTCCAGATCTTGA	0.358000													16	16					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37431146	37431146	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37431146C>T	ENST00000399215.1	-	1	1413	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	SETD4_ENST00000399207.1_Missense_Mutation_p.R14Q|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.R14Q|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000399208.2_Missense_Mutation_p.R14Q|SETD4_ENST00000399201.1_5'UTR|SETD4_ENST00000399205.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	14										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCAGAGTTTTCGTCTTCTGAT	0.348000													31	74					0	0	1	0	0
HIGD2A	192286	broad.mit.edu	37	5	175815966	175815966	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175815966T>C	ENST00000274787.2	+	1	219	c.146T>C	c.(145-147)gTa>gCa	p.V49A	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	49	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		AACCCGGTGGTACCCATAGGT	0.562000													26	58					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764991	135764991	+	Missense_Mutation	SNP	G	G	A	rs147323188		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135764991G>A	ENST00000250617.6	-	13	2610	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R342W|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R315W	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	469	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATAAGGTACCGCTCCTCTTTT	0.343000													13	21					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157178088	157178088	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157178088G>A	ENST00000362010.2	-	4	718	c.411C>T	c.(409-411)ctC>ctT	p.L137L	VEPH1_ENST00000543418.1_Silent_p.L137L|VEPH1_ENST00000537559.1_Silent_p.L137L|VEPH1_ENST00000468233.1_Silent_p.L137L|VEPH1_ENST00000494677.1_Silent_p.L137L|VEPH1_ENST00000392832.2_Silent_p.L137L|VEPH1_ENST00000392833.2_Silent_p.L137L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	137						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCCTCTGTGGAGGAATTTCA	0.443000													26	57					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991631	38991631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38991631C>A	ENST00000302328.3	-	1	421	c.223G>T	c.(223-225)Gga>Tga	p.G75*	SCN11A_ENST00000444237.2_Nonsense_Mutation_p.G75*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.G75*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.G75*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	75					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAGGCTTTCCTATGAGCTCA	0.562000													44	82					2.37825e-27	3.36934e-27	1	1	0
TTC29	83894	broad.mit.edu	37	4	147830222	147830222	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:147830222T>G	ENST00000513335.1	-	6	633	c.434A>C	c.(433-435)tAc>tCc	p.Y145S	TTC29_ENST00000325106.4_Missense_Mutation_p.Y119S|TTC29_ENST00000398886.4_Missense_Mutation_p.Y145S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	119							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATGGTACAGGTAATCCAGTTT	0.597000													13	79					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284000													5	11					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185697685	185697685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185697685G>A	ENST00000515030.1	-	7	1034	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R66*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R66*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R203*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R237*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	237					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCTGGCCTCGTTCCACCAGT	0.517000													28	53					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7735091	7735091	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7735091A>C	ENST00000572933.1	+	82	14184	c.12724A>C	c.(12724-12726)Aag>Cag	p.K4242Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K4242Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4242					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCTGGGGAAAGGCAAGATT	0.488000													13	31					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154778	9154778	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:9154778G>A	ENST00000382496.5	-	12	1968	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	435	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGATTCAGGGGTACCCGCACT	0.512000													35	54					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34026885	34026885	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:34026885C>T	ENST00000374181.3	-	4	1062	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	GRM4_ENST00000374177.3_Missense_Mutation_p.R229Q|GRM4_ENST00000535756.1_Missense_Mutation_p.R165Q|GRM4_ENST00000544773.1_Missense_Mutation_p.R129Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000538487.1_Missense_Mutation_p.R298Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R158Q	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	298					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTTGGCCCTTCGTGCTGCCTC	0.622000													17	25					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50244960	50244960	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50244960G>A	ENST00000298307.5	+	5	1393	c.532G>A	c.(532-534)Gat>Aat	p.D178N	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000557247.1_Missense_Mutation_p.D178N	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	178						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TTTTGAATTCGATGAAACATC	0.303000													21	35					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85623738	85623738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85623738C>A	ENST00000280245.4	+	9	1353	c.841C>A	c.(841-843)Ctg>Atg	p.L281M	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Intron	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	265										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCGTCATCTGCTGCTGCTGCC	0.512000													6	204					3.59834e-05	3.93264e-05	1	1	0
SFTPC	6440	broad.mit.edu	37	8	22019365	22019365	+	Silent	SNP	C	C	T	rs144603526	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:22019365C>T	ENST00000521315.1	+	1	56	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SFTPC_ENST00000318561.3_Silent_p.V8V|SFTPC_ENST00000437090.2_Silent_p.V8V|SFTPC_ENST00000522109.1_Silent_p.V8V|SFTPC_ENST00000520605.1_Silent_p.V8V|SFTPC_ENST00000524255.1_Silent_p.V8V			P11686	PSPC_HUMAN	surfactant protein C	8					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCAAAGAGGTCCTGATGGAGA	0.592000													33	76					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154004474	154004474	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154004474A>C	ENST00000369550.5	+	14	1561	c.1351A>C	c.(1351-1353)Agt>Cgt	p.S451R	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	451	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGCGAGAGAGTGAGAGTGA	0.458000									Congenital Dyskeratosis				22	48					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	438					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512000													54	90					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786762	35786762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35786762G>T	ENST00000361922.4	+	4	443	c.293G>T	c.(292-294)cGa>cTa	p.R98L	MAG_ENST00000537831.2_Missense_Mutation_p.R73L|MAG_ENST00000392213.3_Missense_Mutation_p.R98L|MAG_ENST00000597035.1_Intron	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	98	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGGGCCTGCGAAACTGCACC	0.642000													75	127					2.23399e-28	3.17216e-28	1	1	0
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179664562C>T	ENST00000589042.1	-	5	883	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_ENST00000342175.6_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000342992.6_Missense_Mutation_p.R220Q|TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000591111.1_Missense_Mutation_p.R220Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220P(6)		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)			CTTTTCAATTCGGGTTTGTCT	0.403000													18	31					0	0	1	0	0
UBE2M	9040	broad.mit.edu	37	19	59067707	59067707	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59067707A>C	ENST00000253023.3	-	5	965	c.387T>G	c.(385-387)atT>atG	p.I129M		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	129					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		GCAGGCCATAAATTATGGAGT	0.547000													28	63					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140093883	140093883	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140093883C>T	ENST00000409012.4	-	1	1367	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.S366S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	427					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CAGCTTCTTCCGAAGCAGCCG	0.657000													8	22					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57573508	57573508	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57573508G>A	ENST00000524630.1	+	10	2389		c.e10+1		CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGGGCAAAGGTGAGTCTTGG	0.483000													5	11					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100057121	100057121	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100057121C>A	ENST00000369214.1	+	3	626	c.365C>A	c.(364-366)tCt>tAt	p.S122Y	PRDM13_ENST00000369215.4_Missense_Mutation_p.S112Y	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTGTGGTATTCTAACTCCTTG	0.537000													11	22					2.27111e-07	2.60515e-07	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86383317	86383317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86383317T>G	ENST00000604798.1	-	6	1212	c.8A>C	c.(7-9)aAa>aCa	p.K3T	MGAT4C_ENST00000549405.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K32T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000552435.2_Missense_Mutation_p.K3T			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	3					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						TTGATGAAATTTAAACATTCT	0.318000													9	16					0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138440590	138440590	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138440590A>C	ENST00000539850.1	+	5	451	c.425A>C	c.(424-426)gAa>gCa	p.E142A	OBP2A_ENST00000340780.3_Missense_Mutation_p.N164H|OBP2A_ENST00000342114.4_Missense_Mutation_p.E119A|OBP2A_ENST00000371776.1_Missense_Mutation_p.E142A			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	142					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCCTGGAAGAATTTAAGAAA	0.597000													34	66					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42225299	42225299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42225299G>T	ENST00000319977.4	+	3	365	c.128G>T	c.(127-129)aGa>aTa	p.R43I	C17orf53_ENST00000585683.1_Missense_Mutation_p.R43I|C17orf53_ENST00000245382.6_Missense_Mutation_p.R43I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	43										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGCGCCTGAGACCTGTCTCT	0.572000													6	86					0.00116845	0.00122532	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17598015	17598015	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17598015A>C	ENST00000252595.7	+	3	692	c.595A>C	c.(595-597)Agt>Cgt	p.S199R	SLC27A1_ENST00000442725.1_Missense_Mutation_p.S199R|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S20R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	199	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGGGGAAAAGTTTGATCAA	0.647000													10	51					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103406031	103406031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103406031T>G	ENST00000361246.2	-	34	5031	c.4743A>C	c.(4741-4743)aaA>aaC	p.K1581N		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1581					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGATATCATTTTGGATCTCA	0.557000													16	166					0	0	1	0	0
C1ORF220	0	broad.mit.edu	37	1	178514661	178514661	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178514661A>C	ENST00000367636.4	+	2	385	c.47A>C	c.(46-48)aAa>aCa	p.K16T	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							caagtaaagaaagtgagattg	0.478000													8	11					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109863801	109863801	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109863801C>A	ENST00000310903.5	+	18	1834	c.1728C>A	c.(1726-1728)atC>atA	p.I576I	MYO1H_ENST00000431443.2_Silent_p.I586I			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACCCTCATCTCTAAGGAGC	0.502000													18	31					6.94344e-10	8.4399e-10	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106676	168106676	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168106676C>A	ENST00000409195.1	+	9	8863	c.8774C>A	c.(8773-8775)tCt>tAt	p.S2925Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2925Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2703Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2750					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						CAGAACAAATCTTTCTTTTCC	0.378000													29	53					1.38854e-25	1.95732e-25	1	1	0
CEP55	55165	broad.mit.edu	37	10	95263099	95263099	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95263099G>A	ENST00000371485.3	+	3	717	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	138					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GCAACCTCACGAATTGCTGAA	0.393000													20	41					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113614583	113614583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113614583C>A	ENST00000200135.3	-	10	1596	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	484					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CCATTAATTTCTTCACAGACT	0.418000													30	63					6.00712e-18	8.10414e-18	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38750826	38750826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38750826G>A	ENST00000359357.3	+	15	1909	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R769H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R552H					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						GCTGTCATCCGTCAGTATAAC	0.383000													16	33					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26022301	26022301	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26022301T>C	ENST00000435504.4	-	5	649	c.356A>G	c.(355-357)gAt>gGt	p.D119G	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.D91G|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	119	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCACCATCACTGCTGCT	0.478000													13	90					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330920	21330920	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21330920A>C	ENST00000313654.9	+	5	964	c.723A>C	c.(721-723)aaA>aaC	p.K241N	LAMA3_ENST00000399516.3_Missense_Mutation_p.K241N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	241	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGTGCAAAAAATTTTACTT	0.423000													32	41					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51218983	51218983	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51218983C>T	ENST00000293441.1	-	3	482	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R155Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R155Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	155					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTCTTGTATCGGAACTGAGG	0.532000													44	79					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140475653	140475653	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140475653G>A	ENST00000194155.4	+	1	1427	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTCGGGAC	0.537000													72	150					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26114738	26114738	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26114738C>T	ENST00000313735.6	-	5	666	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	145					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGACAAATTCGATAGCTTGA	0.527000													50	81					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74698848	74698848	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74698848G>T	ENST00000380494.5	-	10	1643	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.F322L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.F322L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	322	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CAGCATCAAAGAACTCTTCTT	0.318000													13	28					0.00010058	0.000108553	1	1	0
MTUS2	23281	broad.mit.edu	37	13	30071434	30071434	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:30071434C>T	ENST00000431530.3	+	11	3727	c.3669C>T	c.(3667-3669)ttC>ttT	p.F1223F	MTUS2_ENST00000380808.2_Silent_p.F192F|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.F102F	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1213						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						CCCGCCGCTTCGAAGAGGCCT	0.617000													6	14					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134995041	134995041	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134995041C>T	ENST00000535938.1	+	20	2867	c.2700C>T	c.(2698-2700)caC>caT	p.H900H	SAGE1_ENST00000324447.3_Silent_p.H900H|SAGE1_ENST00000537770.1_Silent_p.H524H|SAGE1_ENST00000370709.3_Silent_p.H900H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	900										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGTTAAGCACATGAGAAAAA	0.378000													3	16					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123677048	123677048	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123677048A>T	ENST00000309154.2	-	1	47	c.10T>A	c.(10-12)Tgg>Agg	p.W4R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACAGTGCTCCAGTTTCCCATG	0.418000													4	42					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574798	53574798	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53574798G>T	ENST00000342160.3	-	67	10929	c.10472C>A	c.(10471-10473)tCt>tAt	p.S3491Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.S3491Y|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3491	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ggtggtggtagatgtggttga	0.587000													10	22					0.00621372	0.0064192	1	1	0
TAS2R20	259295	broad.mit.edu	37	12	11150374	11150374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11150374G>A	ENST00000538986.1	-	1	100	c.101C>T	c.(100-102)gCc>gTc	p.A34V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	34					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGACCCAGGCAATGAAATT	0.368000													20	39					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349269	90349269	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90349269G>A	ENST00000300060.6	-	2	859	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	182	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)	ACTCCCCCTCGAACTCGCTGT	0.607000													10	107					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262229	15262229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262229C>A	ENST00000256953.2	-	5	751	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	RERG_ENST00000546331.1_Nonsense_Mutation_p.E120*|RERG_ENST00000536465.1_Nonsense_Mutation_p.E139*|RERG_ENST00000538313.1_Nonsense_Mutation_p.E139*	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	139					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CAAGCCAATTCTGTGGCCAGC	0.493000													5	128					0.000602214	0.000636035	1	1	0
PRPF38B	55119	broad.mit.edu	37	1	109242061	109242061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109242061C>T	ENST00000370021.1	+	7	1364	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R354*			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	354					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ggacagggatcgagaaagaga	0.468000													6	48					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50943287	50943287	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50943287C>T	ENST00000374103.4	-	23	3105	c.3020G>A	c.(3019-3021)gGc>gAc	p.G1007D	OGDHL_ENST00000419399.1_Missense_Mutation_p.G950D|OGDHL_ENST00000432695.1_Missense_Mutation_p.G798D|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	1007					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						AAATGTCTTGCCCTCAAAGGC	0.572000													49	70					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015325	40015325	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:40015325T>C	ENST00000336649.4	+	6	493	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y165H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	165					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GATGGTCGAGTACTCCCTGGA	0.642000													7	114					0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436535	113436535	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113436535G>A	ENST00000313341.3	-	2	423	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	33					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CTGGATGACAGCGGGGTCAGG	0.701000													9	26					0	0	1	0	0
SDAD1P1	0	broad.mit.edu	37	8	26237612	26237612	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26237612G>T	ENST00000519902.1	-	0	2336																											GCTTACCCCAGAATTTCTTCT	0.408000													12	30					6.40141e-05	6.95424e-05	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23543617	23543617	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23543617C>T	ENST00000300619.7	-	4	2369	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ZNF91_ENST00000397082.2_Missense_Mutation_p.A690T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	722						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CGATTAAAAGCTTTGCCACAT	0.338000													7	19					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8553380	8553380	+	Nonsense_Mutation	SNP	G	G	A	rs137852516		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:8553380G>A	ENST00000262648.3	-	6	933	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	262	Fibronectin type-III 1.		R -> P (in KAL1).		axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GCAGCCACTCGAAACTGGTAC	0.512000													28	37					0	0	1	0	0
ZIM3	0	broad.mit.edu	37	19	57646993	57646993	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57646993G>T	ENST00000269834.1	-	5	1097	c.712C>A	c.(712-714)Ctc>Atc	p.L238I		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTGAAAGAGATTTGACTTC	0.403000													28	51					4.87955e-14	6.31333e-14	1	1	0
AMPD2	271	broad.mit.edu	37	1	110163640	110163640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110163640G>T	ENST00000256578.3	+	1	365	c.5G>T	c.(4-6)aGa>aTa	p.R2I	AMPD2_ENST00000528667.1_Missense_Mutation_p.R2I|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	2					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GACAACATGAGAAATCGTGGC	0.647000													10	14					0.00010058	0.000108553	1	1	0
RRNAD1	51093	broad.mit.edu	37	1	156703223	156703223	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156703223G>A	ENST00000368216.4	+	5	1177	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RRNAD1_ENST00000476229.1_Missense_Mutation_p.E60K|RRNAD1_ENST00000368218.4_Missense_Mutation_p.E183K	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	183						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GAAGAGCATCGAAGGGGATCA	0.597000													29	76					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188696	98188696	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188696T>G	ENST00000332650.5	+	1	373	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAAGGATTTCCCTCTATG	0.433000													65	109					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487801	121487801	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121487801C>A	ENST00000296600.4	+	2	499	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	39						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GACTCCTATTCTAGCCTTTCC	0.383000													49	59					2.46787e-29	3.51135e-29	1	1	0
APC	324	broad.mit.edu	37	5	112177901	112177901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112177901C>T	ENST00000457016.1	+	16	6990	c.6610C>T	c.(6610-6612)Cga>Tga	p.R2204*	APC_ENST00000508376.2_Nonsense_Mutation_p.R2204*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*			P25054	APC_HUMAN	adenomatous polyposis coli	2204	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.?(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)		TGGAAAAGTTCGATCTAATTC	0.363000		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)			22	48					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057897	114057897	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:114057897G>A	ENST00000462705.1	-	12	2783	c.1962C>T	c.(1960-1962)atC>atT	p.I654I	ZBTB20_ENST00000357258.3_Silent_p.I654I|ZBTB20_ENST00000474710.1_Silent_p.I727I|ZBTB20_ENST00000393785.2_Silent_p.I654I|ZBTB20_ENST00000481632.1_Silent_p.I654I|ZBTB20_ENST00000471418.1_Silent_p.I654I|ZBTB20_ENST00000464560.1_Silent_p.I654I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGAACTGCTCGATTTGGTCAA	0.522000													29	63					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557675	210557675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210557675G>T	ENST00000360351.4	+	7	1287	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E257*|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	261					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACTCCAAAAGAACAAAAGGA	0.498000													24	57					1.10923e-09	1.34134e-09	1	1	0
ZNF705A	440077	broad.mit.edu	37	12	8329731	8329731	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8329731C>A	ENST00000359286.4	+	5	544	c.455C>A	c.(454-456)tCt>tAt	p.S152Y		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGAAAATCTCTTCGTAAT	0.358000													13	170					0.000151284	0.00016287	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134147599	134147599	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134147599A>C	ENST00000389887.5	+	3	2651	c.155A>C	c.(154-156)aAt>aCt	p.N52T	GLB1L3_ENST00000431683.2_Missense_Mutation_p.N52T			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	52					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCAGGTTTAATTGGTCTCAT	0.562000													4	9					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817521	7817521	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7817521C>A	ENST00000329434.2	-	1	999	c.969G>T	c.(967-969)taG>taT	p.*323Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGATAGGGTTCTATGTAATAT	0.348000													33	65					1.06647e-15	1.40869e-15	1	1	0
MT-ND5	4540	broad.mit.edu	37	MT	13145	13145	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrM:13145G>A	ENST00000361567.2	+	1	809	c.809G>A	c.(808-810)aGc>aAc	p.S270N				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	270					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AGCAGAAAATAGCCCACTAAT	0.483000													11	197					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25387575	25387575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25387575C>T	ENST00000405623.1	-	2	522	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	POMC_ENST00000264708.3_Missense_Mutation_p.E23K|POMC_ENST00000395826.2_Missense_Mutation_p.E23K|POMC_ENST00000380794.1_Missense_Mutation_p.E23K			P01189	COLI_HUMAN	proopiomelanocortin	23					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CCACGCACTTCCATGGAGGCC	0.617000													31	65					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006621	24006621	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24006621G>A	ENST00000328046.8	-	4	1487	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	411										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AACTGGATAAGGATCCACAAA	0.428000													44	68					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491928	71491928	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71491928G>A	ENST00000296755.7	+	5	3044	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	916						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCCCGTCGAGAAGCAGGG	0.502000													7	134					0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805494	17805494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17805494G>A	ENST00000382247.1	-	3	1331	c.271C>T	c.(271-273)Cga>Tga	p.R91*	DCAF16_ENST00000536863.1_Nonsense_Mutation_p.R91*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	91						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CCTATCTCTCGAAGTATATGG	0.448000													53	89					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95751803	95751803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95751803C>A	ENST00000311106.3	-	6	880	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E168*|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	215	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGCAATTTCTCCTGCACAT	0.383000													18	31					6.33239e-15	8.29613e-15	1	1	0
HCN3	57657	broad.mit.edu	37	1	155252476	155252476	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155252476T>G	ENST00000368358.3	+	2	561	c.553T>G	c.(553-555)Tac>Gac	p.Y185D	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	185						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)			CCCTGTGGATTACATCTTCCT	0.597000													22	54					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53254069	53254069	+	Translation_Start_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53254069C>T	ENST00000452825.3	-	1	535	c.3G>A	c.(1-3)atG>atA	p.M1I	KDM5C_ENST00000375401.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375379.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375383.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000404049.3_Start_Codon_SNP_p.M1I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	0					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						ACCCCGGCTCCATGGTGGGCC	0.652000			"""N, F, S"""		clear cell renal carcinoma								17	15					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19709225	19709225	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19709225G>A	ENST00000397977.3	+	17	2440	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	681					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCCATGGAGCGCCAGGTCTCC	0.537000													27	60					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100019523	100019523	+	Missense_Mutation	SNP	C	C	A	rs1046340		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100019523C>A	ENST00000258428.3	-	20	3441	c.3213G>T	c.(3211-3213)aaG>aaT	p.K1071N	REV1_ENST00000393445.3_Missense_Mutation_p.K1070N|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1071					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tgtttcttttcttttctttCA	0.383000								Direct reversal of damage					10	22					0.335167	0.336004	1	1	0
DHH	50846	broad.mit.edu	37	12	49484166	49484166	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49484166C>A	ENST00000266991.2	-	3	973	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	223					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AAAACCCAGTCTCCGCGGTGC	0.677000													5	14					0.217242	0.218251	1	1	0
PELI3	246330	broad.mit.edu	37	11	66239872	66239872	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66239872G>A	ENST00000349459.6	+	4	599	c.315G>A	c.(313-315)tcG>tcA	p.S105S	PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.S129S|PELI3_ENST00000320740.7_Silent_p.S129S	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	129						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACAGCATCTCGTATACACTGT	0.532000													31	64					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138329467	138329467	+	Missense_Mutation	SNP	C	C	T	rs143599875		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138329467C>T	ENST00000421622.1	-	5	632	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	SVOPL_ENST00000288513.5_Missense_Mutation_p.V110I|SVOPL_ENST00000436657.1_Missense_Mutation_p.V110I|SVOPL_ENST00000419765.3_Missense_Mutation_p.V262I			Q8N434	SVOPL_HUMAN	SVOP-like	262						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						CTCACCAGGACGGGCTCCACC	0.637000													16	49					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081612	141081612	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141081612C>T	ENST00000389484.3	-	81	13335	c.12364G>A	c.(12364-12366)Gat>Aat	p.D4122N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4122					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)		TCAAAGATATCGATCCTATGT	0.303000										TSP Lung(27;0.18)			11	21					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101010188	101010188	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:101010188G>A	ENST00000264249.3	-	7	975	c.590C>T	c.(589-591)tCt>tTt	p.S197F	CHST10_ENST00000542617.1_Missense_Mutation_p.S245F|CHST10_ENST00000409701.1_Missense_Mutation_p.S197F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	197					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTTAAATGCAGAAATAAGTCT	0.393000													30	57					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61444313	61444313	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61444313T>C	ENST00000261249.6	-	3	1095	c.711A>G	c.(709-711)gtA>gtG	p.V237V	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	237						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTATTTTATTTACTGCTGAGG	0.313000													14	23					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848209	83848209	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:83848209G>A	ENST00000349129.2	+	21	4708	c.4448G>A	c.(4447-4449)cGa>cAa	p.R1483Q	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1474Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1464Q|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1483					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATAGGCAATCGAAACATGCAA	0.368000													19	35					0	0	1	0	0
USP29	0	broad.mit.edu	37	19	57640183	57640183	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640183T>G	ENST00000254181.4	+	4	594	c.140T>G	c.(139-141)tTt>tGt	p.F47C	USP29_ENST00000598197.1_Missense_Mutation_p.F47C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	47					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTGGAAAATTTATAAGAATT	0.363000													9	25					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724487	50724487	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:50724487C>T	ENST00000404971.1	-	15	4322	c.2983G>A	c.(2983-2985)Gtt>Att	p.V995I	NRXN1_ENST00000405472.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V955I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V955I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406316.2_Missense_Mutation_p.V955I|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	955	Laminin G-like 5.				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)			ACTAATTCAACCACAATAAAG	0.338000													4	37					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183821229	183821229	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183821229C>T	ENST00000360982.2	-	21	2890	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R705Q	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	705					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAAATATTCTCGTGGGGTAAA	0.333000													25	36					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148768120	148768120	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148768120A>C	ENST00000310053.5	-	15	1709	c.1516T>G	c.(1516-1518)Ttt>Gtt	p.F506V	HLTF_ENST00000494055.1_Missense_Mutation_p.F506V|HLTF_ENST00000392912.2_Missense_Mutation_p.F506V|HLTF_ENST00000465259.1_Missense_Mutation_p.F505V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	506	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAACATAAAAATTCAAGTGT	0.303000													16	32					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55759161	55759161	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55759161T>G	ENST00000321149.3	-	5	971	c.604A>C	c.(604-606)Aga>Cga	p.R202R	DYX1C1_ENST00000380679.1_Silent_p.R202R|DYX1C1_ENST00000457155.2_Silent_p.R202R|DYX1C1_ENST00000448430.2_Silent_p.R202R|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Silent_p.R202R	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	202					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAAATTTCTAGTAAGACtc	0.289000													11	31					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239174207	239174207	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239174207C>A	ENST00000254657.3	-	9	1271	c.992G>T	c.(991-993)aGa>aTa	p.R331I	PER2_ENST00000254658.3_Missense_Mutation_p.R331I|PER2_ENST00000355768.2_Missense_Mutation_p.R331I|PER2_ENST00000440245.1_Missense_Mutation_p.R331I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	331	PAS 2.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGTAAAAATTCTCTTTTCAGG	0.358000													19	41					2.27731e-05	2.49859e-05	1	1	0
USP9X	8239	broad.mit.edu	37	X	41057954	41057954	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41057954A>C	ENST00000324545.7	+	30	5187	c.4554A>C	c.(4552-4554)caA>caC	p.Q1518H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q1518H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1518					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCTCAAACAAATAGTAGATT	0.343000													22	26					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130279266	130279266	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130279266G>T	ENST00000358511.6	+	1	89	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D20Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	20	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGAACCAAGATTCCGGTAA	0.294000													16	21					1.99824e-07	2.29918e-07	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	373	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338000													66	33					4.49795e-14	5.82898e-14	1	1	0
PARP9	83666	broad.mit.edu	37	3	122255817	122255817	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122255817C>A	ENST00000462315.1	-	9	2162	c.1869G>T	c.(1867-1869)aaG>aaT	p.K623N	PARP9_ENST00000492382.1_Missense_Mutation_p.K203N|PARP9_ENST00000360356.2_Missense_Mutation_p.K658N|PARP9_ENST00000477522.2_Missense_Mutation_p.K623N|PARP9_ENST00000471785.1_Missense_Mutation_p.K623N	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	658					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAAACTGTTTCTTTTGATCTA	0.353000													39	69					1.93745e-38	2.79126e-38	1	1	0
UTP14A	10813	broad.mit.edu	37	X	129053155	129053155	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129053155G>T	ENST00000394422.3	+	7	570	c.542G>T	c.(541-543)aGa>aTa	p.R181I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.R127I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R13I|UTP14A_ENST00000425117.2_Missense_Mutation_p.R129I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	181					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTAAGGCAAGAACTCCCCTG	0.438000													42	76					3.61848e-18	4.89221e-18	1	1	0
ZNF396	252884	broad.mit.edu	37	18	32949295	32949295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32949295G>A	ENST00000306346.1	-	4	1023	c.892C>T	c.(892-894)Cga>Tga	p.R298*	ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R298*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	298					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGGGTTCGTCGATGCTGAATC	0.438000													4	38					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439940	75439940	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:75439940G>T	ENST00000526712.1	+	4	1283	c.510G>T	c.(508-510)aaG>aaT	p.K170N	MOGAT2_ENST00000198801.5_Missense_Mutation_p.K252N			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	252					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGTTGCAGAAGATCATGGGCA	0.522000													38	65					6.04917e-29	8.60473e-29	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133661613	133661613	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133661613C>T	ENST00000310926.4	-	11	1735		c.e11-1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TCAAATAGATCTTCAAGAGGA	0.517000													25	46					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39392476C>A	ENST00000320816.6	-	4	788	c.321G>T	c.(319-321)gaG>gaT	p.E107D	DAB2_ENST00000545653.1_Missense_Mutation_p.E107D|DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458000													10	16					9.70103e-10	1.17791e-09	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26343735	26343735	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26343735G>A	ENST00000335473.7	+	36	5939	c.5689G>A	c.(5689-5691)Gat>Aat	p.D1897N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1898N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1897	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGCGCATCGATGAGGACCA	0.552000													22	30					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160150975	160150975	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160150975C>T	ENST00000357388.3	+	23	4143	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	SMC4_ENST00000360111.2_Missense_Mutation_p.S1173F|RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.S1173F|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206F|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAATGTGTCCATTGTTGCA	0.343000													27	33					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164633	139164633	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164633G>A	ENST00000395297.1	-	13	2255	c.2085C>T	c.(2083-2085)gtC>gtT	p.V695V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	695										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)			CTGACCAGGCGACGGAGCTTG	0.552000										HNSCC(54;0.14)			24	41					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448762	121448762	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121448762T>C	ENST00000393667.3	-	3	309	c.199A>G	c.(199-201)Att>Gtt	p.I67V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.I67V|GOLGB1_ENST00000472829.1_5'UTR	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	67					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTCTAATAATATCTTTTAGC	0.383000													23	33					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78076220	78076220	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78076220C>A	ENST00000264914.4	-	8	2138	c.1602G>T	c.(1600-1602)taG>taT	p.*534Y		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	0					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CCCTGAAATCCTACATCCAAG	0.527000													8	78					1.06961e-07	1.24214e-07	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187702145	187702145	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187702145A>C	ENST00000295131.2	-	5	670	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	211					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGTTTTTGAATTCCTCCAAA	0.393000													25	39					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61004994	61004994	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61004994A>G	ENST00000373880.4	+	5	1038	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PHYHIPL_ENST00000373878.3_Silent_p.K232K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	258										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCGCAGAAAAACTTTTTAACC	0.413000													5	48					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60631070	60631070	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60631070A>C	ENST00000582809.1	+	10	930	c.227A>C	c.(226-228)aAt>aCt	p.N76T	TLK2_ENST00000542523.1_Missense_Mutation_p.N193T|TLK2_ENST00000326270.9_Missense_Mutation_p.N225T|TLK2_ENST00000343388.7_Missense_Mutation_p.N193T|TLK2_ENST00000346027.5_Missense_Mutation_p.N225T			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	225					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						AACAGTAAGAATTCTGACTTA	0.299000													3	25					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375981	113375981	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113375981T>C	ENST00000316407.4	-	7	4958	c.4548A>G	c.(4546-4548)caA>caG	p.Q1516Q	KIAA2018_ENST00000478658.1_Silent_p.Q1516Q|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1516	Gln-rich.				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						GAACTTCCTGTTGCAGAGTCC	0.483000													19	31					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228						integral to plasma membrane	N-formyl peptide receptor activity	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597000													25	50					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513452	109513452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109513452G>A	ENST00000409271.1	-	12	1797	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	EDAR_ENST00000376651.1_Missense_Mutation_p.R452W|EDAR_ENST00000258443.2_Missense_Mutation_p.R420W			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	420					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCATCCAGCCGCTCAATCTGC	0.572000													8	14					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449541	91449541	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91449541A>C	ENST00000266719.3	-	2	765	c.518T>G	c.(517-519)cTa>cGa	p.L173R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	173					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTGTTCTGTAGGTCAAGAAG	0.403000													9	111					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76888737	76888737	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76888737G>A	ENST00000373344.5	-	19	5306	c.5092C>T	c.(5092-5094)Cgg>Tgg	p.R1698W	ATRX_ENST00000395603.3_Missense_Mutation_p.R1660W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1698	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAAGTTTCCGACTCTTCACA	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						33	206					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574280	136574280	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136574280C>A	ENST00000446465.2	+	2	1606	c.978C>A	c.(976-978)gtC>gtA	p.V326V	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V326V	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	326	DUF6 2.					Golgi apparatus|integral to membrane											CTATATGTGTCTGTTCTACTG	0.403000													16	196					4.14922e-12	5.21015e-12	1	1	0
ZNF20	7568	broad.mit.edu	37	19	12243874	12243874	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243874A>C	ENST00000334213.5	-	4	1351	c.1127T>G	c.(1126-1128)tTt>tGt	p.F376C	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						AGCACATCTAAAGCCTTTCCC	0.418000													11	48					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28602426	28602426	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28602426C>A	ENST00000380982.4	-	16	2024		c.e16-1		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCTTTTTCTGTCAAAGAA	0.388000			"""Mis, O"""		"""AML, ALL"""								9	15					0.0477658	0.0484551	1	1	0
CHST9	83539	broad.mit.edu	37	18	24496352	24496352	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:24496352G>A	ENST00000284224.8	-	6	1480	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.S401S|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	401					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCTTTCATCGGAAGAGTGCC	0.368000													34	77					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865861	139865861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139865861C>T	ENST00000370532.2	-	1	862	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	224								p.R224H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAAATCTACGTCTTCCACC	0.448000													75	110					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100653892	100653892	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100653892T>G	ENST00000218516.3	-	5	703	c.682A>C	c.(682-684)Aat>Cat	p.N228H	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	228					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TCAGCAAAATTTCGCCAGTGA	0.398000													55	74					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78353468	78353468	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78353468A>C	ENST00000582970.1	+	55	13737	c.13594A>C	c.(13594-13596)Att>Ctt	p.I4532L	RNF213_ENST00000336301.6_Missense_Mutation_p.I2605L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I4581L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCATGCGCCGATTGGAGGCAT	0.507000													21	47					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111693940	111693940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111693940C>T	ENST00000435970.1	-	15	6200	c.5384G>A	c.(5383-5385)cGa>cAa	p.R1795Q	REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1873					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.R1795Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGCAGTTCGAGGGGTGAA	0.413000								DNA polymerases (catalytic subunits)					55	131					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:68687299G>T	ENST00000361320.4	+	2	1203	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453000													33	63					3.11337e-16	4.1367e-16	1	1	0
ZNF728	388523	broad.mit.edu	37	19	23159480	23159480	+	Missense_Mutation	SNP	C	C	A	rs144353074	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23159480C>A	ENST00000594710.1	-	4	804	c.659G>T	c.(658-660)aGa>aTa	p.R220I		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGTATGAATTCTCTTATAAGT	0.373000													16	24					3.45872e-05	3.78815e-05	1	1	0
RBM43	375287	broad.mit.edu	37	2	152107614	152107614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107614C>A	ENST00000331426.5	-	4	1031	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	294							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATAAATGTCTCTTTTCTAAGC	0.348000													14	23					1.05317e-09	1.27574e-09	1	1	0
NRG3	10718	broad.mit.edu	37	10	84745314	84745314	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:84745314T>A	ENST00000372142.2	+	11	1727	c.1453T>A	c.(1453-1455)Ttt>Att	p.F485I	NRG3_ENST00000556918.1_Missense_Mutation_p.F512I|NRG3_ENST00000372141.2_Missense_Mutation_p.F682I|NRG3_ENST00000404576.2_Missense_Mutation_p.F486I|NRG3_ENST00000545131.1_Missense_Mutation_p.F332I|NRG3_ENST00000537893.1_Missense_Mutation_p.F332I|NRG3_ENST00000404547.1_Missense_Mutation_p.F706I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	706					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGAGGCGCAATTTGTCTTAAG	0.468000													32	51					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52115650	52115650	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52115650C>T	ENST00000354534.5	+	12	2134	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SCN8A_ENST00000550891.1_Silent_p.I652I|SCN8A_ENST00000545061.1_Silent_p.I652I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	652					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTCCCTCATCGGCGGCCCCG	0.622000													27	34					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113079393	113079393	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113079393A>C	ENST00000409871.1	+	8	1438	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	346							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACAACTGTAAATTTTCCCAT	0.308000													5	7					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622306	175622306	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175622306A>G	ENST00000348749.5	-	4	409	c.332T>C	c.(331-333)gTt>gCt	p.V111A	CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V136A|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	136					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GTTATAGAGAACAAGGTCTGG	0.488000													8	19					0	0	1	0	0
MTHFS	10588	broad.mit.edu	37	15	80137599	80137599	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137599C>T	ENST00000258874.3	-	3	625	c.565G>A	c.(565-567)Gac>Aac	p.D189N	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	189					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	p.D189N(1)		endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ACCTTCATGTCGTTTTCATTC	0.433000													13	78					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936421	152936421	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152936421C>T	ENST00000393831.2	-	9	1261	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	PNCK_ENST00000340888.3_Missense_Mutation_p.R253Q|PNCK_ENST00000447676.2_Missense_Mutation_p.R336Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R270Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R276Q|PNCK_ENST00000370150.1_Missense_Mutation_p.R253Q	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	253						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGTCTCGCTCCAGAAG	0.642000													40	73					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646632	80646632	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80646632T>C	ENST00000466387.1	+	13	1920	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	CTNNA2_ENST00000402739.4_Missense_Mutation_p.L399S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L433S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L78S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	399					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATGTTCCTTTGCTAGTTCTC	0.393000													24	51					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289317	160289317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160289317T>G	ENST00000392783.2	-	9	2346	c.1851A>C	c.(1849-1851)gaA>gaC	p.E617D	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E615D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E617D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E615D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	617	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						cctcatcttcttcttcatcat	0.333000													9	18					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761694	92761694	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92761694G>T	ENST00000318238.4	-	5	4807	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1197L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1197L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1197										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCACCCAAGAAACAAGCTG	0.378000													42	68					1.15505e-17	1.55342e-17	1	1	0
C20orf196	149840	broad.mit.edu	37	20	5843907	5843907	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5843907A>G	ENST00000303142.6	+	3	503	c.416A>G	c.(415-417)aAg>aGg	p.K139R		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	139										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GAGAGCCAAAAGTATGCCCTC	0.537000													22	35					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187416	62187416	+	Missense_Mutation	SNP	G	G	A	rs143315774	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187416G>A	ENST00000370098.3	+	2	492	c.400G>A	c.(400-402)Gac>Aac	p.D134N	C20orf195_ENST00000370097.1_Missense_Mutation_p.D134N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	134										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAACAGCTCGACCATGGCCG	0.667000													17	36					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446978	197446978	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197446978T>C	ENST00000367400.3	+	12	4325	c.4190T>C	c.(4189-4191)aTg>aCg	p.M1397T	CRB1_ENST00000367399.2_Missense_Mutation_p.M1285T|CRB1_ENST00000535699.1_Missense_Mutation_p.M1373T|CRB1_ENST00000538660.1_Missense_Mutation_p.M861T|CRB1_ENST00000544212.1_Missense_Mutation_p.M878T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1397					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAACTTGATGCCACCCCCT	0.522000													26	41					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73717235	73717235	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73717235A>G	ENST00000314032.4	-	3	868	c.316T>C	c.(316-318)Tac>Cac	p.Y106H	UCP3_ENST00000426995.2_Missense_Mutation_p.Y106H|UCP3_ENST00000348534.4_Missense_Mutation_p.Y106H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	106					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTGGGGGTGTACACCTGCTTG	0.612000													6	31					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124104541	124104541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124104541G>T	ENST00000238146.4	+	14	1707	c.1657G>T	c.(1657-1659)Gaa>Taa	p.E553*	DDX55_ENST00000538744.1_Nonsense_Mutation_p.E522*|DDX55_ENST00000421670.3_Nonsense_Mutation_p.E160*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	553	Lys-rich.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GGACATGGAAGAACTTCTTAA	0.343000													25	40					1.64293e-13	2.10822e-13	1	1	0
SEPT8	23176	broad.mit.edu	37	5	132099413	132099413	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132099413C>A	ENST00000296873.7	-	4	802	c.519G>T	c.(517-519)aaG>aaT	p.K173N	SEPT8_ENST00000378701.1_Missense_Mutation_p.K171N|SEPT8_ENST00000458488.2_Missense_Mutation_p.K173N|SEPT8_ENST00000378721.4_Missense_Mutation_p.K171N|SEPT8_ENST00000378706.1_Missense_Mutation_p.K173N|SEPT8_ENST00000378719.2_Missense_Mutation_p.K173N|SEPT8_ENST00000448933.1_Missense_Mutation_p.K113N|SEPT8_ENST00000378699.2_Missense_Mutation_p.K113N	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	173					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTAGTTTCTTCATGGTCA	0.537000													95	168					7.0627e-44	1.02276e-43	1	1	0
STAG3	10734	broad.mit.edu	37	7	99798886	99798886	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99798886G>A	ENST00000426455.1	+	21	2539		c.e21-1		GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Splice_Site|STAG3_ENST00000440830.1_Splice_Site|STAG3_ENST00000394018.2_Splice_Site			Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCCAAAGCACTCATGAC	0.532000													28	78					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1012473	1012473	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1012473A>C	ENST00000356663.3	-	4	828	c.707T>G	c.(706-708)gTg>gGg	p.V236G	TMEM259_ENST00000333175.5_Missense_Mutation_p.V236G	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		CAGGGTGACCACCATGACGGG	0.677000													4	10					0	0	1	0	0
RP11-14N7.2	0	broad.mit.edu	37	1	148932813	148932813	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:148932813C>T	ENST00000539543.1	+	0	69					NR_027355.1																						CAAGCTAGCCCGCCAGGCCTC	0.602000													18	185					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811355	73811355	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73811355G>A	ENST00000332687.6	-	4	2013	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	RLIM_ENST00000349225.2_Missense_Mutation_p.R599C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	599					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAACCAGCGATCGATGCAG	0.408000													37	47					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215802207	215802207	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215802207G>T	ENST00000366943.2	-	72	15926	c.15540C>A	c.(15538-15540)gtC>gtA	p.V5180V	USH2A_ENST00000307340.3_Silent_p.V5156V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5156					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCCATCAAGACTTTCTTGT	0.502000										HNSCC(13;0.011)			33	51					6.90743e-12	8.65044e-12	1	1	0
TP73	7161	broad.mit.edu	37	1	3624317	3624317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3624317T>G	ENST00000378295.4	+	4	546	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	TP73_ENST00000603362.1_Missense_Mutation_p.F131V|TP73_ENST00000346387.4_Missense_Mutation_p.F131V|TP73_ENST00000378290.4_Missense_Mutation_p.F60V|TP73_ENST00000604479.1_Missense_Mutation_p.F131V|TP73_ENST00000604074.1_Missense_Mutation_p.F131V|TP73_ENST00000378280.1_Missense_Mutation_p.F82V|TP73_ENST00000378285.1_Missense_Mutation_p.F82V|TP73_ENST00000378288.4_Missense_Mutation_p.F82V|TP73_ENST00000357733.3_Missense_Mutation_p.F131V|TP73_ENST00000354437.4_Missense_Mutation_p.F131V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	131	DNA-binding (Potential).				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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGAGGTCACTTTCCAGCAGTC	0.662000													6	71					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150278113	150278113	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150278113A>G	ENST00000427179.1	-	4	245	c.19T>C	c.(19-21)Tta>Cta	p.L7L	ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000446148.2_Silent_p.L23L|ZNF300_ENST00000394226.2_Silent_p.L7L|ZNF300_ENST00000274599.5_Silent_p.L7L			Q96RE9	ZN300_HUMAN	zinc finger protein 300	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGATACTAACCCCTGTAAT	0.418000													17	91					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1453536	1453536	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1453536C>T	ENST00000535453.1	+	3	2052	c.339C>T	c.(337-339)tcC>tcT	p.S113S	APC2_ENST00000238483.4_Silent_p.S113S|APC2_ENST00000233607.2_Silent_p.S113S			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	113					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACACGGCTCCGGGCCCTCCA	0.692000													13	36					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149491951	149491951	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:149491951T>G	ENST00000378016.2	+	0	6152							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGATCAGATTCCCTTTGGCC	0.612000													28	45					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29959904	29959904	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29959904C>T	ENST00000378993.1	+	9	1867	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	IL1RAPL1_ENST00000302196.4_Silent_p.L398L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	398					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGAAGAGCTCGATGGAGGTA	0.358000													18	49					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117027726	117027726	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117027726C>A	ENST00000356083.3	+	32	3755	c.3364C>A	c.(3364-3366)Cca>Aca	p.P1122T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1122	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCAGGCCCCCCAGGCACCAA	0.612000													4	35					0.184627	0.185817	1	1	0
PLK4	0	broad.mit.edu	37	4	128814548	128814548	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128814548A>C	ENST00000270861.5	+	11	2571	c.2297A>C	c.(2296-2298)aAa>aCa	p.K766T	PLK4_ENST00000507249.1_Missense_Mutation_p.K705T|PLK4_ENST00000513090.1_Missense_Mutation_p.K734T|PLK4_ENST00000515069.1_Missense_Mutation_p.K688T|PLK4_ENST00000514379.1_Missense_Mutation_p.K725T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	766					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGGAGATAAAAATGTATATG	0.318000													14	41					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166902356	166902356	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:166902356C>T	ENST00000510118.1	-	12	1287	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R299Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R291Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R137Q			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	291	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAGAGAGCTCGCAGCAAACT	0.562000													7	17					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100518526	100518526	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100518526C>A	ENST00000376355.3	+	5	596	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	CLYBL_ENST00000444838.2_Missense_Mutation_p.L189I|CLYBL_ENST00000339105.4_Missense_Mutation_p.L223I|CLYBL_ENST00000376360.1_Missense_Mutation_p.L223I|CLYBL_ENST00000376354.1_Missense_Mutation_p.L189I	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	223					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGGATATTCTCTACGCCCG	0.428000													38	64					1.02591e-13	1.31916e-13	1	1	0
ADAL	161823	broad.mit.edu	37	15	43628012	43628012	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43628012G>T	ENST00000422466.2	+	5	756	c.182G>T	c.(181-183)aGa>aTa	p.R61I	ADAL_ENST00000428046.3_Missense_Mutation_p.R61I|ADAL_ENST00000562188.1_Missense_Mutation_p.R61I|ADAL_ENST00000389651.4_Missense_Mutation_p.R61I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	61					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GGAAAGAAAAGAACTTTGGAA	0.363000													32	60					6.53348e-20	8.92126e-20	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110420308	110420308	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110420308T>C	ENST00000378402.5	+	18	1948	c.1844T>C	c.(1843-1845)gTt>gCt	p.V615A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					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)			TATGAAGTAGTTGAAGGGAAT	0.343000										HNSCC(38;0.096)			13	27					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642253	210642253	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210642253T>G	ENST00000439458.1	+	4	650	c.570T>G	c.(568-570)ttT>ttG	p.F190L	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.F190L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	190						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCTTCGTGTTTCTGTTTGCTC	0.488000													43	71					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820774	24820774	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24820774C>T	ENST00000376451.2	+	10	2407	c.2147C>T	c.(2146-2148)tCg>tTg	p.S716L	KIAA1217_ENST00000307544.6_Missense_Mutation_p.S716L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1033L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S953L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S997L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S998L			Q5T5P2	SKT_HUMAN	KIAA1217	1033					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCCAAATTCGGAACAGGAC	0.493000													14	19					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692557	153692557	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153692557G>A	ENST00000369682.3	+	8	1904	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	577					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.E577K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCGCCTTCGAGGCGGCGGC	0.697000													14	22					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	37					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52865252	52865252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52865252C>A	ENST00000252250.6	-	4	912	c.865G>T	c.(865-867)Gac>Tac	p.D289Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	289	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGAGAGTGTCTGCCTTGGCT	0.493000													11	38					1.08611e-07	1.25818e-07	1	1	0
UBXN11	91544	broad.mit.edu	37	1	26612003	26612003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26612003G>A	ENST00000314675.7	-	6	523	c.444C>T	c.(442-444)ttC>ttT	p.F148F	UBXN11_ENST00000374217.2_Silent_p.F235F|UBXN11_ENST00000374221.3_Silent_p.F268F|UBXN11_ENST00000374222.1_Silent_p.F268F|UBXN11_ENST00000535108.1_Silent_p.F110F|UBXN11_ENST00000436301.2_Silent_p.F193F|UBXN11_ENST00000374223.1_Silent_p.F25F|UBXN11_ENST00000357089.4_Silent_p.F235F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	268						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGAGGGAAAGAAGCCATCCA	0.587000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77645854	77645854	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:77645854A>G	ENST00000461745.1	+	19	3707	c.2807A>G	c.(2806-2808)aAt>aGt	p.N936S	ROBO2_ENST00000332191.8_Missense_Mutation_p.N936S|ROBO2_ENST00000487694.3_Missense_Mutation_p.N952S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	936					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTGCCAGTAAATAATAGCAAC	0.418000													38	59					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310254	178310254	+	Missense_Mutation	SNP	G	G	T	rs147300334	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310254G>T	ENST00000322434.3	+	5	1027	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACAGGAGAGAAACCCTATA	0.353000													29	46					1.38267e-23	1.93402e-23	1	1	0
TTN	7273	broad.mit.edu	37	2	179565931	179565931	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179565931C>T	ENST00000589042.1	-	111	30823		c.e111-1		TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			GGAGGGATTTCTGAAGAAAAT	0.363000													30	61					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156593022	156593022	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156593022T>G	ENST00000302938.4	-	1	253	c.158A>C	c.(157-159)cAg>cCg	p.Q53P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	53						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGTTTATCTGAATAAAATT	0.478000													7	78					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105527584	105527584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105527584G>A	ENST00000332180.5	+	14	1323	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	412					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGAGCTCATGGATGATGAAAA	0.333000													20	48					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16948356	16948356	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16948356G>A	ENST00000377833.4	-	50	7823	c.7758C>T	c.(7756-7758)ggC>ggT	p.G2586G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2586	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCGTCATAGCCAGGAGAAG	0.418000													22	45					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63894714	63894714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63894714G>T	ENST00000371108.4	+	14	1548	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E417*|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	415					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTGAAGAAGAACTGCAGTT	0.313000													8	8					1.06961e-07	1.24214e-07	1	1	0
DPP6	1804	broad.mit.edu	37	7	154593165	154593165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154593165C>T	ENST00000404039.1	+	13	1795	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	DPP6_ENST00000427557.1_Missense_Mutation_p.S360L|DPP6_ENST00000377770.3_Missense_Mutation_p.S467L|DPP6_ENST00000332007.3_Missense_Mutation_p.S405L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	467					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACGGTGTCCTCGTCCCAGGTA	0.537000													5	7					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79980449	79980449	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79980449G>A	ENST00000373275.4	-	15	1720	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	502										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGTAATTCCGAATTTTGGTC	0.368000													13	29					0	0	1	0	0
CAV2	858	broad.mit.edu	37	7	116140470	116140470	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116140470C>A	ENST00000222693.4	+	2	699	c.307C>A	c.(307-309)Ctc>Atc	p.L103I	CAV2_ENST00000393480.2_Missense_Mutation_p.L103I|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	103					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	p.L103F(1)		large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TGCGGGAATTCTCTTTGCCAC	0.552000													26	62					7.76418e-22	1.07612e-21	1	1	0
CACNG3	10368	broad.mit.edu	37	16	24358084	24358084	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24358084G>A	ENST00000005284.3	+	2	1443	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	81					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			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)		CAAGAAAATCGATCACTTCCC	0.582000													29	39					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597112	136597112	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597112C>A	ENST00000531224.1	-	5	1803	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N	BCLAF1_ENST00000353331.4_Missense_Mutation_p.K515N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K344N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K515N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K517N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K515N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	517					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CATCCAGATTCTTGTGTAGAG	0.413000													12	153					1.3612e-06	1.53357e-06	1	1	0
GMPS	8833	broad.mit.edu	37	3	155611439	155611439	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155611439A>C	ENST00000496455.1	+	2	495	c.160A>C	c.(160-162)Att>Ctt	p.I54L	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	54	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCAGTCTGAAATTTTCCCCTT	0.443000			T	MLL	AML								13	20					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144381598	144381598	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:144381598G>T	ENST00000262995.4	+	9	2278	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	GAB1_ENST00000505913.1_Missense_Mutation_p.E484D|GAB1_ENST00000262994.4_Missense_Mutation_p.E587D	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	587					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACAGTGAAGAGAATTATGTTC	0.438000													25	136					7.07758e-08	8.2413e-08	1	1	0
NONO	4841	broad.mit.edu	37	X	70514336	70514336	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70514336A>C	ENST00000535149.1	+	3	984	c.341A>C	c.(340-342)aAa>aCa	p.K114T	NONO_ENST00000373841.1_Missense_Mutation_p.K203T|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.K203T|NONO_ENST00000373856.3_Missense_Mutation_p.K203T	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	203	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCTGCTCGGAAAGCTCTGGAC	0.507000			T	TFE3	papillary renal cancer								7	31					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152554096A>G	ENST00000397345.3	-	14	1421	c.1219T>C	c.(1219-1221)Ttc>Ctc	p.F407L	NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000172853.10_Missense_Mutation_p.F407L|NEB_ENST00000427231.2_Missense_Mutation_p.F407L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	407					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGAGCTTGAATTTGGGGGTC	0.328000													23	32					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635937	156635937	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156635937G>A	ENST00000422843.3	+	2	328	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	59	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R59Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCTCTCCCGAATCAAATGT	0.458000			T	SYK	peripheral T-cell lymphoma								7	18					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126154643	126154643	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:126154643A>G	ENST00000261366.5	+	6	1330	c.969A>G	c.(967-969)gaA>gaG	p.E323E	LMNB1_ENST00000395354.1_Silent_p.E323E|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	323	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGATTCAAGAATTAGAGGACT	0.398000													43	61					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454447	53454447	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454447C>A	ENST00000357666.4	-	5	881	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R194I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAGAAATTCTTTGGGATTC	0.373000													37	76					1.57351e-24	2.20921e-24	1	1	0
RANBP6	26953	broad.mit.edu	37	9	6015322	6015322	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6015322C>T	ENST00000259569.5	-	1	296	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	96					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTGACATCTCTCTGAACA	0.438000													27	54					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819213	45819213	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45819213G>T	ENST00000397928.1	+	14	2542	c.2097G>T	c.(2095-2097)gaG>gaT	p.E699D	TRPM2_ENST00000397932.2_Missense_Mutation_p.E699D|TRPM2_ENST00000300482.5_Missense_Mutation_p.E699D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.E679D	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	699						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						AGGACGAAGAGAGAGCCCAGA	0.627000													28	75					8.58068e-18	1.15595e-17	1	1	0
ODC1	4953	broad.mit.edu	37	2	10582167	10582167	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10582167A>C	ENST00000234111.4	-	9	1394	c.884T>G	c.(883-885)aTt>aGt	p.I295S	ODC1_ENST00000405333.1_Missense_Mutation_p.I295S	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	295					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CTTTAATACAATTTTCTTGGC	0.398000													9	61					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503679	76503679	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76503679G>A	ENST00000389840.5	-	28	4557	c.4433C>T	c.(4432-4434)gCg>gTg	p.A1478V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A1479V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GACGGAGTCCGCCGTGGACAG	0.602000													22	27					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888160	34888160	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:34888160G>A	ENST00000360581.1	+	8	1038	c.910G>A	c.(910-912)Gac>Aac	p.D304N	NPSR1_ENST00000381539.3_Missense_Mutation_p.D304N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D304N|NPSR1_ENST00000531252.1_Missense_Mutation_p.D293N|NPSR1_ENST00000381542.1_Missense_Mutation_p.D238N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	304						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTCCTTCCAGACACCCAGGA	0.493000													84	150					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167689785	167689785	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689785T>G	ENST00000519204.1	+	28	8050	c.7932T>G	c.(7930-7932)ttT>ttG	p.F2644L	TENM2_ENST00000518659.1_Missense_Mutation_p.F2765L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2764L|TENM2_ENST00000403607.2_Missense_Mutation_p.F2589L|TENM2_ENST00000520394.1_Missense_Mutation_p.F2526L					teneurin transmembrane protein 2																		ACATCCAGTTTTTAAGACAGA	0.488000													9	14					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20101616	20101616	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20101616G>A	ENST00000396085.1	+	25	5547	c.5186G>A	c.(5185-5187)gGc>gAc	p.G1729D	NAV2_ENST00000533917.1_Missense_Mutation_p.G793D|NAV2_ENST00000360655.4_Missense_Mutation_p.G1665D|NAV2_ENST00000527559.2_Missense_Mutation_p.G1714D|NAV2_ENST00000396087.3_Missense_Mutation_p.G1785D|NAV2_ENST00000349880.4_Missense_Mutation_p.G1729D|NAV2_ENST00000311043.8_Missense_Mutation_p.G793D|NAV2_ENST00000540292.1_Missense_Mutation_p.G1716D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1785						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCAGGAAACGGCACTGCCCAG	0.577000													15	33					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766288	88766288	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766288T>C	ENST00000497649.2	+	6	574	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L	MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.F90L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.F121L|MEPE_ENST00000424957.3_Missense_Mutation_p.F90L			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	90					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCAAAATTATTTCACAAATAG	0.338000													23	42					0	0	1	0	0
ARMC4P1	0	broad.mit.edu	37	10	27552106	27552106	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27552106A>C	ENST00000576034.1	+	0	362																											GTGGAACACAAGTTTGGCGCC	0.353000													5	22					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112550	44112550	+	Silent	SNP	G	G	A	rs141606024	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112550G>A	ENST00000361807.3	+	5	1253	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	ZNF485_ENST00000374435.3_Silent_p.P353P|ZNF485_ENST00000374437.2_Silent_p.P262P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAATAAACCGTATCAGTGTC	0.418000													22	50					0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37240057	37240057	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37240057G>A	ENST00000591344.1	-	5	2043	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTCGTAAACGAAGTCTAAAG	0.408000													10	14					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111423	186111423	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186111423T>G	ENST00000458385.2	-	2	1047	c.928A>C	c.(928-930)Aaa>Caa	p.K310Q	KIAA1430_ENST00000296775.6_Missense_Mutation_p.K310Q|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K310Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	310										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TCTTTCCCTTTTTTGGCTGCT	0.333000													12	19					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164793787	164793787	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164793787T>G	ENST00000264382.3	-	2	76	c.14A>C	c.(13-15)aAa>aCa	p.K5T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	5					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)	TCCACTAAATTTCTTTCTTGC	0.269000										HNSCC(35;0.089)			23	23					0	0	1	0	0
BDH2	56898	broad.mit.edu	37	4	104003288	104003288	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104003288C>T	ENST00000296424.4	-	9	754	c.634G>A	c.(634-636)Gca>Aca	p.A212T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	212					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TCTGCAGTTGCGAATCTTCCC	0.463000													6	14					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50191483	50191483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50191483C>T	ENST00000216267.8	-	5	2554	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	BRD1_ENST00000457780.2_Missense_Mutation_p.A690T|BRD1_ENST00000404760.1_Missense_Mutation_p.A690T|BRD1_ENST00000342989.5_Missense_Mutation_p.A285T|BRD1_ENST00000404034.1_Missense_Mutation_p.A690T|BRD1_ENST00000542442.1_Missense_Mutation_p.A378T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	690					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCCGCGGTGCCGCAGCAGGC	0.647000													17	13					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	68061960	68061960	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68061960T>C	ENST00000178640.5	+	20	1782	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	MAP2K5_ENST00000340972.4_Silent_p.V195V|MAP2K5_ENST00000354498.5_Silent_p.V349V|MAP2K5_ENST00000395476.2_Silent_p.V375V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	385	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCCTTCCAGTTGGAGAGTTCT	0.453000													4	28					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108104226	108104226	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108104226T>G	ENST00000412830.3	+	14	1503	c.1335T>G	c.(1333-1335)atT>atG	p.I445M	PWP1_ENST00000541166.1_Missense_Mutation_p.I383M	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	445					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGCCATTTATTTATGCCTTTG	0.448000													5	62					0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78837280	78837280	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78837280A>C	ENST00000044462.7	+	6	507	c.357A>C	c.(355-357)caA>caC	p.Q119H	PSMA4_ENST00000560217.1_Missense_Mutation_p.Q88H|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558281.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558094.1_Missense_Mutation_p.Q31H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.Q48H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	119					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATATCAAACAAGCTTATACAC	0.313000													11	18					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70011999	70011999	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70011999C>A	ENST00000325845.7	-	25	2596	c.527G>T	c.(526-528)aGa>aTa	p.R176I	RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R208I|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						AAGAGGCTTTCTTGCAGAGGG	0.463000													10	222					1.76689e-08	2.08373e-08	1	1	0
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115335708G>A	ENST00000537906.1	+	5	404	c.242G>A	c.(241-243)gGa>gAa	p.G81E	HABP2_ENST00000351270.3_Silent_p.G92G|HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	0	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCGTCCATGGGAGCACCTTCA	0.527000													58	117					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304275	176304275	+	Silent	SNP	C	C	T	rs150349541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176304275C>T	ENST00000329542.4	+	9	1735	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	UNC5A_ENST00000261961.3_Silent_p.D447D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	487	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCGGAAGACGTGAGGTGTG	0.652000													29	36					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27282795	27282795	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27282795G>A	ENST00000496902.4	+	1	632	c.146G>A	c.(145-147)aGc>aAc	p.S49N	EVX1_ENST00000222761.3_Missense_Mutation_p.S49N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGTTGCCTGAGCCCTCGGGCC	0.726000													6	10					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119070327	119070327	+	Silent	SNP	C	C	T	rs10577974		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119070327C>T	ENST00000371410.3	-	4	772	c.606G>A	c.(604-606)tcG>tcA	p.S202S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	202	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTTTCTTTTCGATGATTTTT	0.348000													10	38					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749334	51749334	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51749334C>T	ENST00000395052.3	+	4	1779	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	515					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCAGCCGGGCGAAGTCTGCT	0.632000													15	20					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548868	116548868	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116548868C>A	ENST00000410059.1	+	19	2116	c.1636C>A	c.(1636-1638)Cct>Act	p.P546T	DPP10_ENST00000310323.8_Missense_Mutation_p.P539T|DPP10_ENST00000393147.2_Missense_Mutation_p.P550T|DPP10_ENST00000409163.1_Missense_Mutation_p.P496T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	546					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAAGAACTTCCTTTACAGTT	0.313000													11	31					3.27435e-08	3.83577e-08	1	1	0
THSD1	55901	broad.mit.edu	37	13	52971819	52971819	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52971819G>A	ENST00000349258.4	-	3	1113	c.569C>T	c.(568-570)aCc>aTc	p.T190I	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T190I	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	190						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCTTTTGCTGGTTCTTATTTC	0.517000													15	38					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528886	157528886	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:157528886C>T	ENST00000346085.5	+	20	6612	c.6611C>T	c.(6610-6612)gCc>gTc	p.A2204V	ARID1B_ENST00000275248.4_Missense_Mutation_p.A2186V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2244V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A2191V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2191					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTTTGCTAGCCATGGCCAGA	0.572000													43	80					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134773	119134773	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119134773T>C	ENST00000264245.4	+	12	4529	c.3997T>C	c.(3997-3999)Tct>Cct	p.S1333P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1333					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATCTGGGGGTTCTAAGCCTTT	0.517000													35	90					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6069709	6069709	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6069709G>T	ENST00000217289.4	-	10	1955	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	FERMT1_ENST00000536936.1_Missense_Mutation_p.F132L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	389	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATATTGTTTGAAAGCTTTTG	0.353000													5	48					5.9392e-07	6.75488e-07	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42742690	42742690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742690C>A	ENST00000263805.4	-	2	2037	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTTCAGATTCTTCTACATTT	0.393000													29	74					1.5548e-18	2.10666e-18	1	1	0
SLC36A2	153201	broad.mit.edu	37	5	150696383	150696383	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150696383G>A	ENST00000335244.4	-	10	1576	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	SLC36A2_ENST00000450886.1_Missense_Mutation_p.R207W	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	483					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGCTCACCGAACAAAAGTG	0.483000													21	57					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71020933	71020933	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71020933T>G	ENST00000354624.5	+	16	2388	c.2255T>G	c.(2254-2256)aTt>aGt	p.I752S	HKDC1_ENST00000395086.2_Missense_Mutation_p.I752S	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	752					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGGGGAGATTGTGCGGCAG	0.527000													21	45					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44176933	44176933	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:44176933C>T	ENST00000360029.3	-	2	1579	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	432						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						CACTTAGCTTCTCACAGACTT	0.413000										HNSCC(17;0.042)			71	125					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45362452	45362452	+	Silent	SNP	C	C	T	rs148470005	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45362452C>T	ENST00000359271.2	+	5	1855	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	535						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACAGCCGCATCGAGATCTCTG	0.592000													30	45					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128757724	128757724	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128757724T>G	ENST00000436022.2	+	7	1641	c.330T>G	c.(328-330)gcT>gcG	p.A110A	EFCC1_ENST00000480450.1_Silent_p.A547A	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		CGCTGGACGCTTTCAGGGACC	0.542000													12	111					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49089871	49089871	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49089871T>G	ENST00000261900.3	-	7	839	c.617A>C	c.(616-618)aAg>aCg	p.K206T		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	206					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTGGACCACTTGCAAGCCAG	0.502000													17	42					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700079	136700079	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:136700079C>T	ENST00000445907.2	+	3	995	c.467C>T	c.(466-468)gCt>gTt	p.A156V	CHRM2_ENST00000401861.1_Missense_Mutation_p.A156V|CHRM2_ENST00000397608.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A156V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A156V|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	156					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATCCTCTGGGCTCCAGCCATT	0.498000													6	97					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110134819	110134819	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:110134819T>C	ENST00000343115.4	-	5	652	c.333A>G	c.(331-333)ttA>ttG	p.L111L	RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L79L|RDX_ENST00000405097.1_Silent_p.L111L|RDX_ENST00000528498.1_Silent_p.L111L|RDX_ENST00000544551.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	111	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTCATCATTTAAGATGGCTT	0.373000													22	25					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113316973	113316973	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113316973C>A	ENST00000297405.5	-	52	8487	c.8243G>T	c.(8242-8244)aGa>aTa	p.R2748I	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708I|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2748	Sushi 16.					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						TCTTTCATTTCTCCAACTCCA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	25					1.01871e-10	1.25646e-10	1	1	0
STK31	56164	broad.mit.edu	37	7	23871984	23871984	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23871984A>C	ENST00000354639.3	+	24	3454	c.2990A>C	c.(2989-2991)tAa>tCa	p.*997S	STK31_ENST00000428484.1_Nonstop_Mutation_p.*997S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonstop_Mutation_p.*997S|STK31_ENST00000355870.3_Nonstop_Mutation_p.*1020S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	0	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGATTGTTAAATTATTATT	0.318000													13	30					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10515153	10515153	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:10515153C>T	ENST00000226951.6	-	16	1080	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CLNK_ENST00000515667.1_Missense_Mutation_p.E19K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	281					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGTATATTTTCGTGAGGGCTG	0.473000													4	12					0	0	1	0	0
MIR518C	0	broad.mit.edu	37	19	54211994	54211994	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54211994A>G	ENST00000384822.1	+	0	6					NR_030199.1																						CTGGAGCGAGAAGATCTCATG	0.408000													6	72					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882757	42882757	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42882757C>A	ENST00000426548.1	-	3	698	c.429G>T	c.(427-429)gaG>gaT	p.E143D	GJC1_ENST00000592524.1_Missense_Mutation_p.E143D|GJC1_ENST00000590758.1_Missense_Mutation_p.E143D|GJC1_ENST00000330514.4_Missense_Mutation_p.E143D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	143					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTAACTCCATCTCTGGATACA	0.498000													10	137					0.000442599	0.00046913	1	1	0
MPG	4350	broad.mit.edu	37	16	129447	129447	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:129447G>T	ENST00000219431.4	+	3	294	c.63G>T	c.(61-63)aaG>aaT	p.K21N	MPG_ENST00000397817.1_Missense_Mutation_p.K4N|MPG_ENST00000475280.1_3'UTR	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	21					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGGGGCAAAAGAAGCAGCGAC	0.562000								Base excision repair (BER), DNA glycosylases					20	57					1.2644e-06	1.4261e-06	1	1	0
GABRB2	0	broad.mit.edu	37	5	160721219	160721219	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160721219G>A	ENST00000274547.2	-	11	1625	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	GABRB2_ENST00000517547.1_Missense_Mutation_p.R272C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432C|GABRB2_ENST00000393959.1_Missense_Mutation_p.R470C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R369C	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	470					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R432C(2)|p.R470C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGGAGGCGCGTCTCCTCAGG	0.507000													27	52					0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152107545	152107545	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107545T>G	ENST00000331426.5	-	4	1100	c.949A>C	c.(949-951)Agt>Cgt	p.S317R		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	317							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TATCTCGAACTTAATTGTTCA	0.343000													13	29					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67335823	67335823	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67335823T>C	ENST00000304372.5	-	5	701	c.646A>G	c.(646-648)Aat>Gat	p.N216D	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	216						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGAAGAAAATTCACTTGAAAA	0.403000													26	76					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815615	23815615	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:23815615T>C	ENST00000264867.2	-	8	1610	c.1491A>G	c.(1489-1491)ctA>ctG	p.L497L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	497					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TAAACATAGGTAGTTTGGAGA	0.453000													34	56					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56137841G>A	ENST00000319441.4	+	4	660	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	166					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTCACCCTACGTGGTGGCCAG	0.617000													13	44					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961108	5961108	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5961108T>G	ENST00000531445.1	-	7	2293	c.2247A>C	c.(2245-2247)gaA>gaC	p.E749D	C4orf50_ENST00000324058.5_Missense_Mutation_p.E275D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	275										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCTATTACATTTCTAACTCCA	0.448000													38	61					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5560680	5560680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5560680C>A	ENST00000379019.4	-	7	659	c.447G>T	c.(445-447)aaG>aaT	p.K149N	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	149					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTAATTTTTTCTTGGTTATTG	0.338000													13	21					2.27111e-07	2.60515e-07	1	1	0
DNAAF1	123872	broad.mit.edu	37	16	84193391	84193391	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84193391C>T	ENST00000378553.5	+	6	977	c.853C>T	c.(853-855)Cca>Tca	p.P285S	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P285S|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	285	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCAGTGTTTCCAAAGGACAG	0.353000													18	33					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62518818	62518818	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62518818A>C	ENST00000556440.2	+	8	1225		c.e8-1		CEP95_ENST00000553412.1_Splice_Site	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa							centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTGTCTTACTAGCGGAAACCC	0.388000													20	33					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95578263	95578263	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95578263C>T	ENST00000393223.3	-	13	1686	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	MTMR2_ENST00000352297.7_Missense_Mutation_p.V342I|MTMR2_ENST00000409459.1_Missense_Mutation_p.V342I|MTMR2_ENST00000346299.5_Missense_Mutation_p.V414I	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	414	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGCACTACCACAGACGTC	0.448000													21	29					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56233805	56233805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56233805C>A	ENST00000264228.4	+	4	841	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	205					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GTTCCATATTCTTGGGATGAT	0.408000													23	42					2.21704e-12	2.79328e-12	1	1	0
CENPK	64105	broad.mit.edu	37	5	64814413	64814413	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64814413T>G	ENST00000396679.1	-	11	913	c.699A>C	c.(697-699)aaA>aaC	p.K233N	CENPK_ENST00000514814.1_Missense_Mutation_p.K233N|CENPK_ENST00000510693.1_Missense_Mutation_p.K170N|CENPK_ENST00000508421.1_Missense_Mutation_p.K203N|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.K233N	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	233					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATCACTAATTTTGACATATG	0.343000													17	34					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39537563	39537563	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:39537563C>A	ENST00000265707.5	+	16	1684	c.1639C>A	c.(1639-1641)Ctc>Atc	p.L547I	ADAM18_ENST00000379866.1_Missense_Mutation_p.L523I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	547	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGGGATGTTCTCTGTGGAAA	0.338000													9	13					1.12685e-05	1.24509e-05	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101556891	101556891	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101556891G>A	ENST00000370449.4	+	7	783	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E224K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	224						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTGACACTCGAGGATGTCTG	0.517000													18	37					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77275552	77275552	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:77275552C>A	ENST00000376896.2	+	5	1269	c.657C>A	c.(655-657)atC>atA	p.I219I	RORB_ENST00000396204.2_Silent_p.I230I	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	230	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CACAGAACATCATTAAGTCCC	0.378000													39	67					1.04594e-18	1.41924e-18	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118112414	118112414	+	Translation_Start_Site	SNP	G	G	A	rs140224937	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118112414G>A	ENST00000422289.2	+	0	721				LONRF3_ENST00000304778.7_Silent_p.P308P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.P308P|LONRF3_ENST00000365713.2_Silent_p.P308P			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3						proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTCCGCCCGATGGGTTTTA	0.498000													23	54					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651537	121651537	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:121651537T>C	ENST00000393386.2	+	12	2848	c.2437T>C	c.(2437-2439)Tcc>Ccc	p.S813P	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	813					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATCCTGTCTTCCTATGATGG	0.458000													71	103					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49570157	49570157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49570157A>C	ENST00000545947.1	+	6	2935	c.2213A>C	c.(2212-2214)gAc>gCc	p.D738A	DAG1_ENST00000308775.2_Missense_Mutation_p.D738A|DAG1_ENST00000515359.2_Missense_Mutation_p.D738A|DAG1_ENST00000538711.1_Missense_Mutation_p.D738A|DAG1_ENST00000539901.1_Missense_Mutation_p.D738A|DAG1_ENST00000541308.1_Missense_Mutation_p.D738A	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	738					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGTGCCTGACAGGGACCCT	0.592000													25	54					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225402	192225402	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:192225402G>T	ENST00000392318.3	+	8	855	c.608G>T	c.(607-609)aGa>aTa	p.R203I	MYO1B_ENST00000304164.4_Missense_Mutation_p.R203I|MYO1B_ENST00000339514.4_Missense_Mutation_p.R203I|MYO1B_ENST00000392316.1_Missense_Mutation_p.R203I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	203	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAGGTGAAAGAAACTTCCAT	0.398000													39	94					1.47244e-24	2.06782e-24	1	1	0
CCDC111	0	broad.mit.edu	37	4	185593505	185593505	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185593505G>A	ENST00000314970.6	+	7	1168	c.735G>A	c.(733-735)tcG>tcA	p.S245S	CCDC111_ENST00000515774.1_Silent_p.S116S|CCDC111_ENST00000512834.1_Silent_p.S245S|CCDC111_ENST00000503752.1_Silent_p.S245S	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		245					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		GCTGGACATCGAATTCAAAGA	0.428000													32	51					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57555431	57555431	+	Silent	SNP	C	C	A	rs151235578	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57555431C>A	ENST00000267811.5	+	17	1936	c.1632C>A	c.(1630-1632)tcC>tcA	p.S544S	TCF12_ENST00000543579.1_Silent_p.S398S|TCF12_ENST00000333725.5_Silent_p.S568S|TCF12_ENST00000343827.3_Silent_p.S374S|TCF12_ENST00000537840.1_Silent_p.S308S|TCF12_ENST00000559703.1_Silent_p.S202S|TCF12_ENST00000452095.2_Silent_p.S564S|TCF12_ENST00000559710.1_Silent_p.S178S|TCF12_ENST00000438423.2_Silent_p.S568S|TCF12_ENST00000557843.1_Silent_p.S544S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	544					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGATGAATCCTCCCAAAAAG	0.343000			T	TEC	extraskeletal myxoid chondrosarcoma								5	34					0.014758	0.015099	1	1	0
CAPSL	133690	broad.mit.edu	37	5	35910012	35910012	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35910012T>G	ENST00000397367.2	-	4	607	c.481A>C	c.(481-483)Aaa>Caa	p.K161Q	CAPSL_ENST00000397366.1_Missense_Mutation_p.K161Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.K161Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	161	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCCAGAAATTTCCTAAATACT	0.368000													12	75					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12512515	12512515	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:12512515G>T	ENST00000409402.4	-	5	1012	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	SPIRE1_ENST00000410092.3_Missense_Mutation_p.Q249K|SPIRE1_ENST00000383356.2_Missense_Mutation_p.Q90K|SPIRE1_ENST00000309836.5_Missense_Mutation_p.Q52K|SPIRE1_ENST00000453447.2_Missense_Mutation_p.Q129K	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	249			Q -> P (in dbSNP:rs1785296).			cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCCATTTCTTGAATCTTCTTA	0.338000													9	24					1.58986e-06	1.78832e-06	1	1	0
FAT4	79633	broad.mit.edu	37	4	126370224	126370224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370224C>T	ENST00000394329.3	+	9	8066	c.8053C>T	c.(8053-8055)Cga>Tga	p.R2685*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R983*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2685	Cadherin 26.				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						CCTTTCCCCTCGAAAAATACT	0.343000													56	75					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68171142	68171142	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68171142A>C	ENST00000294304.7	+	8	1882	c.1776A>C	c.(1774-1776)aaA>aaC	p.K592N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	592	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGGCTCAAAGCTGTGAATG	0.627000													7	69					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129768979	129768979	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129768979C>A	ENST00000338144.3	-	13	1902	c.1485G>T	c.(1483-1485)atG>atT	p.M495I	ENOX2_ENST00000394363.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370935.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370927.1_Missense_Mutation_p.M495I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	495					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATTTTCCAACATTTTTTCCA	0.368000													9	20					5.4927e-09	6.54492e-09	1	1	0
MPP5	64398	broad.mit.edu	37	14	67745898	67745898	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67745898C>T	ENST00000261681.4	+	3	672	c.11C>T	c.(10-12)tCc>tTc	p.S4F	MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Missense_Mutation_p.S4F	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	4					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)		ATGACAACATCCCATATGAAT	0.368000													9	23					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150907	132150907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132150907C>T	ENST00000378693.2	+	1	1875	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	532																	AATCTCTCGTCGACCTACTCC	0.567000													12	34					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29797891	29797891	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29797891G>T	ENST00000269202.6	+	14	2101	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	MEP1B_ENST00000581447.1_Missense_Mutation_p.R685M	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	685					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						TATCGTGAAAGGATGAGCTCA	0.398000													22	25					1.9806e-07	2.28356e-07	1	1	0
TBX5	6910	broad.mit.edu	37	12	114803995	114803995	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114803995T>G	ENST00000310346.4	-	8	1623	c.957A>C	c.(955-957)caA>caC	p.Q319H	TBX5_ENST00000349716.5_Missense_Mutation_p.Q269H|TBX5_ENST00000526441.1_Missense_Mutation_p.Q319H|TBX5_ENST00000405440.2_Missense_Mutation_p.Q319H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	319					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AATGGTAAATTTGGCTATGCT	0.532000													7	65					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619047	52619047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52619047C>A	ENST00000600228.1	-	4	1631	c.1370G>T	c.(1369-1371)aGa>aTa	p.R457I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTATGAATTCTCCAATGCAC	0.403000													37	60					2.38352e-08	2.80976e-08	1	1	0
IGSF5	150084	broad.mit.edu	37	21	41151230	41151230	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151230G>T	ENST00000380588.4	+	5	1035	c.932G>T	c.(931-933)aGa>aTa	p.R311I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	311						integral to membrane|tight junction		p.R311I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AGAAGAAAAAGAGGTAATTTT	0.413000													9	26					2.62144e-13	3.35237e-13	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48630635	48630635	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630635G>T	ENST00000328333.8	-	5	689	c.582C>A	c.(580-582)ttC>ttA	p.F194L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F194L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	194	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAAGAAGAAGAAGTCACTGG	0.567000													9	66					0.000442599	0.00046913	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79084796	79084796	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79084796C>A	ENST00000446378.2	+	10	11589	c.11558C>A	c.(11557-11559)tCt>tAt	p.S3853Y	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3853	Fibronectin type-III 2.					perinuclear region of cytoplasm		p.S3853Y(1)		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)		GTATTTAGATCTTTCTCTGGA	0.338000													24	39					3.5997e-14	4.67138e-14	1	1	0
NME9	347736	broad.mit.edu	37	3	138025310	138025310	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:138025310C>A	ENST00000383180.2	-	8	527	c.290G>T	c.(289-291)aGg>aTg	p.R97M	NME9_ENST00000341790.5_Missense_Mutation_p.R95M|NME9_ENST00000317876.4_Missense_Mutation_p.R97M|NME9_ENST00000333911.3_Missense_Mutation_p.R158M|NME9_ENST00000536478.1_Missense_Mutation_p.R97M|NME9_ENST00000484930.1_Missense_Mutation_p.R95M	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	158	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGTACAGGTCCTCTCTGATGA	0.458000													13	40					0.00136819	0.00143372	1	1	0
CYP7A1	1581	broad.mit.edu	37	8	59409553	59409553	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59409553G>T	ENST00000301645.3	-	3	655	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	173					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGCAGAAAGAATACATCCC	0.453000									Neonatal Giant Cell Hepatitis				32	101					3.67414e-24	5.15076e-24	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33292587	33292587	+	Silent	SNP	C	C	A	rs149001001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33292587C>A	ENST00000280979.4	+	13	5738	c.5568C>A	c.(5566-5568)gtC>gtA	p.V1856V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1856					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAAAACGTGTCTCTGAAAATA	0.353000													28	40					2.14196e-07	2.46404e-07	1	1	0
MTF2	22823	broad.mit.edu	37	1	93581174	93581174	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:93581174G>A	ENST00000370298.4	+	6	920	c.632_splice	c.e6+1	p.D211_splice	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Splice_Site_p.D109_splice|MTF2_ENST00000540243.1_Splice_Site_p.D109_splice|MTF2_ENST00000370303.4_Splice_Site_p.D211_splice	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	211						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AGGCCCTGGAGAGTAAGTAAA	0.383000													4	51					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62477118	62477118	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62477118T>G	ENST00000383710.4	-	21	3271	c.2922A>C	c.(2920-2922)caA>caC	p.Q974H	CADPS_ENST00000283269.9_Missense_Mutation_p.Q984H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q944H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	974	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAAACAGGTCTTGCAGGTGTT	0.428000													14	83					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610603	81610603	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81610603A>G	ENST00000541158.2	+	11	2523	c.2201A>G	c.(2200-2202)aAc>aGc	p.N734S	TSHR_ENST00000298171.2_Missense_Mutation_p.N734S|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	734					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGTCTCCACAACATGGAAGAT	0.473000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						37	59					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85969606	85969606	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85969606T>C	ENST00000373131.1	+	5	1111	c.948T>C	c.(946-948)ccT>ccC	p.P316P	DACH2_ENST00000508860.1_Silent_p.P162P|DACH2_ENST00000373125.4_Silent_p.P329P|DACH2_ENST00000510272.1_Silent_p.P110P	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCAGCTTACCTCCTGCATCAG	0.438000													17	93					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240857	126240857	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240857A>G	ENST00000394329.3	+	1	3304	c.3291A>G	c.(3289-3291)agA>agG	p.R1097R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1097	Cadherin 10.				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						ATGATAACAGACCTCTTTTTA	0.393000													18	98					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425876	75425876	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75425876C>A	ENST00000305249.4	-	1	950	c.185G>T	c.(184-186)aGa>aTa	p.R62I	TACR1_ENST00000409848.3_Missense_Mutation_p.R62I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	62					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGTCCTCATTCTTTTGTGGGC	0.522000													17	38					4.7546e-09	5.67505e-09	1	1	0
MED13L	23389	broad.mit.edu	37	12	116446641	116446641	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116446641T>G	ENST00000281928.3	-	10	1783	c.1577A>C	c.(1576-1578)gAt>gCt	p.D526A		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	526					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATTTGCTTATCATATTTCCT	0.468000													21	25					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81224277	81224277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81224277C>A	ENST00000599697.1	-	9	1663	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	555	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACACTCTTTCCTTCAGCATT	0.413000													35	79					2.19962e-31	3.1472e-31	1	1	0
GPR37	2861	broad.mit.edu	37	7	124404113	124404113	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:124404113C>A	ENST00000303921.2	-	1	1568	c.918G>T	c.(916-918)tgG>tgT	p.W306C		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	306						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGAAAGTCCCAGAAGGCCA	0.552000													25	116					4.26978e-12	5.35675e-12	1	1	0
A2M	2	broad.mit.edu	37	12	9220799	9220799	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:9220799T>C	ENST00000318602.7	-	35	4695	c.4388A>G	c.(4387-4389)tAc>tGc	p.Y1463C		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1463					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGAGCATTGTACTCAGCAAT	0.428000													8	11					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26373245	26373245	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26373245C>T	ENST00000356386.2	+	6	1024	c.836C>T	c.(835-837)gCt>gTt	p.A279V	BTN3A2_ENST00000396934.3_Missense_Mutation_p.A256V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A237V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A279V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	279						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAATAACTGCTCTGTCCAGT	0.512000													28	58					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833745	82833745	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82833745C>T	ENST00000265077.3	+	8	5488	c.4923C>T	c.(4921-4923)ggC>ggT	p.G1641G	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.G654G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1641	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTACAGAAGGCTCTGGAGAAG	0.418000													16	38					0	0	1	0	0
POC1B-GALNT4	0	broad.mit.edu	37	12	89917476	89917476	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89917476A>C	ENST00000548729.1	-	3	1144	c.842T>G	c.(841-843)tTt>tGt	p.F281C	POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.F284C	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ATGCCACTGAAATGTTAAACG	0.458000													24	40					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65223707	65223707	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65223707C>T	ENST00000380230.3	+	8	721	c.692C>T	c.(691-693)tCg>tTg	p.S231L	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S231L|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S231L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	231					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCCTGCATTCGGCTGCTGGA	0.622000													16	24					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102378997	102378997	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102378997T>G	ENST00000376131.4	-	4	682	c.587A>C	c.(586-588)aAa>aCa	p.K196T	FGF14_ENST00000376143.4_Missense_Mutation_p.K191T	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	191					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTGCTGGTTTGGTTTTCTT	0.358000													26	37					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24077751	24077751	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24077751A>C	ENST00000418390.2	+	4	1005	c.734A>C	c.(733-735)cAg>cCg	p.Q245P		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	245					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATGCCTTTCAGGACAGACTC	0.542000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	90					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3817823	3817823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3817823C>A	ENST00000262367.5	-	16	3957	c.3148G>T	c.(3148-3150)Gaa>Taa	p.E1050*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1050					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGTTTCTTTTCATCCACTTCC	0.433000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						35	56					2.20262e-25	3.10409e-25	1	1	0
STK4	6789	broad.mit.edu	37	20	43653766	43653766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43653766G>A	ENST00000372806.3	+	10	1395	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STK4_ENST00000372801.1_Missense_Mutation_p.E434K|STK4_ENST00000499879.2_Missense_Mutation_p.E379K|STK4_ENST00000396731.4_Missense_Mutation_p.E434K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	434	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGGAGACTACGAGTTTGTAAG	0.378000													12	37					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951526	130951526	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:130951526C>T	ENST00000312988.7	-	4	989	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	297					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGGCTGGCTCGAAGCAGGCA	0.597000													75	131					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15344081	15344081	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15344081C>A	ENST00000333590.4	-	3	887	c.803G>T	c.(802-804)aGa>aTa	p.R268I	PIGA_ENST00000542278.1_Missense_Mutation_p.R34I|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	268					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAAAATGATTCTCTTTGGTCC	0.358000													33	78					1.56442e-22	2.17472e-22	1	1	0
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	76						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)					CTACAAATGTCGTGGAGCCAA	0.453000													37	54					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46659193	46659193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46659193G>T	ENST00000544460.1	+	1	3582	c.3328G>T	c.(3328-3330)Gaa>Taa	p.E1110*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1110*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1110					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATACCAGAAGAAGTGGTGGT	0.378000													35	70					4.62619e-21	6.37263e-21	1	1	0
PCDHGC3	0	broad.mit.edu	37	5	140858062	140858062	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140858062T>C	ENST00000308177.3	+	1	2483	c.2379T>C	c.(2377-2379)gaT>gaC	p.D793D	PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGATCCGGTGTTCT	0.582000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	15					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494612	134494612	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494612C>T	ENST00000339249.4	+	5	1308	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCGATTCACTCGGCGGTCACA	0.413000													43	80					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49305000	49305000	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49305000A>G	ENST00000559471.1	-	12	1839	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S481P	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	526										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTGTGAAAAGAAGCTGCAGTA	0.348000													4	47					0	0	1	0	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159819394	159819394	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159819394C>T	ENST00000497452.1	-	0	517																											GCAGAAAACTCGAAAGCAGAA	0.507000													43	82					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394020	154394020	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154394020G>A	ENST00000435029.4	+	1	761	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	201	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGGACTGTGGCCTCCACAGC	0.458000													11	100					0	0	1	0	0
NACAP1	0	broad.mit.edu	37	8	102381499	102381499	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:102381499T>G	ENST00000419462.1	+	0	911					NR_002182.1																						CCTACATGGTTTTTGGGGAAG	0.418000													41	60					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17033869	17033869	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17033869C>T	ENST00000492551.1	-	0	609					NR_026567.1																						CCGTCGCGGTCGCGGACTTCC	0.706000													5	49					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80737720	80737720	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80737720A>C	ENST00000509894.1	+	13	2339	c.1510A>C	c.(1510-1512)Aat>Cat	p.N504H	TTK_ENST00000230510.3_Missense_Mutation_p.N504H|TTK_ENST00000369798.2_Missense_Mutation_p.N505H			P33981	TTK_HUMAN	TTK protein kinase	505					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCACTTCAAAATTTACAGGT	0.373000													12	35					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617627	31617627	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617627G>A	ENST00000409210.1	+	6	657	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.R250Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.R276Q			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	250										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAGAGCATCGAAGAAGAATG	0.483000													10	24					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	465979	465979	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:465979G>A	ENST00000437048.2	-	14	1466	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	VPS53_ENST00000291074.5_Silent_p.L411L|VPS53_ENST00000571805.1_Silent_p.L440L|VPS53_ENST00000446250.2_Silent_p.L242L|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Silent_p.L163L	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	440					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCAGCTCTCCGAGGTTCCTAG	0.468000													21	34					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911148	166911148	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166911148G>A	ENST00000423058.2	-	4	619	c.602_splice	c.e4+1	p.A201_splice	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.A201_splice|SCN1A_ENST00000375405.3_Splice_Site_p.A201_splice|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Splice_Site_p.A201_splice	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	201						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGCACTTACGCAAATGTAAT	0.343000													10	27					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155023920	155023920	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155023920T>C	ENST00000356955.2	+	1	159	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	ADAM15_ENST00000368413.1_Missense_Mutation_p.S20P|ADAM15_ENST00000531455.1_Missense_Mutation_p.S20P|ADAM15_ENST00000368412.3_Missense_Mutation_p.S20P|ADAM15_ENST00000447332.3_Missense_Mutation_p.S20P|ADAM15_ENST00000359280.4_Missense_Mutation_p.S20P|ADAM15_ENST00000368410.2_Missense_Mutation_p.S20P|ADAM15_ENST00000271836.6_Missense_Mutation_p.S20P|ADAM15_ENST00000360674.4_Missense_Mutation_p.S20P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.S20P|ADAM15_ENST00000449910.2_Missense_Mutation_p.S20P	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	20					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCTCTGCCTTCCTGGCCGCT	0.701000													5	7					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258050	56258050	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56258050G>T	ENST00000327216.2	-	1	821	c.797C>A	c.(796-798)tCt>tAt	p.S266Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTGTTCAACAGATTCCTTTGA	0.378000													6	41					0.0381472	0.0387537	1	1	0
PSG6	5675	broad.mit.edu	37	19	43411078	43411078	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:43411078G>T	ENST00000187910.2	-	5	1301	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	PSG6_ENST00000402603.4_Silent_p.V319V|PSG6_ENST00000292125.2_Silent_p.V412V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTTACCAGAGACTTTGACTA	0.443000													102	197					3.78979e-47	5.49226e-47	1	1	0
SLC6A20	54716	broad.mit.edu	37	3	45817310	45817310	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45817310G>A	ENST00000358525.4	-	4	640	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SLC6A20_ENST00000353278.4_Silent_p.L175L|SLC6A20_ENST00000456124.2_Silent_p.L175L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	175					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCCAGGCCAGGAGGAGGCACA	0.637000													45	47					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134152	128134152	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:128134152C>A	ENST00000368250.1	-	5	1895	c.1397G>T	c.(1396-1398)aGa>aTa	p.R466I	THEMIS_ENST00000368248.2_Missense_Mutation_p.R545I|THEMIS_ENST00000537166.1_Missense_Mutation_p.R510I|THEMIS_ENST00000543064.1_Missense_Mutation_p.R545I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	545	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTTCATATCTCCGCATCAT	0.458000													38	57					1.42033e-22	1.97588e-22	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119583269	119583269	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119583269C>T	ENST00000267260.4	+	9	1243	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	285	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGAGTACGACTCAGGAA	0.607000													10	9					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048879	70048879	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70048879G>T	ENST00000330891.5	-	10	2041	c.1815C>A	c.(1813-1815)aaC>aaA	p.N605K	BEST3_ENST00000488961.1_Missense_Mutation_p.N392K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.N499K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	605						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGACTTAGGTTTCCCAGGG	0.483000													19	41					1.10923e-09	1.34134e-09	1	1	0
ILF3	3609	broad.mit.edu	37	19	10794354	10794354	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10794354G>A	ENST00000449870.1	+	16	2223	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ILF3_ENST00000588657.1_Missense_Mutation_p.E636K|ILF3_ENST00000318511.3_Missense_Mutation_p.E632K|ILF3_ENST00000407004.3_Missense_Mutation_p.E636K|ILF3_ENST00000420083.1_Missense_Mutation_p.E632K|ILF3_ENST00000590261.1_Missense_Mutation_p.E632K|ILF3_ENST00000589998.1_Missense_Mutation_p.E632K|ILF3_ENST00000592763.1_Missense_Mutation_p.E636K|ILF3_ENST00000250241.8_Missense_Mutation_p.E632K	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	632	Interaction with PRMT1.|Poly-Pro.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CATGCACAACGAAGTGCCCCC	0.622000													21	38					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365965	26365965	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26365965G>T	ENST00000522362.2	-	3	1201	c.307C>A	c.(307-309)Ctt>Att	p.L103I		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	103					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aatctttcaagaaactcagtg	0.537000													25	36					1.10923e-09	1.34134e-09	1	1	0
DNAJC10	54431	broad.mit.edu	37	2	183621136	183621136	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621136C>A	ENST00000264065.6	+	18	2164	c.1749C>A	c.(1747-1749)ttC>ttA	p.F583L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	583	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTTGATTTCTATTCTCCGT	0.388000													9	41					3.09899e-07	3.54467e-07	1	1	0
IGSF5	150084	broad.mit.edu	37	21	41151135	41151135	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151135G>A	ENST00000380588.4	+	5	940	c.837G>A	c.(835-837)ccG>ccA	p.P279P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	279						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGACGCCGACGTGTACTC	0.483000													26	41					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643396	185643396	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185643396G>A	ENST00000453386.2	-	3	464	c.189C>T	c.(187-189)agC>agT	p.S63S	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	63	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GCCTTCGGGAGCTTCTTCTGG	0.458000													15	31					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182591616	182591616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182591616C>T	ENST00000323116.5	+	19	2325	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	689					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATAAAGTTCGAGAAACTAT	0.323000													17	30					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057257	53057257	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53057257G>T	ENST00000359798.4	+	5	1268	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R363T(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383000													6	96					0.00198382	0.00207034	1	1	0
ASPM	259266	broad.mit.edu	37	1	197073886	197073886	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197073886G>A	ENST00000367409.4	-	18	4751	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1499					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAGCACCGAAATCTTTTC	0.313000													12	23					0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18284997	18284997	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18284997G>A	ENST00000399134.4	+	4	657	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	100										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGCCGCCCCGACGTGGGATC	0.607000													16	41					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710160	41710160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41710160C>T	ENST00000400454.1	-	8	2128	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	551	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAATGCCACTTGGCGGTGG	0.458000													26	68					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561822	55561822	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55561822G>T	ENST00000436346.1	-	15	2976	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S712Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S712Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S712Y|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	712					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACACTTCAAAGATTCTACATT	0.378000													17	34					2.48551e-13	3.17925e-13	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236748338	236748338	+	Missense_Mutation	SNP	A	A	C	rs141347838	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236748338A>C	ENST00000366582.3	-	17	2342	c.2228T>G	c.(2227-2229)gTc>gGc	p.V743G	HEATR1_ENST00000366581.2_Missense_Mutation_p.V743G	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	743					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCAGTAATGACACTTTCAAG	0.388000													3	27					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107936062	107936062	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107936062G>T	ENST00000328300.6	+	50	4857	c.4613G>T	c.(4612-4614)aGa>aTa	p.R1538I	COL4A5_ENST00000361603.2_Missense_Mutation_p.R1532I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1532	Collagen IV NC1.		W -> S (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGCTTCAAGAAATGACTAT	0.483000									Alport syndrome with Diffuse Leiomyomatosis				32	50					9.65021e-13	1.22324e-12	1	1	0
LRBA	987	broad.mit.edu	37	4	151821337	151821337	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151821337C>T	ENST00000535741.1	-	14	2261	c.1788G>A	c.(1786-1788)acG>acA	p.T596T	LRBA_ENST00000510413.1_Silent_p.T596T|LRBA_ENST00000507224.1_Silent_p.T596T|LRBA_ENST00000357115.3_Silent_p.T596T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAATGAATTCCGTGGACAGAT	0.408000													14	27					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7844978	7844978	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:7844978T>C	ENST00000420658.1	-	5	706	c.434A>G	c.(433-435)gAg>gGg	p.E145G	AFAP1_ENST00000382543.3_Missense_Mutation_p.E145G|AFAP1_ENST00000360265.4_Missense_Mutation_p.E145G|AFAP1_ENST00000358461.2_Missense_Mutation_p.E145G	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	145						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CATGGAGGCCTCCTCGGAGGG	0.562000													8	25					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57183336	57183336	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57183336G>A	ENST00000607273.1	+	2	180	c.93G>A	c.(91-93)caG>caA	p.Q31Q	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	31					DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTACTTGCAGCCACCTTCTG	0.368000													4	8					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007600	8007600	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007600G>A	ENST00000344293.5	+	3	2333	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	709	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aggagaagaagaaaaagaagg	0.413000													10	18					0	0	1	0	0
RP11-385D13.1	0	broad.mit.edu	37	17	15519060	15519060	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15519060G>A	ENST00000455584.2	-	8	1542	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CDRT1_ENST00000395906.3_Missense_Mutation_p.A190V																							TTGTGAGGTCGCAGACTTGGA	0.478000													5	33					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67700159	67700159	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:67700159A>C	ENST00000545606.1	+	10	3148	c.2711A>C	c.(2710-2712)aAa>aCa	p.K904T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	904					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGTCAACCCAAAAGGCAGTAT	0.413000													14	18					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94032978	94032978	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94032978G>A	ENST00000370244.1	-	13	2445	c.2157C>T	c.(2155-2157)cgC>cgT	p.R719R	BCAR3_ENST00000260502.6_Silent_p.R719R|BCAR3_ENST00000370247.3_Silent_p.R628R|BCAR3_ENST00000539242.1_Silent_p.R395R|BCAR3_ENST00000370243.1_Silent_p.R719R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	719	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCACAGCCTGGCGCTCCATTA	0.483000													8	53					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163927	73163927	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73163927T>G	ENST00000545377.1	+	20	2476	c.2300T>G	c.(2299-2301)tTc>tGc	p.F767C	ARHGEF28_ENST00000426542.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F454C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F767C	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TCTCCTAGCTTCAGGAGGTCA	0.522000													3	18					0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107197556	107197556	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:107197556G>A	ENST00000542267.1	-	9	2377	c.1971C>T	c.(1969-1971)aaC>aaT	p.N657N	FBXL17_ENST00000359660.5_Silent_p.N259N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	657										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CCGTCACTTCGTTGACCTGCA	0.577000													17	33					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052725	15052725	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15052725G>A	ENST00000248072.3	+	1	425	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGCTCTGTGGACTGCTGGTT	0.542000													52	85					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66303753	66303753	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66303753T>C	ENST00000448504.2	+	2	915	c.119T>C	c.(118-120)aTt>aCt	p.I40T	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	40					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACTTTGTGATTATTTTGGCC	0.473000													5	66					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028210	150028210	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150028210T>C	ENST00000394243.1	+	3	1479	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	SYNPO_ENST00000522122.1_Missense_Mutation_p.S369P|SYNPO_ENST00000307662.4_Missense_Mutation_p.S125P|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Missense_Mutation_p.S125P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	369					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAACTCCCATCTAATGGCAC	0.572000													29	190					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908701	103908701	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908701T>A	ENST00000302259.3	+	1	1394	c.1151T>A	c.(1150-1152)aTt>aAt	p.I384N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	384					proteolysis		aspartic-type endopeptidase activity	p.I384S(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GACAAGGAAATTACACATTCA	0.458000													16	17					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362120	9362120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9362120G>A	ENST00000456448.1	+	1	515	c.401G>A	c.(400-402)aGt>aAt	p.S134N		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGCTCCTGAGTGTGATGGCC	0.478000													21	35					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85697170	85697170	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85697170A>C	ENST00000253458.7	+	11	2770	c.2594A>C	c.(2593-2595)aAg>aCg	p.K865T	GSE1_ENST00000393243.1_Missense_Mutation_p.K792T|GSE1_ENST00000405402.2_Missense_Mutation_p.K761T	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GAAAAGAAGAAGTTCCTGACC	0.562000													31	72					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24560270	24560270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24560270C>T	ENST00000319715.4	+	3	703	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBBP6_ENST00000452655.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.R91*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTTAGAAGTCGAACTGAACC	0.274000													6	7					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99922392	99922392	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99922392C>A	ENST00000373004.3	+	9	1511	c.1083C>A	c.(1081-1083)atC>atA	p.I361I		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	361					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATGCAGATCTCTATGCTAC	0.448000													27	45					1.7881e-09	2.15438e-09	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112227655	112227655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112227655G>T	ENST00000391338.1	+	1	343	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						atggctagaagaacaagagag	0.423000													9	10					0.000274275	0.000292037	1	1	0
ALX1	8092	broad.mit.edu	37	12	85680696	85680696	+	Silent	SNP	G	G	A	rs79907632	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85680696G>A	ENST00000316824.3	+	3	752	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	199					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TACAACAAGCGAAAAGCCATT	0.368000													16	26					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37831647	37831647	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37831647G>A	ENST00000381967.4	+	2	243	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PGM2_ENST00000537241.1_5'UTR|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	48					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GAAGAACTACGAAAATGTTTT	0.433000													22	27					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36744477	36744477	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:36744477T>A	ENST00000280527.2	+	12	2365	c.1998T>A	c.(1996-1998)ttT>ttA	p.F666L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	666					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAGATGACTTTGTGGTGCAGA	0.458000													26	37					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10653561	10653561	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10653561G>A	ENST00000547195.1	-	3	604	c.104C>T	c.(103-105)tCc>tTc	p.S35F	MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.S117F|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.S35F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S117F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S35F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S126F|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S117F|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.S126F|MRVI1_ENST00000558540.1_5'UTR	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	117					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGGCAGTGGACACCTTCAA	0.493000													14	32					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30689247	30689247	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30689247G>A	ENST00000534862.1	+	14	1809	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	HCK_ENST00000375852.2_Silent_p.P502P|HCK_ENST00000518730.1_Silent_p.P480P|HCK_ENST00000375862.2_Silent_p.P501P|HCK_ENST00000520553.1_Silent_p.P481P|HCK_ENST00000538448.1_Silent_p.P481P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	502	Protein kinase.				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)			AGGAGCGGCCGACCTTCGAAT	0.592000													6	18					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172516	78172516	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172516T>C	ENST00000369947.2	-	1	974	c.605A>G	c.(604-606)aAc>aGc	p.N202S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	202					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTGGTCGGTGTTCACCACGCA	0.587000													7	34					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593765	101593765	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101593765C>T	ENST00000310954.6	-	7	1441	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	385					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAACTAAACACATAAAGACAG	0.303000													10	28					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651994	248651994	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488000													23	90					2.05212e-20	2.81235e-20	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46746599	46746599	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:46746599G>T	ENST00000394809.4	-	10	2190	c.2075C>A	c.(2074-2076)cCc>cAc	p.P692H	MYLK3_ENST00000536476.1_Missense_Mutation_p.P351H	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	692	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATGTCTGTGGGGAATGAGAC	0.527000													24	69					2.98393e-07	3.42142e-07	1	1	0
GPR179	440435	broad.mit.edu	37	17	36482602	36482602	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36482602C>A	ENST00000342292.4	-	11	6870	c.6850G>T	c.(6850-6852)Gat>Tat	p.D2284Y	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2284						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGAAGTGATCCAGAGGCCCA	0.493000													62	107					2.66076e-39	3.84021e-39	1	1	0
ANKK1	255239	broad.mit.edu	37	11	113270689	113270689	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113270689G>A	ENST00000303941.3	+	8	2092	c.1998G>A	c.(1996-1998)gcG>gcA	p.A666A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	666							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCCACCTGGCGGTCCAGAGGA	0.647000													26	47					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31021321	31021321	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31021321A>C	ENST00000375687.4	+	12	1744	c.1320A>C	c.(1318-1320)aaA>aaC	p.K440N	ASXL1_ENST00000306058.5_Missense_Mutation_p.K435N	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	440					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGATGCAAAATCTGTGGCCT	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								5	110					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119301348	119301348	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119301348G>A	ENST00000338891.7	-	10	2699	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	FAM184A_ENST00000521531.1_Silent_p.V752V|FAM184A_ENST00000368475.4_Silent_p.V632V|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.V632V	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	752										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GAAATGCAAGGACATGTGCTT	0.388000													15	40					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953524	56953524	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56953524T>C	ENST00000504904.3	-	7	1559	c.840A>G	c.(838-840)acA>acG	p.T280T	ZNF667_ENST00000342634.3_Silent_p.T408T|ZNF667_ENST00000292069.6_Silent_p.T280T|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATATTTATGTGTTTTCTTTC	0.363000													14	49					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188819	203188819	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203188819C>A	ENST00000367229.1	-	8	922	c.888G>T	c.(886-888)aaG>aaT	p.K296N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.K277N|CHIT1_ENST00000535569.1_Missense_Mutation_p.K287N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	296					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCCTCCTTCCTTGGTGAAGG	0.587000													24	49					2.70639e-06	3.02606e-06	1	1	0
SNHG14	0	broad.mit.edu	37	15	25302011	25302011	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25302011C>T	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA																							GTGCTTGGATCGATGATGAGT	0.507000													44	94					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497922	20497922	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20497922G>T	ENST00000573854.1	+	14	1770	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N	ACSM2A_ENST00000219054.6_Missense_Mutation_p.K552N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K552N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.K552N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K324N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K473N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	552					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACCTGCCCAAGACTGTCACAG	0.468000													18	159					8.34094e-07	9.42356e-07	1	1	0
NRAS	4893	broad.mit.edu	37	1	115256514	115256514	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115256514G>A	ENST00000369535.4	-	3	450	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	66					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			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)		GTCTCTCATGGCACTGTACTC	0.443000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			39	73					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284157	101284157	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101284157C>A	ENST00000309922.6	+	2	686	c.532C>A	c.(532-534)Cta>Ata	p.L178I		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GAAAAACTTTCTATTTTTACG	0.408000													15	35					3.27435e-08	3.83577e-08	1	1	0
PPIE	10450	broad.mit.edu	37	1	40207070	40207070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40207070G>T	ENST00000324379.5	+	3	182	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000372830.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000356511.2_Nonsense_Mutation_p.E55*|PPIE_ENST00000470213.1_Nonsense_Mutation_p.E55*	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	55	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTTGAATTTGAGTTGGCAGA	0.383000													23	36					9.04412e-07	1.02139e-06	1	1	0
FRY	10129	broad.mit.edu	37	13	32759225	32759225	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32759225C>A	ENST00000380250.3	+	26	3755	c.3259C>A	c.(3259-3261)Ctt>Att	p.L1087I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1087					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTTGAAATTCTTAAAGATAT	0.438000													6	96					0.00116845	0.00122532	1	1	0
TTN	7273	broad.mit.edu	37	2	179441428	179441428	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179441428C>A	ENST00000589042.1	-	325	69767	c.69543G>T	c.(69541-69543)aaG>aaT	p.K23181N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14308N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14241N|TTN_ENST00000342992.6_Missense_Mutation_p.K20613N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14116N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21540N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21540	Fibronectin type-III 68.						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)			GCAGGCTTTTCTTTTCTCTCC	0.453000													59	100					2.3441e-25	3.30017e-25	1	1	0
DTNA	1837	broad.mit.edu	37	18	32459636	32459636	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32459636T>C	ENST00000283365.9	+	19	2214	c.1863T>C	c.(1861-1863)ccT>ccC	p.P621P	DTNA_ENST00000590831.2_Silent_p.P104P|DTNA_ENST00000556414.3_Silent_p.P330P|DTNA_ENST00000591182.1_Silent_p.P326P|DTNA_ENST00000601125.1_Silent_p.P300P|DTNA_ENST00000399121.5_Silent_p.P625P|DTNA_ENST00000444659.1_Silent_p.P678P|DTNA_ENST00000269190.7_Silent_p.P679P|DTNA_ENST00000269192.7_Silent_p.P387P|DTNA_ENST00000595022.1_Silent_p.P618P|DTNA_ENST00000399113.3_Silent_p.P678P|DTNA_ENST00000399097.3_Silent_p.P326P|DTNA_ENST00000598142.1_Silent_p.P621P|DTNA_ENST00000598334.1_Silent_p.P618P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	678					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCCGAAAACCTGGGTACATTC	0.458000													18	27					0	0	1	0	0
TRAV12-1	0	broad.mit.edu	37	14	22309784	22309784	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:22309784C>T	ENST00000390433.1	+	0	168																											AGTCTTTCTTCTGGTACAGAC	0.483000													24	48					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105648830	105648830	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105648830G>A	ENST00000224950.3	-	9	1116	c.949_splice	c.e9+1	p.H317_splice	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Splice_Site_p.H317_splice	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	317					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	p.H317Y(2)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.498000													18	32					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777415	43777415	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:43777415C>A	ENST00000389420.3	-	31	4742	c.4743G>T	c.(4741-4743)aaG>aaT	p.K1581N		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1581	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCTGCAATTCTTGGATGTAA	0.368000													9	22					7.48243e-07	8.49459e-07	1	1	0
PACS2	23241	broad.mit.edu	37	14	105857575	105857575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105857575C>T	ENST00000447393.1	+	20	2250	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	PACS2_ENST00000430725.2_Missense_Mutation_p.S613L|PACS2_ENST00000458164.2_Missense_Mutation_p.S703L|PACS2_ENST00000551743.1_Missense_Mutation_p.S202L|PACS2_ENST00000547217.1_Missense_Mutation_p.S658L|PACS2_ENST00000325438.8_Missense_Mutation_p.S688L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	688					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAGCCATCCTCGGCCACATCA	0.602000													21	44					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66201816	66201816	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66201816G>A	ENST00000273854.3	-	16	3286	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	EPHA5_ENST00000354839.4_Missense_Mutation_p.R874C|EPHA5_ENST00000432638.2_Missense_Mutation_p.R733C|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	896	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTGGCAGACGATAGCCTTCC	0.438000										TSP Lung(17;0.13)			12	29					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186415580G>T	ENST00000391997.2	-	3	278	c.191C>A	c.(190-192)tCa>tAa	p.S64*	PDC_ENST00000456239.2_Nonsense_Mutation_p.S12*|PDC_ENST00000340129.5_Nonsense_Mutation_p.S64*|PDC_ENST00000497198.1_Nonsense_Mutation_p.S12*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338000													18	27					0.000566183	0.00059967	1	1	0
CLEC4A	50856	broad.mit.edu	37	12	8276482	8276482	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8276482C>T	ENST00000229332.5	+	1	255	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CLEC4A_ENST00000360500.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S3L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	3					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTATGACTTCGGAAATCACT	0.378000													17	23					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136259	21136259	+	Missense_Mutation	SNP	G	G	A	rs140149624		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21136259G>A	ENST00000269228.5	-	8	1828	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S175L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	425					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCAGCTCCCGAAGGGTATGG	0.498000													24	54					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493698	71493698	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71493698G>T	ENST00000296755.7	+	5	4814	c.4516G>T	c.(4516-4518)Gat>Tat	p.D1506Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1506						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CACACAAATAGATGTCAGTCA	0.428000													27	47					1.66031e-10	2.0393e-10	1	1	0
PCDHAC1	0	broad.mit.edu	37	5	140308918	140308918	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140308918A>C	ENST00000409700.3	+	1	2617	c.2441A>C	c.(2440-2442)aAa>aCa	p.K814T	PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031882.2	NP_114088.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTAAGCAAATTTTATGGA	0.403000													41	89					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39800865	39800865	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:39800865G>A	ENST00000373272.2	+	25	3246	c.2841G>A	c.(2839-2841)aaG>aaA	p.K947K	PLCG1_ENST00000244007.3_Silent_p.K947K|PLCG1_ENST00000373271.1_Silent_p.K947K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	947					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AACGGAGGAAGAAGATTGCCC	0.592000													27	177					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271895	22271895	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22271895G>A	ENST00000594947.1	+	4	1487	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCTTATTCGACATAAGATA	0.378000													20	28					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779844	36779844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36779844C>A	ENST00000416516.2	-	2	797	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTACTGGGTTCTGGCTCCCAT	0.582000													60	123					1.13205e-32	1.62219e-32	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52538226	52538226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52538226T>A	ENST00000261839.7	-	17	2154	c.1993A>T	c.(1993-1995)Aga>Tga	p.R665*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	665	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)		TGAACAATTCTTTTGGAGTCA	0.458000													5	17					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103299592	103299592	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103299592A>G	ENST00000376052.3	+	21	2542	c.2526A>G	c.(2524-2526)ctA>ctG	p.L842L	TPP2_ENST00000376065.4_Silent_p.L842L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	842					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGCCCACTACTTTGTGAAC	0.358000													8	22					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89271369	89271369	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89271369T>G	ENST00000316005.7	+	11	2050	c.1691T>G	c.(1690-1692)aTt>aGt	p.I564S	PKN2_ENST00000370521.3_Intron|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Intron|PKN2_ENST00000370505.3_Intron			Q16513	PKN2_HUMAN	protein kinase N2	0					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTGTCTGAGATTTTAAGCATC	0.433000													9	13					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79601519	79601519	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79601519A>C	ENST00000263849.4	+	5	517	c.415A>C	c.(415-417)Aat>Cat	p.N139H	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	139								p.N139H(1)									TAGACATATAAATTTCTGTAA	0.338000													13	29					0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232660931	232660931	+	Missense_Mutation	SNP	G	G	A	rs147144693		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232660931G>A	ENST00000373608.3	+	5	550	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	COPS7B_ENST00000410024.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000410017.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000409295.1_Missense_Mutation_p.R114Q|COPS7B_ENST00000409091.1_Missense_Mutation_p.R41Q|COPS7B_ENST00000350033.3_Missense_Mutation_p.R148Q			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	148	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGGACCAGCGAAACCAGCTG	0.483000													31	33					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303889	53303889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53303889C>T	ENST00000438150.2	-	2	1943	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	ZNF28_ENST00000414252.2_Silent_p.R350R|ZNF28_ENST00000457749.2_Silent_p.R403R|ZNF28_ENST00000360272.4_Silent_p.R350R			P17035	ZNF28_HUMAN	zinc finger protein 28	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAATCCTCTTATGTC	0.373000													41	83					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54791868	54791868	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:54791868C>T	ENST00000297313.3	+	2	308	c.216C>T	c.(214-216)ttC>ttT	p.F72F	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	72					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGAAGCTGTTCGGCCTCCTTT	0.647000													68	158					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23932558	23932558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23932558C>A	ENST00000382298.3	-	7	1108	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Nonsense_Mutation_p.E174*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	174					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGCTATTTCTTGAATGCCG	0.438000													47	73					2.14642e-42	3.10745e-42	1	1	0
PLS1	5357	broad.mit.edu	37	3	142395077	142395077	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142395077T>C	ENST00000337777.3	+	5	656	c.443T>C	c.(442-444)aTg>aCg	p.M148T	PLS1_ENST00000457734.2_Missense_Mutation_p.M148T|PLS1_ENST00000497002.1_Missense_Mutation_p.M148T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	148	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTATACCCATGAATCCCAAT	0.413000													34	79					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590607	136590607	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136590607A>C	ENST00000531224.1	-	9	2439	c.2187T>G	c.(2185-2187)gaT>gaG	p.D729E	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D727E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D556E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D727E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D729E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D727E|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363000													4	69					0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012694	153012694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153012694C>T	ENST00000368757.1	-	2	409	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SPRR2D_ENST00000368756.1_Silent_p.Q43Q|SPRR2D_ENST00000368758.3_Silent_p.Q43Q|SPRR2D_ENST00000360379.3_Silent_p.Q43Q			P22532	SPR2D_HUMAN	small proline-rich protein 2D	43	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	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)			GTGGGCAGGGCTGTGGACACT	0.617000													25	176					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88761434	88761434	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88761434G>A	ENST00000444431.1	+	0	2564				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GCTCGTGTTCGACAATATTCC	0.383000													34	57					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054270	33054270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33054270A>C	ENST00000311388.3	+	7	1543	c.1167A>C	c.(1165-1167)aaA>aaC	p.K389N	DEPDC7_ENST00000241051.3_Missense_Mutation_p.K398N	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	398					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGACAATAAAAATTTATCCA	0.274000													27	45					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35836059	35836059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35836059C>T	ENST00000314607.6	+	7	1092	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R338*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	338					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACAGCTGTTCGAGTTTCCTG	0.458000													18	32					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70441492	70441492	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:70441492C>A	ENST00000433529.2	-	12	1233	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	TIA1_ENST00000445587.1_Intron|TIA1_ENST00000415783.2_Missense_Mutation_p.Q330H|TIA1_ENST00000282574.4_Missense_Mutation_p.Q340H|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	341					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TAAATCCTTGCTGGTTCCATG	0.378000													14	21					6.72482e-11	8.31618e-11	1	1	0
HTR1B	3351	broad.mit.edu	37	6	78172749	78172749	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172749G>T	ENST00000369947.2	-	1	741	c.372C>A	c.(370-372)ttC>ttA	p.F124L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	124			F -> C (in dbSNP:rs130060).		G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	ACGACAGCCAGAAGTCACAGA	0.612000													33	76					4.11147e-13	5.25189e-13	1	1	0
SAV1	60485	broad.mit.edu	37	14	51132015	51132015	+	Missense_Mutation	SNP	A	A	C	rs147005969	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51132015A>C	ENST00000324679.4	-	2	780	c.417T>G	c.(415-417)ttT>ttG	p.F139L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	139					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GACCATCAAAAAAATTGTCTG	0.393000													28	29					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22790860	22790860	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:22790860G>T	ENST00000400546.1	+	11	1700	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	NCAM2_ENST00000284894.7_Missense_Mutation_p.R342I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	484	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAGGAACAAGATTTCAAGAA	0.308000													24	42					4.4004e-07	5.01286e-07	1	1	0
CARTPT	9607	broad.mit.edu	37	5	71015769	71015769	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71015769G>T	ENST00000296777.4	+	2	353	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	74					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCTATGAGAAGAAGTATGGCC	0.498000													27	56					7.26314e-15	9.49782e-15	1	1	0
TTC26	79989	broad.mit.edu	37	7	138845780	138845780	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138845780T>G	ENST00000474035.2	+	8	884	c.804T>G	c.(802-804)gaT>gaG	p.D268E	TTC26_ENST00000343187.4_Intron|TTC26_ENST00000481482.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	384							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGAATAACGATTTCCCGTCTT	0.393000													7	15					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71235797	71235797	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71235797A>C	ENST00000418814.2	+	15	3624	c.3010A>C	c.(3010-3012)Aat>Cat	p.N1004H	FAM135A_ENST00000370479.3_Missense_Mutation_p.N791H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N808H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N1004H|FAM135A_ENST00000505769.1_Missense_Mutation_p.N584H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N791H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1004										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGATGTATTAAATCTCACACA	0.348000													18	16					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959445	27959445	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27959445G>A	ENST00000269033.3	-	15	2837	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R923C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	896					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATTCTTACGAGTGGACAAT	0.512000													76	138					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160120524	160120524	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160120524C>A	ENST00000357388.3	+	4	830	c.379C>A	c.(379-381)Ctt>Att	p.L127I	SMC4_ENST00000360111.2_Missense_Mutation_p.L127I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L127I|SMC4_ENST00000469762.1_Missense_Mutation_p.L102I|SMC4_ENST00000344722.5_Missense_Mutation_p.L127I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	127					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATTCTATGCTTTTTGTGTT	0.338000													24	45					1.10923e-09	1.34134e-09	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35771815	35771815	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35771815A>C	ENST00000440995.2	+	27	3891	c.3891A>C	c.(3889-3891)aaA>aaC	p.K1297N	SPEF2_ENST00000356031.3_Missense_Mutation_p.K1302N|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1302					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAGTCAAAAAGGAGCCAC	0.408000													3	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544538	82544538	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82544538A>C	ENST00000423517.2	-	7	13101	c.12764T>G	c.(12763-12765)tTt>tGt	p.F4255C	PCLO_ENST00000333891.8_Missense_Mutation_p.F4255C|PCLO_ENST00000437081.1_Missense_Mutation_p.F975C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4186	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGATCCCATAAATTTTTGTTG	0.458000													8	19					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126314910	126314910	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126314910A>G	ENST00000334379.5	+	2	201	c.80A>G	c.(79-81)aAg>aGg	p.K27R	TRMT11_ENST00000450358.1_Missense_Mutation_p.K27R|TRMT11_ENST00000368332.3_Missense_Mutation_p.K27R|TRMT11_ENST00000489934.1_Intron	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	27					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CAGGAAATAAAGTCTTTGCTT	0.299000													14	17					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122281828	122281828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122281828C>T	ENST00000261369.4	+	3	408	c.223C>T	c.(223-225)Cga>Tga	p.R75*	SNX24_ENST00000506996.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000395451.4_Nonsense_Mutation_p.R108*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.R75*	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	75	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGAACAGCGACGACAAGGCTT	0.343000													11	20					0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93150140	93150140	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93150140C>T	ENST00000344636.3	+	8	857	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	225	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CAGACACCTTCTCTATGAAGG	0.363000													19	34					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242079418	242079418	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079418T>C	ENST00000403638.3	-	4	573	c.482A>G	c.(481-483)gAc>gGc	p.D161G	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D161G|PASK_ENST00000405260.1_Missense_Mutation_p.D161G|PASK_ENST00000358649.4_Missense_Mutation_p.D161G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	161	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAATCAGGTCCTGGCTGCT	0.587000													14	20					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170487452	170487452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170487452G>A	ENST00000260970.3	+	10	936	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q|PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R239Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAAATTCCCGAAAACACAAG	0.333000													12	17					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739053	164739053	+	Missense_Mutation	SNP	C	C	A	rs121912616	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164739053C>A	ENST00000264382.3	-	27	3280	c.3218G>T	c.(3217-3219)gGc>gTc	p.G1073V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1073	Sucrase.		G -> D (in CSID).		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)	AATCTGGATGCCAAAAGGATT	0.343000										HNSCC(35;0.089)			34	63					8.88839e-20	1.21309e-19	1	1	0
UBE2G1	7326	broad.mit.edu	37	17	4210374	4210374	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4210374C>T	ENST00000396981.2	-	2	256	c.91G>A	c.(91-93)Gat>Aat	p.D31N	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	31					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(4)|skin(1)	7						TCATTGTCATCTATTAAACCT	0.353000													23	30					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17507410	17507410	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17507410A>C	ENST00000381869.3	-	12	3757	c.3284T>G	c.(3283-3285)aTc>aGc	p.I1095S	MTUS1_ENST00000519263.1_Missense_Mutation_p.I1095S|MTUS1_ENST00000262102.6_Missense_Mutation_p.I1149S|MTUS1_ENST00000381861.3_Missense_Mutation_p.I396S|MTUS1_ENST00000400046.1_Missense_Mutation_p.I221S|MTUS1_ENST00000544260.1_Missense_Mutation_p.I294S|MTUS1_ENST00000297488.6_Missense_Mutation_p.I315S|MTUS1_ENST00000518713.1_5'UTR	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1149						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTCATTCTTGATCTCTAACAC	0.378000													29	56					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122774932	122774932	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:122774932G>A	ENST00000368454.1	-	7	901	c.572C>T	c.(571-573)tCg>tTg	p.S191L	SERINC1_ENST00000339697.3_Missense_Mutation_p.S191L			Q9NRX5	SERC1_HUMAN	serine incorporator 1	191					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CCAACATCTCGAGTTCCCTTC	0.388000													9	54					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152086435	152086435	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152086435A>C	ENST00000368804.1	-	1	121	c.122T>G	c.(121-123)tTt>tGt	p.F41C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	41	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGCTCCAAATTCCCTTTC	0.403000													9	54					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12825950	12825950	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12825950C>T	ENST00000425528.1	-	9	1039	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TNPO2_ENST00000592287.1_Missense_Mutation_p.E228K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E228K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E228K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E228K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E228K|TNPO2_ENST00000589956.1_Intron			O14787	TNPO2_HUMAN	transportin 2	228					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCCGCACCTCGGGGTCATCA	0.617000													24	37					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002290	170002290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170002290G>A	ENST00000263816.3	-	70	13240	c.12955C>T	c.(12955-12957)Cga>Tga	p.R4319*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4319					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)	TGAAAGATTCGAACTTGAGTG	0.363000													8	53					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103040636	103040636	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040636G>A	ENST00000418604.1	+	3	410	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	PLP1_ENST00000303958.2_Missense_Mutation_p.E44K|PLP1_ENST00000361621.2_Missense_Mutation_p.E44K	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	44					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CACTGGCACAGAAAAGCTAAT	0.483000													60	124					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185681620	185681620	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185681620T>C	ENST00000515030.1	-	18	1998	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	ACSL1_ENST00000437665.3_Missense_Mutation_p.H387R|ACSL1_ENST00000454703.2_Missense_Mutation_p.H387R|ACSL1_ENST00000507295.1_Missense_Mutation_p.H524R|ACSL1_ENST00000513317.1_Missense_Mutation_p.H558R|ACSL1_ENST00000281455.2_Missense_Mutation_p.H558R|ACSL1_ENST00000504342.1_Missense_Mutation_p.H558R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	558					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTAAATATGTGCTTTTTCCG	0.463000													123	255					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224482015	224482015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224482015C>T	ENST00000281701.6	-	12	1538	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	NVL_ENST00000361463.3_Missense_Mutation_p.D321N|NVL_ENST00000469075.1_Missense_Mutation_p.D336N|NVL_ENST00000482491.1_Missense_Mutation_p.D151N|NVL_ENST00000391875.2_Missense_Mutation_p.D321N|NVL_ENST00000340871.4_Missense_Mutation_p.D238N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	427						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATTTCTCGGTCGAACCTTCCC	0.453000													20	47					0	0	1	0	0
TMEM208	29100	broad.mit.edu	37	16	67262716	67262716	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67262716A>G	ENST00000563953.1	+	5	532	c.106A>G	c.(106-108)Atc>Gtc	p.I36V	TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000565201.1_Missense_Mutation_p.I106V|TMEM208_ENST00000304800.9_Missense_Mutation_p.I106V			Q9BTX3	TM208_HUMAN	transmembrane protein 208	106						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TAAGGATGTGATCCTACTGAC	0.527000													35	68					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101589141	101589141	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101589141T>C	ENST00000375011.3	+	3	649	c.649T>C	c.(649-651)Tct>Cct	p.S217P		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	217	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCTGGGGGCGTCTGCGGCGAG	0.667000													7	10					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155631027	155631027	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155631027A>C	ENST00000405763.3	-	9	1491	c.1481T>G	c.(1480-1482)cTt>cGt	p.L494R	YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000368330.2_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000368339.5_Intron|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000295566.4_Intron|MSTO1_ENST00000538143.1_Intron					YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGATTAAGGAAGTCCTTGATA	0.453000													15	30					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29642678	29642678	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29642678C>T	ENST00000318184.5	-	6	576	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	193	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGTTCCATTTCTTGTAGGACA	0.448000													6	10					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215868969	215868969	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215868969C>T	ENST00000272895.7	-	20	2866	c.2647G>A	c.(2647-2649)Gat>Aat	p.D883N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D565N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	883					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAACAGCATCGAGTCCCACG	0.333000													9	18					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921846	46921846	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46921846C>T	ENST00000378623.1	-	3	525	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	95	LDL-receptor class A 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCTCACAGTCGTTGTCCCCG	0.527000													45	70					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89992944	89992944	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89992944G>A	ENST00000428670.3	-	20	3757	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	ATP2B1_ENST00000359142.3_Missense_Mutation_p.R1101W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1065W|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R844W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1101W			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1101	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGGCCACGCCGCAACTCCCTT	0.473000													16	93					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343387	118343387	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118343387G>A	ENST00000534358.1	+	3	1536	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D505N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D505N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GGAGCGGAGCGATACCCCTGA	0.493000													8	154					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943085	6943085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6943085G>T	ENST00000317834.3	+	1	881	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACTACAAAAGAACTGGATAA	0.423000													30	42					2.47511e-08	2.91589e-08	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109394800	109394800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109394800C>A	ENST00000370001.3	-	2	755	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E163*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	163										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGGGTTTGTTCTTTTGGCCAA	0.408000													23	43					1.55469e-16	2.07108e-16	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35763639	35763639	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35763639T>C	ENST00000440995.2	+	26	3621	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	SPEF2_ENST00000356031.3_Silent_p.P1212P|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1212					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTAGTTCCTCGAATATCCA	0.333000													13	29					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40599857	40599857	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40599857G>T	ENST00000260402.3	-	1	266	c.17C>A	c.(16-18)cCt>cAt	p.P6H	PLCB2_ENST00000543785.2_Missense_Mutation_p.P6H|PLCB2_ENST00000456256.2_Missense_Mutation_p.P6H|PLCB2_ENST00000557821.1_Missense_Mutation_p.P6H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	6					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)		CAGCAGGACAGGGTTGAGCAG	0.607000													4	36					0.000602214	0.000636035	1	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360500	71360500	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360500A>C	ENST00000244230.2	+	2	914	c.562A>C	c.(562-564)Aac>Cac	p.N188H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N188H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	188					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CAAGGTGCAAAACAAAGGACA	0.388000													23	58					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82373692	82373692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:82373692C>A	ENST00000379071.2	-	1	122	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	23							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCACCCAGTTCTTTCATGTAA	0.398000													9	121					0.000274275	0.000292037	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22368874	22368874	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22368874A>G	ENST00000332663.2	+	1	397	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCATTGCACAGCTCTTCTTC	0.463000													7	368					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207575305	207575305	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207575305C>T	ENST00000452335.2	-	2	153	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	13						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ATGGAATTCTCAATACTATTA	0.323000													9	6					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77935522	77935522	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77935522G>A	ENST00000216479.3	+	9	1107	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	316					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCGGACGCGACAGGGCTGG	0.577000													10	191					0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111540115	111540115	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111540115C>T	ENST00000368850.3	+	4	729	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SLC16A10_ENST00000368851.5_Silent_p.F395F			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	395					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGGGTCTCTTCGATGGATGCT	0.468000													39	77					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149982885	149982885	+	Missense_Mutation	SNP	G	G	A	rs139248642		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:149982885G>A	ENST00000543571.1	-	8	3920	c.3373C>T	c.(3373-3375)Cgc>Tgc	p.R1125C	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1125					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)		ACTAGATCGCGATTTTTAATC	0.353000													30	50					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689471	60689471	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:60689471A>G	ENST00000335712.6	-	4	803	c.576T>C	c.(574-576)acT>acC	p.T192T	BCL11A_ENST00000358510.4_Silent_p.T158T|BCL11A_ENST00000537768.1_Silent_p.T40T|BCL11A_ENST00000359629.5_Silent_p.T192T|BCL11A_ENST00000538214.1_Silent_p.T158T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.T192T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	192	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTAATCCATGAGTGTTCTGTG	0.488000			T	IGH@	B-CLL								15	50					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968024	99968024	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99968024A>G	ENST00000298999.3	+	5	456	c.153A>G	c.(151-153)caA>caG	p.Q51Q	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.Q51Q|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AAGAAAAGCAAAAAGAAAGTT	0.403000													8	59					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255579	42255579	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42255579G>A	ENST00000293414.1	+	5	1267	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	395					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTAGGAGCACGAAGCCTTCTA	0.637000													7	26					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88622302	88622302	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88622302C>A	ENST00000361671.5	+	14	1279	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	382					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAAAAAGGTCTTTGGAACTC	0.383000													7	100					0.00307968	0.00320271	1	1	0
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35461197G>A	ENST00000378880.2	-	8	1523	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453000													28	60					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39784901	39784901	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39784901G>T	ENST00000553728.1	+	20	3189	c.2976G>T	c.(2974-2976)gaG>gaT	p.E992D	CTAGE5_ENST00000557038.1_Missense_Mutation_p.E377D|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E462D|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E382D|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E457D|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E445D|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E428D|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E428D																							TTTCCCATGAGAAAAAAGCAC	0.269000													20	58					5.26018e-13	6.70247e-13	1	1	0
ZNF543	125919	broad.mit.edu	37	19	57839976	57839976	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57839976C>A	ENST00000321545.4	+	4	1491	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		GTGCAGACCTCATTCAACACT	0.507000													26	56					3.6726e-16	4.87283e-16	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53454211	53454211	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454211C>T	ENST00000357666.4	-	5	1117	c.817G>A	c.(817-819)Gta>Ata	p.V273I	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.V273I|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGATGATATACAATGTATTGC	0.383000													31	75					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100568703	100568703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568703C>T	ENST00000358544.2	+	31	4957	c.4846C>T	c.(4846-4848)Cga>Tga	p.R1616*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1616					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)			AGGAATTCTTCGAGATCCTGG	0.358000													15	15					0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51898953	51898953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51898953G>T	ENST00000300091.5	+	6	1293	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	C18orf54_ENST00000382911.4_Nonsense_Mutation_p.E482*|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Nonsense_Mutation_p.E100*	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	321						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGATCCAAAAGAAGAGATTAA	0.303000													17	36					3.52763e-06	3.92945e-06	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36874470	36874470	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36874470A>G	ENST00000279024.4	-	2	333	c.62T>C	c.(61-63)tTc>tCc	p.F21S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTGGCCTCGAAAGGAGGATA	0.597000													18	29					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323664	107323664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107323664T>G	ENST00000265715.3	+	7	1007	c.783T>G	c.(781-783)ttT>ttG	p.F261L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	261					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGAGATTTTTCAAAATATTG	0.388000									Pendred syndrome				15	26					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962679	10962679	+	Translation_Start_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10962679G>T	ENST00000240691.2	-	0	88					NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9						sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCATGCCAGCAAAGACTTG	0.368000													15	39					7.93312e-07	8.98086e-07	1	1	0
UBE2M	9040	broad.mit.edu	37	19	59068073	59068073	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59068073C>T	ENST00000253023.3	-	4	906	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	110					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	p.V110I(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		TTGAGGCAGACGTTGCCCTCG	0.587000													10	28					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42799615	42799615	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:42799615A>C	ENST00000310232.6	-	2	305		c.e2+1		CCDC13_ENST00000435327.2_Splice_Site	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACTTGCATTTACCTCTTCTCA	0.483000													21	39					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755216	146755216	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146755216G>A	ENST00000361719.2	+	9	3339	c.2869G>A	c.(2869-2871)Gta>Ata	p.V957I	GRM1_ENST00000282753.1_Missense_Mutation_p.V957I|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	957					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTTTACAACGTAGAGGAGGA	0.587000													15	138					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96123832	96123832	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:96123832C>T	ENST00000458427.1	+	1	675	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	JRKL_ENST00000332349.4_Missense_Mutation_p.R7C|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	7	HTH psq-type.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAACGGAAGCGTGTGGTGTT	0.428000													14	34					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529841	169529841	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169529841G>A	ENST00000367796.3	-	4	738	c.537C>T	c.(535-537)atC>atT	p.I179I	F5_ENST00000546081.1_Silent_p.I42I|F5_ENST00000367797.3_Silent_p.I179I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	179	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAAATCCTCGATCAGATTTT	0.458000													37	68					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70757899	70757899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70757899G>A	ENST00000373719.3	+	3	656	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	OGT_ENST00000373701.3_Missense_Mutation_p.V137I|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	147					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACAAGCTTACGTCTCTGCTCT	0.428000													13	21					0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155898	173155898	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173155898G>A	ENST00000281834.3	-	3	445	c.309C>T	c.(307-309)atC>atT	p.I103I	TNFSF4_ENST00000367718.1_Silent_p.I53I	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	103					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCTTCAGGGAGATGAGATAAA	0.458000													26	29					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62364120	62364120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62364120G>A	ENST00000278823.2	-	9	1260	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	MTA2_ENST00000524902.1_Missense_Mutation_p.R118C|MTA2_ENST00000527204.1_Missense_Mutation_p.R118C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	291	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAATCCTGGCGAATATCATTG	0.542000													31	53					0	0	1	0	0
RAB18	22931	broad.mit.edu	37	10	27826849	27826849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27826849G>T	ENST00000356940.6	+	7	592	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	RAB18_ENST00000535776.1_Nonsense_Mutation_p.E100*|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Nonsense_Mutation_p.E119*	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	164					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						TGCCTTTGAAGAACTTGTTGA	0.428000													25	50					1.10923e-09	1.34134e-09	1	1	0
IL1RAP	0	broad.mit.edu	37	3	190363530	190363530	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190363530C>T	ENST00000412504.2	+	10	1496	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	IL1RAP_ENST00000443369.2_Missense_Mutation_p.A415V|IL1RAP_ENST00000072516.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000439062.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.A415V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	415	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCAAGGAATGCGGAAGAAGAA	0.388000													15	18					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750509	79750509	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79750509A>G	ENST00000305428.3	+	2	2095	c.2020A>G	c.(2020-2022)Aaa>Gaa	p.K674E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	674						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCACGGACCCAAACTAGAGAA	0.557000													7	247					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92083511	92083511	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92083511G>T	ENST00000285420.4	+	2	417	c.318G>T	c.(316-318)gaG>gaT	p.E106D	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	76										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CTACTAAGGAGAATAAGGTAT	0.373000													28	56					1.68575e-08	1.99097e-08	1	1	0
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124642454G>A	ENST00000311075.3	-	3	592	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	185	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383000													18	43					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22024873	22024873	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22024873T>G	ENST00000406385.1	+	3	161	c.101T>G	c.(100-102)tTt>tGt	p.F34C	PPIL2_ENST00000335025.7_Missense_Mutation_p.F34C|PPIL2_ENST00000456792.2_Missense_Mutation_p.F34C|PPIL2_ENST00000412327.1_Missense_Mutation_p.F34C|PPIL2_ENST00000398831.3_Missense_Mutation_p.F34C|PPIL2_ENST00000492445.2_Missense_Mutation_p.F34C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	34					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CAAACAAATTTTCGTCGTTTA	0.368000													20	35					0	0	1	0	0
P2RY10	0	broad.mit.edu	37	X	78216975	78216975	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78216975G>T	ENST00000171757.2	+	4	1238	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	P2RY10_ENST00000544091.1_Missense_Mutation_p.G320C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	320						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATCCCGCCATGGCAGTTCTGT	0.448000													6	105					0.000673444	0.000709932	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	816					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R816W(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCCCTGTGCGGCTGAGCTC	0.577000													18	46					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7557947	7557947	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7557947T>C	ENST00000250111.4	+	5	961	c.552_splice	c.e5-1	p.V185_splice		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	185					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCACTCCAGGTCATCAACTTC	0.532000													18	136					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125682120	125682120	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125682120A>C	ENST00000373656.3	-	2	167	c.94T>G	c.(94-96)Ttt>Gtt	p.F32V	ZBTB26_ENST00000373654.1_Missense_Mutation_p.F32V	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ACATCACAAAATTTATTCTCT	0.328000													10	15					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3974124	3974124	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3974124A>C	ENST00000381638.2	-	26	4053	c.3929T>G	c.(3928-3930)cTt>cGt	p.L1310R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1310							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						TCCTTTGAAAAGTTCTGAATA	0.463000													30	67					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113599158	113599158	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113599158A>C	ENST00000314045.7	-	19	2357	c.2330T>G	c.(2329-2331)aTt>aGt	p.I777S	DDX54_ENST00000306014.5_Missense_Mutation_p.I777S|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	777					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACGATCATCAATTTTCTGTTT	0.587000													24	27					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52211328	52211328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52211328A>C	ENST00000282588.6	+	15	2350	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	631					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAGACACTGAAATTTTTTGGC	0.423000													39	63					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157218887	157218887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157218887C>A	ENST00000523094.1	-	10	1355	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E402*|CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E402*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E384*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	402					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	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)			CTAACAAGTTCTACCGCTGGC	0.542000													28	49					1.42536e-11	1.77514e-11	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996502	140996502	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996502G>T	ENST00000285879.4	+	4	3598	c.3312G>T	c.(3310-3312)aaG>aaT	p.K1104N	MAGEC1_ENST00000406005.2_Missense_Mutation_p.K171N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1104	MAGE.						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)					CCTCTTACAAGGATGCTTTGA	0.463000										HNSCC(15;0.026)			62	85					9.10829e-22	1.2621e-21	1	1	0
RIC8A	60626	broad.mit.edu	37	11	209947	209947	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:209947C>A	ENST00000526104.1	+	3	2017	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	RIC8A_ENST00000325207.5_Missense_Mutation_p.L225I|RIC8A_ENST00000527696.1_Missense_Mutation_p.L219I			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	225						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATGGAGATCCTCAAAGTGCT	0.582000													6	55					2.7689e-08	3.25926e-08	1	1	0
OR4D5	219875	broad.mit.edu	37	11	123810531	123810531	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123810531G>A	ENST00000307033.2	+	1	282	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTTTCCTGGACTTTTGCTA	0.468000													32	63					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910745	4910745	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910745A>C	ENST00000396658.4	+	6	1455	c.752A>C	c.(751-753)aAa>aCa	p.K251T	UBN1_ENST00000590769.1_Missense_Mutation_p.K251T|UBN1_ENST00000262376.6_Missense_Mutation_p.K251T|UBN1_ENST00000585857.1_Intron|UBN1_ENST00000545171.1_Missense_Mutation_p.K251T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	251	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGCTAAAGAAATTTCAGAAA	0.483000													49	72					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100183298	100183298	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100183298G>A	ENST00000328526.5	-	1	600	c.35C>T	c.(34-36)tCg>tTg	p.S12L	XKRX_ENST00000468904.1_5'UTR|XKRX_ENST00000372956.2_5'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	0						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GTCCATTGTCGAGGTTCTTTC	0.498000													94	195					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137881390	137881390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137881390C>A	ENST00000260803.4	-	8	1129	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	DBR1_ENST00000505015.2_Nonsense_Mutation_p.E92*	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	326						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCCAATACTTCTTTCATACCT	0.333000													21	46					1.87028e-06	2.10206e-06	1	1	0
CENPC	1060	broad.mit.edu	37	4	68372634	68372634	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68372634C>T	ENST00000273853.6	-	11	2173	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K		NM_001812.2	NP_001803.2			centromere protein C																		TATCTTCATTCTTTGAGCTTC	0.343000													8	24					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160112755	160112755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160112755C>A	ENST00000409990.3	-	9	1340	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.E270*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.E362*	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	362	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAACAGTTCTTTTCCATCA	0.338000													10	26					1.33987e-11	1.67053e-11	1	1	0
KIT	3815	broad.mit.edu	37	4	55602731	55602731	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55602731A>G	ENST00000288135.5	+	18	2649	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	851	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGAAAGTGACGTCTGGTCC	0.408000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				29	72					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578790	169578790	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169578790G>A	ENST00000263686.6	-	8	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000458599.2_Missense_Mutation_p.R367W	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	429	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTATCACACCGAACTATATCG	0.488000													24	45					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720871	89720871	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89720871T>G	ENST00000371953.3	+	8	2379	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	341	C2 tensin-type.		F -> V (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F341C(1)|p.W274_F341del(1)|p.S338fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTCCAAATTTTAAGGTCAGT	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			16	33					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135383085	135383085	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:135383085C>T	ENST00000442011.2	+	6	908	c.747C>T	c.(745-747)atC>atT	p.I249I	TGFBI_ENST00000305126.8_Silent_p.I249I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	249	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGAGATCGAGGACACCT	0.572000													90	159					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838345	100838345	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100838345G>T	ENST00000369208.3	-	12	2975	c.2193C>A	c.(2191-2193)tcC>tcA	p.S731S	SIM1_ENST00000262901.4_Silent_p.S731S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	731	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TACAGCCCAAGGAATAGTTTC	0.448000													27	84					1.66031e-10	2.0393e-10	1	1	0
ARIH1	25820	broad.mit.edu	37	15	72855808	72855808	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72855808A>G	ENST00000379887.4	+	7	1192	c.878A>G	c.(877-879)aAa>aGa	p.K293R		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	293					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGATGCTAAACCTGTTCGC	0.393000													11	44					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419685	53419685	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:53419685G>T	ENST00000377942.3	-	2	2917	c.2714C>A	c.(2713-2715)tCt>tAt	p.S905Y	PCDH8_ENST00000338862.4_Missense_Mutation_p.S808Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	905					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTCTGCCAGAAATGGTGTT	0.577000													5	54					0.014758	0.015099	1	1	0
ALB	213	broad.mit.edu	37	4	74283943	74283943	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:74283943C>T	ENST00000295897.4	+	12	1656	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	ALB_ENST00000415165.2_Missense_Mutation_p.P331S|ALB_ENST00000509063.1_Missense_Mutation_p.P523S|ALB_ENST00000503124.1_Missense_Mutation_p.P373S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.P408S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	523	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AACATACGTTCCCAAAGAGTT	0.428000													21	38					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19643488	19643488	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19643488G>A	ENST00000514277.3	+	3	292	c.257G>A	c.(256-258)cGc>cAc	p.R86H	CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.4_Missense_Mutation_p.R36H	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	86	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						GAGGATTATCGCTTTGGGCGG	0.642000											OREG0025384	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89929205	89929205	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89929205C>A	ENST00000389297.4	+	17	2133	c.1882C>A	c.(1882-1884)Cta>Ata	p.L628I	C7orf63_ENST00000316089.8_Missense_Mutation_p.L628I|C7orf63_ENST00000497910.1_Missense_Mutation_p.L610I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	628							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATTCTGTAATCTAATACTTGG	0.318000													7	8					2.7689e-08	3.25926e-08	1	1	0
TEC	7006	broad.mit.edu	37	4	48178116	48178116	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48178116T>G	ENST00000381501.3	-	3	383	c.226A>C	c.(226-228)Aat>Cat	p.N76H		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	76	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GGATACTTATTTTGACAGGGA	0.378000													19	37					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118581	4118581	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:4118581C>A	ENST00000324333.10	-	3	625	c.432G>T	c.(430-432)aaG>aaT	p.K144N	GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	144	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCGCTCTCTTCTTGGAGCGGG	0.562000													52	74					2.29192e-23	3.20424e-23	1	1	0
DDHD1	0	broad.mit.edu	37	14	53619307	53619307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53619307C>T	ENST00000357758.3	-	1	693	c.510G>A	c.(508-510)tgG>tgA	p.W170*	DDHD1_ENST00000323669.5_Nonsense_Mutation_p.W170*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.W170*	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	170					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCTTGTAGAACCAGCGTACCT	0.672000													13	39					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27003939	27003939	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:27003939A>T	ENST00000382009.3	+	6	1254	c.987A>T	c.(985-987)aaA>aaT	p.K329N	STIM2_ENST00000412829.2_Missense_Mutation_p.K329N|STIM2_ENST00000467087.1_Missense_Mutation_p.K242N|STIM2_ENST00000465503.1_Missense_Mutation_p.K242N|STIM2_ENST00000467011.1_Missense_Mutation_p.K242N|STIM2_ENST00000237364.5_Missense_Mutation_p.K329N	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	242					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGACATCAAAAGAACATGTTG	0.373000													10	25					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450763	114450763	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114450763A>G	ENST00000369563.3	+	3	934	c.488A>G	c.(487-489)cAc>cGc	p.H163R	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	163					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGCTGCCCACCAGATTGTC	0.458000								Other identified genes with known or suspected DNA repair function					5	108					0	0	1	0	0
TRBV24-1	0	broad.mit.edu	37	7	142364571	142364571	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142364571T>C	ENST00000390397.2	+	0	242																											TATTACTCCTTTGATGTCAAA	0.458000													14	26					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38813386	38813386	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38813386G>A	ENST00000359357.3	+	34	4485	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1628K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1411K					dynein, axonemal, heavy chain 8									p.E1411K(2)		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						GAAGGATATCGAAGCCAAGCT	0.388000													53	25					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307590	54307590	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54307590G>T	ENST00000545554.1	+	1	2490	c.2490G>T	c.(2488-2490)atG>atT	p.M830I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M830I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M830I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	830					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTCATTAATGGGGAGATTTC	0.443000													26	35					1.26454e-06	1.4261e-06	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921674	247921674	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247921674A>G	ENST00000408896.2	-	1	308	c.35T>C	c.(34-36)tTc>tCc	p.F12S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAAGGACGAATTCCCTGAC	0.408000													4	33					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808484	24808484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24808484C>A	ENST00000216274.5	-	3	426	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	70	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGCACGAATTCGTTATCCAGA	0.562000													37	63					1.47244e-24	2.06782e-24	1	1	0
GNLY	10578	broad.mit.edu	37	2	85924740	85924740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85924740G>A	ENST00000409696.3	+	5	604	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	GNLY_ENST00000524600.1_Missense_Mutation_p.V150M|GNLY_ENST00000263863.4_Missense_Mutation_p.V123M	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	123	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCAGGGCCTCGTGGCCGGAGA	0.567000													22	38					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26868837	26868837	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26868837G>T	ENST00000398145.2	-	5	961	c.345C>A	c.(343-345)ttC>ttA	p.F115L	HPS4_ENST00000398141.1_Missense_Mutation_p.F110L|HPS4_ENST00000402105.3_Missense_Mutation_p.F110L|HPS4_ENST00000336873.5_Missense_Mutation_p.F115L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	115					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AAAAATTAAAGAATCCAACTA	0.463000									Hermansky-Pudlak syndrome				43	78					1.23103e-26	1.74228e-26	1	1	0
USP9X	8239	broad.mit.edu	37	X	41055931	41055931	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41055931T>G	ENST00000324545.7	+	28	4806	c.4173T>G	c.(4171-4173)atT>atG	p.I1391M	USP9X_ENST00000378308.2_Missense_Mutation_p.I1391M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1391					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATAGTAATATTAATGTACCCA	0.328000													18	19					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211469846	211469846	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:211469846A>G	ENST00000233072.5	+	17	2053	c.1857A>G	c.(1855-1857)caA>caG	p.Q619Q	CPS1_ENST00000430249.2_Silent_p.Q625Q|CPS1_ENST00000451903.2_Silent_p.Q168Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	619	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGACCAACCAAATTCTGGTGG	0.398000													10	25					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55926970	55926970	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55926970G>T	ENST00000313447.1	-	1	823	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAAAACACAGAAGCCATTTT	0.393000													13	22					5.50884e-06	6.10489e-06	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132403475	132403475	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132403475G>A	ENST00000337331.5	-	24	3579	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.R1165W(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACGTCTCCGAATATCTAAA	0.388000													16	31					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184542494	184542494	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184542494A>C	ENST00000437079.3	+	2	245	c.74A>C	c.(73-75)aAg>aCg	p.K25T	VPS8_ENST00000436792.2_Missense_Mutation_p.K25T|VPS8_ENST00000424463.2_Missense_Mutation_p.K25T|VPS8_ENST00000446204.2_Missense_Mutation_p.K25T|VPS8_ENST00000287546.4_Missense_Mutation_p.K25T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	25							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGCTGAATAAGTCTTTCAAT	0.358000													8	44					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	28003889	28003889	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28003889G>A	ENST00000269033.3	-	7	633	c.482C>T	c.(481-483)tCg>tTg	p.S161L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S188L|SSH2_ENST00000324677.7_5'UTR	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	161					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTATCCGTCGATACACTGAA	0.368000													11	33					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73442306	73442306	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73442306G>A	ENST00000224721.6	+	17	1983	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	CDH23_ENST00000299366.7_Missense_Mutation_p.V700I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	655	Cadherin 6.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACAGCACCGTCCCTGTCAC	0.552000													5	23					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300262	21300262	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21300262T>G	ENST00000596143.1	+	5	1117	c.792T>G	c.(790-792)gcT>gcG	p.A264A	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGGTAAAGCTTTTAACCACC	0.373000													9	24					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294728	29294728	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29294728G>T	ENST00000331664.5	-	1	2399	c.2400C>A	c.(2398-2400)ccC>ccA	p.P800P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	800					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TAGGTGCTAAGGGCTTCCAGC	0.542000													37	71					4.65686e-17	6.22576e-17	1	1	0
RNF168	165918	broad.mit.edu	37	3	196199276	196199276	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196199276G>A	ENST00000318037.3	-	6	1724	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	377					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CAGTAGGCACGACTCTTCATT	0.443000													39	64					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50450145	50450145	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50450145G>T	ENST00000442544.2	+	4	1382	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	DCC_ENST00000412726.1_Missense_Mutation_p.D104Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	256	Ig-like C2-type 3.				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)		TGAAGGAAAAGATGCTGTCCT	0.423000													18	21					0.0332995	0.0338902	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56538862	56538862	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56538862C>T	ENST00000390649.3	+	7	1263	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	421	NACHT.					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)		AGTCAGAGGTCGTGTCTCCCC	0.547000													17	22					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793762	124793762	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124793762G>A	ENST00000298251.4	-	3	977	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	191	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAGCATTCTCGAGTCATTGAG	0.582000													18	28					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240330	126240330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240330G>T	ENST00000394329.3	+	1	2777	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	922	Cadherin 9.				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						GGACCCTGATGAAGGTGTCAA	0.473000													12	31					5.50884e-06	6.10489e-06	1	1	0
UXT	8409	broad.mit.edu	37	X	47517203	47517203	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47517203C>A	ENST00000335890.2	-	2	347	c.194G>T	c.(193-195)aGa>aTa	p.R65I	UXT_ENST00000333119.3_Missense_Mutation_p.R53I	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	53					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AATGACATTTCTCAGTTGAAG	0.488000													6	36					0.00116845	0.00122532	1	1	0
TEX30	93081	broad.mit.edu	37	13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103419691C>A	ENST00000376019.1	-	3	1149	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376032.4_Nonsense_Mutation_p.E146*|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*			Q5JUR7	CM027_HUMAN	testis expressed 30	146								p.E105*(2)|p.E146*(2)		lung(1)|urinary_tract(1)	2						AAGAGGTCTTCATCTCTGAGT	0.408000													5	56					0.014758	0.015099	1	1	0
ZNF180	7733	broad.mit.edu	37	19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448000													17	40					2.94398e-08	3.45884e-08	1	1	0
FMN2	56776	broad.mit.edu	37	1	240341335	240341335	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240341335G>A	ENST00000319653.9	+	3	2127	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	633					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.D776N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAACCTCCCGATGAGGAACA	0.483000													6	51					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406445	38406445	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38406445A>C	ENST00000351773.3	+	8	1196	c.366A>C	c.(364-366)aaA>aaC	p.K122N	ZNF37A_ENST00000361085.4_Missense_Mutation_p.K122N	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATATAATAAAAATGGGAACA	0.328000													35	82					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691338	90691338	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90691338G>T	ENST00000312600.3	+	2	976	c.762G>T	c.(760-762)aaG>aaT	p.K254N	PABPC5_ENST00000373105.1_Missense_Mutation_p.K90N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	254	RRM 3.					cytoplasm	nucleotide binding|RNA binding	p.K254K(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCCCAAAAGGCTGTGCTAG	0.463000													10	73					2.80697e-09	3.36108e-09	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75039084	75039084	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:75039084C>A	ENST00000326665.5	-	14	2528	c.2310G>T	c.(2308-2310)gaG>gaT	p.E770D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	770	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCTTTCTTCTCCAGTGTAT	0.463000													5	78					1.23904e-05	1.36503e-05	1	1	0
CHODL	140578	broad.mit.edu	37	21	19628962	19628962	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19628962G>T	ENST00000299295.2	+	2	607	c.216G>T	c.(214-216)gaG>gaT	p.E72D	CHODL_ENST00000400131.1_Missense_Mutation_p.E31D|CHODL_ENST00000400135.1_Missense_Mutation_p.E31D|CHODL_ENST00000543733.1_Missense_Mutation_p.E53D|CHODL_ENST00000338326.3_Missense_Mutation_p.E31D|CHODL_ENST00000400127.1_Missense_Mutation_p.E31D|CHODL_ENST00000400128.1_Missense_Mutation_p.E31D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	72	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TCAGCCTTGAGAATGAAGCAG	0.502000													11	84					0.000673444	0.000709932	1	1	0
ROR1	4919	broad.mit.edu	37	1	64605808	64605808	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:64605808T>C	ENST00000371079.1	+	6	1002	c.627T>C	c.(625-627)atT>atC	p.I209I	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Silent_p.I209I|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	209	FZ.				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						TCACTATGATTGGCACTTCCA	0.438000													14	22					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81279168	81279168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81279168C>T	ENST00000425577.2	+	2	373	c.76C>T	c.(76-78)Cga>Tga	p.R26*	BCMO1_ENST00000258168.2_Silent_p.F51F|BCMO1_ENST00000564552.1_Silent_p.F51F			Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	0					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATTGGTTCGACGGCCTTG	0.577000													34	86					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110155430	110155430	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110155430C>A	ENST00000351050.3	-	1	249	c.63G>T	c.(61-63)aaG>aaT	p.K21N		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	21					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCTGCAGCTTCTTTTCTAGCT	0.527000													42	70					1.67305e-13	2.14637e-13	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1042699	1042699	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1042699A>G	ENST00000435683.2	+	1	39	c.39A>G	c.(37-39)ctA>ctG	p.L13L	ABCA7_ENST00000263094.6_Intron|ABCA7_ENST00000433129.1_Intron			Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	0					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACCCCTAGTGAGTGTTC	0.552000													9	49					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46555824	46555824	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46555824A>C	ENST00000275016.2	-	9	1311	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	370					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGCAGCCAAAATGGAGACAAC	0.289000													16	29					0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3517921	3517921	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3517921G>A	ENST00000500728.2	-	6	902	c.756C>T	c.(754-756)ttC>ttT	p.F252F	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	252	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGGGCTCCTCGAACTCTGCAG	0.657000													3	4					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24261807	24261807	+	Silent	SNP	G	G	A	rs151169389	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24261807G>A	ENST00000295148.4	-	2	615	c.558C>T	c.(556-558)agC>agT	p.S186S	C2orf44_ENST00000406895.3_Silent_p.S186S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	186							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGAGCGCTGTCCCAAA	0.557000			T	ALK	NSCLC								10	37					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402359	248402359	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248402359T>G	ENST00000306687.1	+	1	129	c.129T>G	c.(127-129)atT>atG	p.I43M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TGGAAAATATTTCCATGGTTC	0.483000													43	83					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1407680	1407680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1407680C>A	ENST00000381524.3	+	6	558	c.372C>A	c.(370-372)ttC>ttA	p.F124L	CSF2RA_ENST00000417535.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F124L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F124L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	124						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCAGAATTTCTCCTGTTTCA	0.488000													64	138					6.26901e-30	8.94914e-30	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29659799	29659799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29659799G>A	ENST00000256062.5	-	18	2778	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.R901*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.R939*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.R877*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	877						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCCTTTTCTCGAACTTCTTGT	0.453000													37	74					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309997	178309997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178309997G>T	ENST00000322434.3	+	5	770	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTGCTAAAGAAAAAACTCC	0.299000													9	22					0.000442599	0.00046913	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16892261	16892261	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16892261G>T	ENST00000430580.2	-	27	3818	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	977	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCCTGCAAGACTTCAGGCT	0.498000													8	740					7.48243e-07	8.49459e-07	1	1	0
SEPT2	4735	broad.mit.edu	37	2	242274562	242274562	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242274562C>T	ENST00000391973.2	+	4	680	c.152C>T	c.(151-153)tCg>tTg	p.S51L	SEPT2_ENST00000391971.2_Missense_Mutation_p.S51L|SEPT2_ENST00000401990.1_Missense_Mutation_p.S51L|SEPT2_ENST00000360051.3_Missense_Mutation_p.S51L|SEPT2_ENST00000402092.2_Missense_Mutation_p.S51L|SEPT2_ENST00000407971.1_Missense_Mutation_p.S11L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	51					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CTAGGAAAATCGACTCTCATA	0.363000													8	8					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906274	129906274	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129906274T>C	ENST00000368654.3	-	13	4205	c.3830A>G	c.(3829-3831)gAt>gGt	p.D1277G	MKI67_ENST00000368653.3_Missense_Mutation_p.D917G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1277	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCCTCTACATCTGCTTTCCT	0.488000													61	139					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407418	57407418	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57407418T>G	ENST00000374900.4	+	7	1072	c.952T>G	c.(952-954)Tta>Gta	p.L318V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	318						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGCTCATTTTTAATGTCCAA	0.294000										HNSCC(52;0.14)			34	47					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	79					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29631559	29631559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29631559G>T	ENST00000278882.3	+	7	735	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E119*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGCTGAAAAAGAAACCAAGAA	0.333000													11	28					3.07112e-06	3.42433e-06	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124371784	124371784	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124371784G>A	ENST00000409039.3	+	51	8590	c.8565G>A	c.(8563-8565)gcG>gcA	p.A2855A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2855	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACAAAGCGATGATCTTTC	0.542000													8	26					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17740182	17740182	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17740182G>T	ENST00000375436.4	-	9	1245	c.1058C>A	c.(1057-1059)tCc>tAc	p.S353Y	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.S353Y	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	353					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AAAGCCCCAGGAGAAGACTCG	0.577000													10	121					4.68919e-08	5.48405e-08	1	1	0
SIRT1	23411	broad.mit.edu	37	10	69672420	69672420	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69672420G>A	ENST00000212015.6	+	8	1600	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	516					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	p.R516Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAACCTCCACGAACACAAAAA	0.388000													25	48					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537000													20	25					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825183	196825183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196825183C>A	ENST00000312428.6	-	18	2792	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	898	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAGAATATTCTTTGCTAGCT	0.393000													33	77					4.74835e-14	6.14782e-14	1	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90578240	90578240	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90578240C>A	ENST00000551025.1	+	0	6668							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACACAAGATGCTTCAAGTGAG	0.393000													11	21					1.58986e-06	1.78832e-06	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71425104	71425104	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425104C>A	ENST00000373657.1	-	3	3746	c.3144G>T	c.(3142-3144)gaG>gaT	p.E1048D	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.E1171D			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1171					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)					CAAGAGAGGTCTCTTGAGCTA	0.488000													34	41					4.3181e-19	5.86915e-19	1	1	0
AGO2	27161	broad.mit.edu	37	8	141545600	141545600	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:141545600G>A	ENST00000220592.5	-	17	2350	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GGTAGAAGTCGAACTCGGTGG	0.562000													7	88					0	0	1	0	0
CACUL1	143384	broad.mit.edu	37	10	120450802	120450802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120450802C>A	ENST00000369151.3	-	7	1483	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		TGTATAAGTTCTCTTTGAAAT	0.388000													51	122					9.22156e-22	1.27685e-21	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215751415	215751415	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215751415C>T	ENST00000259154.4	+	6	682	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	130						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGGTTACTTGCCCCCACCAGG	0.343000													8	60					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55144057	55144057	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55144057C>T	ENST00000396331.1	+	7	1161	c.804C>T	c.(802-804)ctC>ctT	p.L268L	LILRB1_ENST00000396321.2_Silent_p.L268L|LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000418536.2_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000396332.4_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	268	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTTCAGCTCGCTGGCGCAC	0.612000										HNSCC(37;0.09)			36	77					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100403957	100403957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100403957C>A	ENST00000281806.2	-	2	381	c.67G>T	c.(67-69)Gag>Tag	p.E23*	MCHR2_ENST00000369212.1_Nonsense_Mutation_p.E23*|MCHR2_ENST00000445970.1_Nonsense_Mutation_p.E23*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	23						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAAGCAAACTCTTTATTCCAG	0.423000													31	69					3.11337e-16	4.1367e-16	1	1	0
CDH10	1008	broad.mit.edu	37	5	24535873	24535873	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24535873G>A	ENST00000264463.4	-	4	1092	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S195R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACTCTGGCGCTGTTCCCAT	0.453000										HNSCC(23;0.051)			16	24					0	0	1	0	0
GPR88	54112	broad.mit.edu	37	1	101004646	101004646	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101004646G>A	ENST00000315033.4	+	2	563	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TTCGGGCCTGGCCATCGGGGG	0.657000													5	12					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022529	112022529	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:112022529G>A	ENST00000371959.3	-	10	2852	c.2853C>T	c.(2851-2853)gcC>gcT	p.A951A	AMOT_ENST00000371962.1_Silent_p.A719A|AMOT_ENST00000524145.1_Silent_p.A951A|AMOT_ENST00000304758.1_Silent_p.A542A	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	951					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						aggcaacagaggcagcagctg	0.637000													3	12					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67329205	67329205	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67329205A>G	ENST00000304372.5	-	9	1407	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	451	BTB 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAGTCTCAGGAAGTTGAGAAT	0.478000													19	23					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71495556	71495556	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:71495556G>T	ENST00000521425.1	-	10	1672	c.636C>A	c.(634-636)atC>atA	p.I212I	TRAM1_ENST00000262213.2_Silent_p.I298I|TRAM1_ENST00000536748.1_Silent_p.I267I			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	298	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CCAGAACAGCGATTCTAAGAA	0.348000													8	16					0.000274275	0.000292037	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144879545	144879545	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:144879545C>T	ENST00000369359.4	-	30	4351	c.4313G>A	c.(4312-4314)aGc>aAc	p.S1438N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1258N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1438N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1302					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCTTGAGGCTGTTGTGCTC	0.527000			T	PDGFRB	MPD								10	86					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108004065	108004065	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108004065G>A	ENST00000280758.5	+	5	2270	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R118Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.R581Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	581						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACTGTGGACGAACAGACCTG	0.582000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	85					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10441078	10441078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10441078G>A	ENST00000245503.5	-	15	1875	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	MYH2_ENST00000532183.1_Silent_p.F497F|MYH2_ENST00000397183.2_Silent_p.F497F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCCAGCACGAACATGTGGT	0.478000													52	106					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134073715	134073715	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134073715C>T	ENST00000534548.2	-	11	1366	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	434					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTTCTGATGCTCCAAGGAGA	0.468000													17	80					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547360	165547360	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:165547360C>T	ENST00000264381.3	-	2	1628	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	488			E -> K (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAAATTTCCTCGGCTTTTGTG	0.403000													27	43					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114282503	114282503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:114282503G>T	ENST00000393500.3	+	13	1409	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.E272*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E289*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E296*|FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E297*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E251*			O15409	FOXP2_HUMAN	forkhead box P2	272	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTTATGGAAAGAAGTGACTGG	0.408000													23	32					8.04996e-18	1.08523e-17	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000													28	62					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754065	32754065	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32754065A>C	ENST00000249007.4	+	1	212	c.7A>C	c.(7-9)Agg>Cgg	p.R3R	RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	3							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATGCATGAAAAGGTTGTCACT	0.483000													29	64					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874612	36874612	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36874612T>G	ENST00000429976.2	-	21	6577	c.6330A>C	c.(6328-6330)aaA>aaC	p.K2110N	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1560N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1560N			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2110					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						AAAAATGATCTTTTGTTTTTT	0.418000													4	8					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	736808	736808	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:736808C>T	ENST00000584307.1	-	10	1461	c.1291_splice	c.e10+1	p.G431_splice	RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000577961.1_Splice_Site_p.G436_splice|YES1_ENST00000314574.4_Splice_Site_p.G431_splice			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	431	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GTAATTTTACCTTGTCTTGCT	0.343000													5	27					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74539002	74539002	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74539002A>C	ENST00000553458.1	-	4	350	c.252T>G	c.(250-252)gcT>gcG	p.A84A	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.A84A|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	84						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTTGCAGGAAGCAATGGCTG	0.483000													26	44					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968311	69968311	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69968311A>T	ENST00000299293.2	+	10	1613	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	FRS2_ENST00000397997.2_Missense_Mutation_p.E368V|FRS2_ENST00000550389.1_Missense_Mutation_p.E368V|FRS2_ENST00000549921.1_Missense_Mutation_p.E368V	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	368					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGTAGGGATGAAGATGACAAT	0.383000													35	56					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92462505	92462505	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92462505C>T	ENST00000265734.4	-	2	544	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	CDK6_ENST00000424848.2_Missense_Mutation_p.V45M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	45	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGCACCCGCACGCGCTTCAAC	0.662000			T	MLLT10	ALL								6	13					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954392	33954392	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33954392T>G	ENST00000389232.4	+	35	4731	c.4661T>G	c.(4660-4662)cTg>cGg	p.L1554R	RYR3_ENST00000415757.3_Missense_Mutation_p.L1554R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1554	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGAGGACCTGATGCGGTTC	0.612000													6	11					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112476055	112476055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112476055G>T	ENST00000230538.7	-	16	2451	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.S678Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.S678Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	685	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATATTTACTAGACTCTGCCTT	0.383000													17	38					5.01169e-05	5.45927e-05	1	1	0
ZNF511	118472	broad.mit.edu	37	10	135125331	135125331	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135125331G>A	ENST00000359035.3	+	5	669	c.666G>A	c.(664-666)cgG>cgA	p.R222R	ZNF511_ENST00000361518.5_Silent_p.R222R|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Silent_p.R157R			Q8NB15	ZN511_HUMAN	zinc finger protein 511	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		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)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTGAGAGGCGGATCTACAGAC	0.597000													32	84					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552454	21552454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:21552454G>A	ENST00000281523.2	-	4	856	c.338C>T	c.(337-339)gCc>gTc	p.A113V	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	113						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTTTCATGGCTTCCAGTGC	0.463000													31	53					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57009049	57009049	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57009049G>A	ENST00000200676.3	+	10	1097	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CETP_ENST00000379780.2_Missense_Mutation_p.E263K|CETP_ENST00000566128.1_Missense_Mutation_p.E258K	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	323					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CACCAACCAGGAAATCTTCCA	0.527000													24	32					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49195948	49195948	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:49195948G>A	ENST00000406846.2	-	9	862	c.743C>T	c.(742-744)tCg>tTg	p.S248L	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.S222L|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	248					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.S248*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTTGTAAGTCGACCTGGCCCT	0.443000									Gonadal Dysgenesis, 46 XX				10	41					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37130011	37130011	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37130011A>C	ENST00000588268.1	-	6	1463	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	ZNF461_ENST00000360357.4_Silent_p.P389P|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GACATTCATAAGGTTTCTTGC	0.418000													32	59					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120139927	120139927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120139927C>T	ENST00000260264.4	+	3	146	c.112C>T	c.(112-114)Cga>Tga	p.R38*	POU2F3_ENST00000543440.2_Nonsense_Mutation_p.R36*	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	36					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGGAAATGATCGAAATGGCCT	0.378000													5	22					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104478596	104478596	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:104478596A>C	ENST00000372582.1	+	4	1207	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K151Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	151	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTATTTAGAAAAATCTGAAGT	0.418000													31	59					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475335	32475335	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32475335G>T	ENST00000404025.2	-	5	2086	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	NLRC4_ENST00000360906.5_Missense_Mutation_p.S533Y|NLRC4_ENST00000402280.1_Missense_Mutation_p.S533Y|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	533					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTGCAAAGATTCCTGTCT	0.463000													26	44					8.24728e-16	1.09065e-15	1	1	0
STK31	56164	broad.mit.edu	37	7	23811882	23811882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23811882G>T	ENST00000354639.3	+	15	2345	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N	STK31_ENST00000428484.1_Missense_Mutation_p.K627N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K650N|STK31_ENST00000355870.3_Missense_Mutation_p.K650N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	650							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGTTGAAAAGAGTAATTTGG	0.323000													21	32					8.10497e-08	9.43176e-08	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49621311	49621311	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:49621311G>T	ENST00000371571.4	-	3	1092	c.807C>A	c.(805-807)ttC>ttA	p.F269L	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	269						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTCCACGATGAAGACGTTGT	0.657000													9	14					2.17888e-05	2.39107e-05	1	1	0
HSP90B1	7184	broad.mit.edu	37	12	104335423	104335423	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104335423T>C	ENST00000299767.5	+	10	1429	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	416					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTGCGCCGTGTATTCATCACA	0.378000													24	49					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428651	57428651	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:57428651T>G	ENST00000371100.4	+	1	883	c.331T>G	c.(331-333)Ttg>Gtg	p.L111V	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.L111V|GNAS_ENST00000371099.2_Missense_Mutation_p.L111V|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.A47A|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAGCCCAGCTTGGGAGGCTT	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			13	33					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379382	113379382	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113379382T>C	ENST00000316407.4	-	7	1557	c.1147A>G	c.(1147-1149)Acc>Gcc	p.T383A	KIAA2018_ENST00000478658.1_Missense_Mutation_p.T383A|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	383					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						ATAGGAATGGTGGCCTTCCCT	0.443000													4	60					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75882241	75882241	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75882241A>C	ENST00000393909.2	+	6	734	c.709A>C	c.(709-711)Aat>Cat	p.N237H	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.N237H	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	237					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						GGAACGTCCAAATTTTAATAT	0.323000													18	20					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54931420	54931420	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54931420A>C	ENST00000539768.1	-	11	1232	c.1233T>G	c.(1231-1233)gtT>gtG	p.V411V	SLC38A9_ENST00000396865.2_Silent_p.V411V|SLC38A9_ENST00000416547.2_Silent_p.V287V|SLC38A9_ENST00000318672.3_Silent_p.V411V|SLC38A9_ENST00000512595.1_Silent_p.V348V|SLC38A9_ENST00000515629.1_Silent_p.V348V			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	411					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGAAGCAAAAACCAGGACTC	0.388000													23	33					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162902573	162902573	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162902573A>C	ENST00000416990.2	+	11	1315	c.818A>C	c.(817-819)aAa>aCa	p.K273T	HMMR_ENST00000432118.2_Missense_Mutation_p.K301T|HMMR_ENST00000358715.3_Missense_Mutation_p.K387T|HMMR_ENST00000393915.4_Missense_Mutation_p.K388T|HMMR_ENST00000353866.3_Missense_Mutation_p.K372T			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	387						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAGCTTGATAAATTACAGCAA	0.383000													14	47					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169834	36169834	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:36169834A>G	ENST00000335119.2	+	1	446	c.335A>G	c.(334-336)aAc>aGc	p.N112S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	112	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CAGTATTTCAACACACCACGC	0.527000													25	44					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381241	109381241	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109381241G>A	ENST00000283195.6	+	20	4372	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1416					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCCAAAGAAAGAAGGTCACTG	0.398000													26	59					0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5416147	5416147	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5416147C>T	ENST00000380433.3	+	2	692	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	155						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						CACCTGATGGCGCAAATTGGG	0.677000													7	24					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44803550	44803550	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44803550G>A	ENST00000372262.3	-	11	2482	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	CDH22_ENST00000537909.1_Silent_p.F694F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	694					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGAGCTCGCCGAAGTCGTAGA	0.731000													3	17					0	0	1	0	0
RPL34	6164	broad.mit.edu	37	4	109543322	109543322	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:109543322A>C	ENST00000394668.2	+	3	193	c.127A>C	c.(127-129)Aaa>Caa	p.K43Q	RPL34_ENST00000506397.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394667.3_Missense_Mutation_p.K43Q|RPL34_ENST00000502534.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394665.1_Missense_Mutation_p.K43Q	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	43					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GAAAGCACCAAAATCTGCATG	0.448000													15	29					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108986	151108986	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151108986C>A	ENST00000341697.3	-	12	2735	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	348	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTCTGCTCCTTGAACTTGC	0.567000													77	145					5.02462e-34	7.21672e-34	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043431	56043431	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56043431T>G	ENST00000313033.2	+	1	403	c.317T>G	c.(316-318)tTt>tGt	p.F106C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTTCATTTCTTGGATGT	0.368000													55	53					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147863828	147863828	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147863828G>T	ENST00000360693.3	-	7	1329	c.1191C>A	c.(1189-1191)gtC>gtA	p.V397V	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000517929.1_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	gttaccccaagacaggcttcc	0.408000													10	14					1.08611e-07	1.25818e-07	1	1	0
SENP5	205564	broad.mit.edu	37	3	196650379	196650379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196650379C>A	ENST00000323460.5	+	7	2228	c.1979C>A	c.(1978-1980)tCa>tAa	p.S660*	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	660	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGAATTATTTCATTTTATGAT	0.333000													12	40					2.27111e-07	2.60515e-07	1	1	0
UNC79	57578	broad.mit.edu	37	14	94121601	94121601	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94121601T>G	ENST00000553484.1	+	40	6641	c.6487T>G	c.(6487-6489)Tta>Gta	p.L2163V	UNC79_ENST00000555664.1_Missense_Mutation_p.L2102V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1964V|UNC79_ENST00000393151.2_Missense_Mutation_p.L2141V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2141						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						CAAAAAGAATTTACCAGCAGG	0.418000													34	41					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004214	71004214	+	Nonsense_Mutation	SNP	G	G	A	rs147237457		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71004214G>A	ENST00000357250.6	-	5	510	c.352C>T	c.(352-354)Cga>Tga	p.R118*	COL9A1_ENST00000370496.3_Nonsense_Mutation_p.R118*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	118	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGTCATTCGAAACGTCGTC	0.403000													34	53					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60741464	60741464	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60741464G>T	ENST00000261520.4	-	10	1936	c.1702C>A	c.(1702-1704)Ctc>Atc	p.L568I	NARG2_ENST00000439632.1_Missense_Mutation_p.L431I	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	568						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTGCTGCAGAGAACTGTATCT	0.368000													26	37					6.32553e-13	8.04352e-13	1	1	0
WNT2B	7482	broad.mit.edu	37	1	113057506	113057506	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113057506G>A	ENST00000369684.4	+	2	678	c.193G>A	c.(193-195)Gca>Aca	p.A65T	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.4_Missense_Mutation_p.A46T|WNT2B_ENST00000256640.5_5'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	65					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACATTGGGGCACTGGGGGC	0.562000													38	59					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117817047	117817047	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117817047T>G	ENST00000276204.6	+	52	6043	c.5969T>G	c.(5968-5970)tTt>tGt	p.F1990C	DOCK11_ENST00000276202.7_Missense_Mutation_p.F1990C			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1990	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACAGGAAATTTATACAAGCA	0.363000													53	74					0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98237781	98237781	+	Missense_Mutation	SNP	C	C	A	rs141592597	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98237781C>A	ENST00000503004.1	-	3	1230	c.351G>T	c.(349-351)gaG>gaT	p.E117D	CLDND1_ENST00000510545.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394180.2_Missense_Mutation_p.E117D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E117D|CLDND1_ENST00000502288.1_Missense_Mutation_p.E22D|CLDND1_ENST00000511081.1_Missense_Mutation_p.E22D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000437922.1_Missense_Mutation_p.E140D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E117D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E117D|CLDND1_ENST00000507874.1_Missense_Mutation_p.E117D			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	117						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CAACAAATTTCTCCATGAACT	0.388000													5	17					0.000602214	0.000636035	1	1	0
OXCT1	5019	broad.mit.edu	37	5	41794170	41794170	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41794170C>T	ENST00000196371.5	-	13	1343	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_5'UTR|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D209N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	395					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ATTGTCAGATCGACGTGTCCA	0.398000													9	81					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678387	130678387	+	Missense_Mutation	SNP	C	C	A	rs144245032	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130678387C>A	ENST00000338616.3	+	1	438	c.340C>A	c.(340-342)Cta>Ata	p.L114I		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGAGTGCCTCCTACTGGCTGC	0.522000													38	83					1.90571e-15	2.51191e-15	1	1	0
FAM199X	139231	broad.mit.edu	37	X	103411476	103411476	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103411476G>A	ENST00000493442.1	+	1	176	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	4										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CATGTCCGACGAGGCCTCGGC	0.692000													10	15					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856726	90856726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90856726T>G	ENST00000394980.1	+	7	2214	c.1895T>G	c.(1894-1896)aTg>aGg	p.M632R	MMRN1_ENST00000508372.1_Missense_Mutation_p.M374R|MMRN1_ENST00000264790.2_Missense_Mutation_p.M632R|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	632					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACAATAAGATGGACAAAATG	0.358000													34	44					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223513464	223513464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:223513464C>A	ENST00000281828.6	-	2	372	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	37					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CATACAATTTCATCAAGCTCC	0.299000													21	55					4.30721e-22	5.97715e-22	1	1	0
PHIP	55023	broad.mit.edu	37	6	79657392	79657392	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79657392A>G	ENST00000275034.4	-	36	4321	c.4154T>C	c.(4153-4155)gTc>gCc	p.V1385A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1385	Bromo 2.				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)		AATAAGTCTGACATCTTTACA	0.343000													10	34					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816907	101816907	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101816907T>G	ENST00000370418.3	-	6	1125	c.874A>C	c.(874-876)Atg>Ctg	p.M292L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	292	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AAGTCTTGCATTCCTAAGGGA	0.458000													61	125					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6701195	6701195	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6701195T>G	ENST00000309577.6	-	20	3140	c.2977A>C	c.(2977-2979)Aat>Cat	p.N993H	CHD4_ENST00000544040.1_Missense_Mutation_p.N986H|CHD4_ENST00000544484.1_Missense_Mutation_p.N990H|CHD4_ENST00000357008.2_Missense_Mutation_p.N993H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	993					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCTTCAAAATTTCGAGTGAGG	0.458000													36	66					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949626	89949626	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89949626A>G	ENST00000405460.2	+	20	4331	c.4235A>G	c.(4234-4236)aAg>aGg	p.K1412R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1412					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)		TACATTGCCAAGACAACAGTC	0.378000													3	16					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68622924	68622924	+	Silent	SNP	G	G	A	rs149225658	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68622924G>A	ENST00000234313.7	+	9	1208	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	343	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAGCCATCCAGATGGCCTCCC	0.537000													16	41					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100418013	100418013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100418013G>A	ENST00000375147.3	+	13	1521	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	422					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATCATCTAAGTAACTTCCAG	0.343000													5	23					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69171469	69171469	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:69171469G>T	ENST00000420581.2	-	1	248	c.69C>A	c.(67-69)atC>atA	p.I23I	LMOD3_ENST00000489031.1_Silent_p.I23I|LMOD3_ENST00000475434.1_Silent_p.I23I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	23						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AGTTGGCCAAGATTTCATCTT	0.403000													3	11					0.004672	0.00483628	1	1	0
IQCF1	132141	broad.mit.edu	37	3	51928930	51928930	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51928930A>G	ENST00000310914.5	-	4	656	c.594T>C	c.(592-594)tgT>tgC	p.C198C		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	198										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGGGAATACACTCTGTCA	0.498000													33	55					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768826	88768826	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88768826G>T	ENST00000444431.1	+	0	3426				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGAAGAAGAAGAAAAGTTTAT	0.493000													65	122					4.09106e-26	5.77846e-26	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5922560	5922560	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5922560T>G	ENST00000399933.3	-	8	3435	c.3436A>C	c.(3436-3438)Aat>Cat	p.N1146H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1116H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1146										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAAGAAGAATTTATATTTGTT	0.353000													14	53					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294612	4294612	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4294612A>G	ENST00000301272.2	-	4	559	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.F52L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.F172L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	172						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCCAGAACCAGGCACCC	0.617000													117	229					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47649561	47649561	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47649561T>C	ENST00000371917.4	+	39	5183	c.5181_splice	c.e39-1	p.F1728_splice		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1728					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACCTCAAGTTCAAAGCACAT	0.403000													16	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089181	9089181	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9089181C>A	ENST00000397910.4	-	1	2837	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	878	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						AAACAGAAGTCTCAGGTTGAG	0.478000													11	30					1.11149e-13	1.42822e-13	1	1	0
CDC16	8881	broad.mit.edu	37	13	115030682	115030682	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:115030682G>A	ENST00000360383.3	+	17	1768	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000375308.1_Missense_Mutation_p.E430K|CDC16_ENST00000356221.3_Missense_Mutation_p.E524K|CDC16_ENST00000375312.3_Missense_Mutation_p.E379K|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.E523K	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.E523K(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCATTGCATCGAAATGTACAT	0.333000													35	64					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46933497	46933497	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46933497T>G	ENST00000258947.3	+	10	1057	c.956T>G	c.(955-957)aTt>aGt	p.I319S	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I340S|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I247S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I343S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I277S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	319					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGAACGAAATTATATGTAAT	0.378000													18	33					0	0	1	0	0
GDF11	0	broad.mit.edu	37	12	56143605	56143605	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56143605A>G	ENST00000257868.5	+	3	1200	c.1163A>G	c.(1162-1164)aAg>aGg	p.K388R		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	388					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TTCAATGACAAGCAGCAGATT	0.557000													20	182					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521451	39521451	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39521451G>A	ENST00000251646.3	-	5	901	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	284	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.597000													53	103					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411964	105411964	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105411964T>C	ENST00000333244.5	-	7	9943	c.9824A>G	c.(9823-9825)gAg>gGg	p.E3275G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3275						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)			GACGTCCACCTCCATGCTGGG	0.627000													98	176					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16878296	16878296	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16878296A>G	ENST00000377833.4	-	63	10183	c.10118T>C	c.(10117-10119)gTc>gCc	p.V3373A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3373	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGAAAATGACCATTGCAGT	0.398000													15	33					0	0	1	0	0
GPR85	0	broad.mit.edu	37	7	112724250	112724250	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112724250T>C	ENST00000501255.2	-	3	1150	c.527A>G	c.(526-528)cAc>cGc	p.H176R	GPR85_ENST00000424100.1_Missense_Mutation_p.H176R|GPR85_ENST00000297146.2_Missense_Mutation_p.H176R|GPR85_ENST00000449591.1_Missense_Mutation_p.H176R	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GAAGGAGCGGTGTTGGAAGGT	0.483000													20	52					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354209	31354209	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31354209G>A	ENST00000382493.4	+	3	348	c.248G>A	c.(247-249)aGt>aAt	p.S83N	COCH_ENST00000216361.4_Intron|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000396618.3_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron			O43405	COCH_HUMAN	cochlin	244	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAAAGAATGAGTAGCACTACC	0.383000													39	69					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370783	126370783	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370783G>A	ENST00000394329.3	+	9	8625	c.8612G>A	c.(8611-8613)aGa>aAa	p.R2871K	FAT4_ENST00000335110.5_Missense_Mutation_p.R1169K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2871	Cadherin 27.				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						AATGCTCCAAGATTTAGCAGA	0.403000													37	40					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437706	120437706	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120437706T>C	ENST00000369400.1	-	1	1412	c.1254A>G	c.(1252-1254)acA>acG	p.T418T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	418	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GACACTCCTCTGTGGAACCAC	0.433000													9	134					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	C	T	rs146151355		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45633577C>T	ENST00000267430.5	+	10	1682	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	24					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166020945	166020945	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166020945G>A	ENST00000360093.3	-	6	1050	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	187						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)	CATGGATCACGAAGAAACGTA	0.373000													12	33					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153355	5153355	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5153355C>T	ENST00000307388.1	-	1	517	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R173Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACTGTAGTTCGATAGTGTTT	0.448000													34	76					0	0	1	0	0
RASL11A	387496	broad.mit.edu	37	13	27847485	27847485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:27847485G>T	ENST00000241463.4	+	4	1201	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	195	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TCTCTGCAAAGAAGTGAGCAA	0.517000													22	37					2.37509e-13	3.04217e-13	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47674319	47674319	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47674319C>T	ENST00000397708.1	-	20	4377	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375K|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1375					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACAACTCTCTGGGGACTGC	0.612000													22	50					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127726997	127726997	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127726997T>C	ENST00000354725.3	+	21	2506	c.2312T>C	c.(2311-2313)gTc>gCc	p.V771A		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	771	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAGAGAGAGGTCCTGCCATCC	0.617000													8	81					0	0	1	0	0
H1FX	8971	broad.mit.edu	37	3	129034193	129034193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129034193T>G	ENST00000333762.4	-	1	927	c.553A>C	c.(553-555)Aag>Cag	p.K185Q		NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	185					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						TTCTTGGCCTTGCCGCCTTTG	0.706000													11	26					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247719762	247719762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247719762G>T	ENST00000366488.4	+	2	187	c.83G>T	c.(82-84)aGa>aTa	p.R28I	GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron	NM_145278.3	NP_660321.1			germinal center-associated, signaling and motility-like																		GATGAGGAAAGAAAACGGTAA	0.383000													8	22					5.18039e-06	5.75679e-06	1	1	0
SFR1	119392	broad.mit.edu	37	10	105882653	105882653	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105882653T>C	ENST00000336358.5	+	1	649	c.130T>C	c.(130-132)Tat>Cat	p.Y44H	SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CAATACAATATATTATTTGAT	0.289000													6	14					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14172445	14172445	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14172445C>T	ENST00000306077.4	+	3	540	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	96						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGGCGCCTTACGGACATCCAA	0.582000													12	66					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56929309	56929309	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56929309T>G	ENST00000244040.3	+	6	756	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	159					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AAATGAACTCTTTATAGAAAT	0.393000													10	16					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40899972	40899972	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:40899972T>C	ENST00000309930.5	+	15	1334	c.1310T>C	c.(1309-1311)cTc>cCc	p.L437P	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.L363P|C7orf10_ENST00000335693.4_Missense_Mutation_p.L411P	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	411							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCCCGCTGCTCGGGCAGCAC	0.567000													43	96					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193119493	193119493	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193119493A>C	ENST00000367435.3	+	9	1072	c.888A>C	c.(886-888)gaA>gaC	p.E296D		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	296					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGATCAGGAAAGATTCAAAG	0.383000													10	26					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932179	79932179	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932179A>G	ENST00000373275.4	-	41	5554	c.5338T>C	c.(5338-5340)Tcc>Ccc	p.S1780P		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1780										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCTGATCTGGATGTACCAAGA	0.348000													18	22					0	0	1	0	0
ZNF271	0	broad.mit.edu	37	18	32886813	32886813	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32886813C>A	ENST00000399070.3	+	0	1207					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						TCAGAGGATTCATACTGGAGA	0.398000													13	19					0.000151284	0.00016287	1	1	0
ABCD2	225	broad.mit.edu	37	12	40010816	40010816	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40010816A>C	ENST00000308666.3	-	2	1229	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	365	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGTTGCAGTGATAATAGGTAT	0.338000													31	48					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328028	88328028	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88328028C>T	ENST00000325089.6	+	2	604	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	129						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATGGGCTACGGGGTTTGAG	0.448000													45	78					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49803104	49803104	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:49803104A>G	ENST00000335847.4	-	8	776	c.675T>C	c.(673-675)caT>caC	p.H225H	CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.H225H|CRISP1_ENST00000505118.1_Silent_p.H225H|CRISP1_ENST00000507853.1_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	225					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ATCCCAGATAATGGACTTGTA	0.363000													6	88					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101659	58101659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58101659C>A	ENST00000597850.1	+	4	695	c.480C>A	c.(478-480)ttC>ttA	p.F160L	ZIK1_ENST00000599456.1_Missense_Mutation_p.F105L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.F147L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGCCTATTCTGTATGTCAT	0.493000													22	41					6.44725e-10	7.85205e-10	1	1	0
NOX1	27035	broad.mit.edu	37	X	100099015	100099015	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100099015G>A	ENST00000372966.3	-	13	1826	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	NOX1_ENST00000372960.4_Missense_Mutation_p.R504C|NOX1_ENST00000217885.5_Missense_Mutation_p.R492C|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCATTTGCGCAGGCTCTTT	0.423000													9	16					0	0	1	0	0
CA5BP1	0	broad.mit.edu	37	X	15706824	15706824	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15706824C>T	ENST00000380334.2	+	0	68																											TTCCTGGGGGCGATCGCCAGT	0.532000													7	25					0	0	1	0	0
ANP32E	81611	broad.mit.edu	37	1	150193064	150193064	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150193064C>A	ENST00000314136.8	-	7	1106		c.e7-1		ANP32E_ENST00000369119.3_Splice_Site|ANP32E_ENST00000369115.2_Splice_Site|ANP32E_ENST00000533654.1_Splice_Site|ANP32E_ENST00000436748.2_Splice_Site|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369116.4_Splice_Site	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E							cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCTTCTTCTTAAAGAGTG	0.383000													42	95					7.63091e-17	1.01921e-16	1	1	0
HNRNPD	3184	broad.mit.edu	37	4	83280639	83280639	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83280639C>T	ENST00000313899.7	-	3	721	c.444G>A	c.(442-444)tcG>tcA	p.S148S	HNRNPD_ENST00000543098.1_Silent_p.S96S|HNRNPD_ENST00000352301.4_Silent_p.S129S|HNRNPD_ENST00000353341.4_Silent_p.S148S|HNRNPD_ENST00000541060.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	148	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTACACTCTCCGATTCTTTAA	0.358000													23	41					0	0	1	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95445014	95445014	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95445014A>C	ENST00000359204.4	-	9	811	c.614T>G	c.(613-615)cTt>cGt	p.L205R	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L205R|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L205R	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	205	Lys-rich.					nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TAATTTAACAAGTGCATTTCT	0.264000													17	62					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140851266	140851266	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140851266G>A	ENST00000371372.1	+	9	1375	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.K410K|CACNA1B_ENST00000277551.2_Silent_p.K410K|CACNA1B_ENST00000371355.4_Silent_p.K410K|CACNA1B_ENST00000371357.1_Silent_p.K410K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	410					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGAGGAGAAGTCCCCTTTGG	0.612000													26	47					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821807	5821807	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5821807G>A	ENST00000381095.3	-	5	1539	c.912C>T	c.(910-912)gtC>gtT	p.V304V	NLGN4X_ENST00000381092.1_Silent_p.V304V|NLGN4X_ENST00000381093.2_Silent_p.V324V|NLGN4X_ENST00000275857.6_Silent_p.V304V|NLGN4X_ENST00000538097.1_Silent_p.V304V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	304					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTTGCAGCCGACCTTGTCTG	0.577000													48	84					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626170	102626170	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:102626170A>C	ENST00000332549.3	+	3	443	c.214A>C	c.(214-216)Aat>Cat	p.N72H	IL1R2_ENST00000393414.2_Missense_Mutation_p.N72H|IL1R2_ENST00000441002.1_Missense_Mutation_p.N72H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	72	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATGGCATAAAAATGACTCTGC	0.612000													90	147					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633900	32633900	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:32633900G>T	ENST00000242310.4	-	1	1767	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	560					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGCCCAAGAGAATTCGACTC	0.448000													14	207					3.27435e-08	3.83577e-08	1	1	0
HSP90AB2P	0	broad.mit.edu	37	4	13338505	13338505	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13338505T>C	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						TATTGGCTTTTATTCTGCCTA	0.463000													5	47					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179253834	179253834	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179253834G>T	ENST00000190611.4	+	21	2631	c.2255G>T	c.(2254-2256)aGa>aTa	p.R752I	OSBPL6_ENST00000409045.3_Missense_Mutation_p.R721I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R716I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R716I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R777I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R756I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	752					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTAACCATCAGAAATACCAAA	0.353000													19	31					1.33834e-09	1.61283e-09	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92926544	92926544	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92926544G>T	ENST00000544910.1	+	17	1480	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	CCDC132_ENST00000305866.5_Missense_Mutation_p.K450N|CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N|CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N|CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	450								p.K450N(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTATTTCAAGAATTACCATA	0.284000													5	23					0.0215528	0.0219788	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162841649	162841649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:162841649C>A	ENST00000306100.5	-	4	752	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E105*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E105*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.E105*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	106	Kazal-like.					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)		TCATAGAATTCTCCGTCAGAT	0.438000													17	25					1.67942e-08	1.98515e-08	1	1	0
TBC1D1	23216	broad.mit.edu	37	4	38046077	38046077	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38046077C>A	ENST00000261439.4	+	9	1863	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S503Y	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	503						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAAAGAGATCTTTAACAGAG	0.368000													20	50					1.15919e-05	1.28007e-05	1	1	0
LMBRD1	55788	broad.mit.edu	37	6	70386119	70386119	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70386119T>G	ENST00000370577.3	-	16	1783	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	LMBRD1_ENST00000370570.1_Missense_Mutation_p.K445N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	518					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CAATAACCGATTTCTTCCCTT	0.323000													8	25					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27003940	27003940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:27003940G>T	ENST00000382009.3	+	6	1255	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	STIM2_ENST00000412829.2_Nonsense_Mutation_p.E330*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E330*	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	243					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.E330*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GACATCAAAAGAACATGTTGC	0.373000													16	18					3.45872e-05	3.78815e-05	1	1	0
GRID2	2895	broad.mit.edu	37	4	93511403	93511403	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:93511403T>G	ENST00000282020.4	+	2	468	c.210T>G	c.(208-210)gtT>gtG	p.V70V	GRID2_ENST00000510992.1_Silent_p.V70V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	70					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)	TGACGTTTGTTGATGGCAACA	0.383000													30	67					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128657270	128657270	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128657270G>A	ENST00000371122.4	-	1	207	c.78C>T	c.(76-78)gaC>gaT	p.D26D	SMARCA1_ENST00000371123.1_Silent_p.D26D|SMARCA1_ENST00000371121.3_Silent_p.D26D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	26					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGGCTGCTCGTCCTCTATGA	0.687000													16	93					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24911222	24911222	+	Silent	SNP	C	C	T	rs143438140	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911222C>T	ENST00000413389.2	+	6	2064	c.471C>T	c.(469-471)ttC>ttT	p.F157F	UPB1_ENST00000326010.5_Silent_p.F225F			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	225	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.F225F(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGACGCAGTTCGGAAGGATCG	0.537000													47	83					0	0	1	0	0
UROD	7389	broad.mit.edu	37	1	45481017	45481017	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45481017C>T	ENST00000246337.4	+	10	1070	c.951C>T	c.(949-951)atC>atT	p.I317I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	317						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGAGGAGATCGGGCAGTTGG	0.532000									Porphyria Cutanea Tarda, Type II		OREG0013449	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
TRIM6-TRIM34	0	broad.mit.edu	37	11	5664849	5664849	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5664849C>A	ENST00000354852.5	+	14	2612	c.2439C>A	c.(2437-2439)ttC>ttA	p.F813L	TRIM34_ENST00000514226.1_Missense_Mutation_p.F459L|TRIM34_ENST00000495668.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F459L|TRIM34_ENST00000429814.2_Missense_Mutation_p.F459L	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		813						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TTTACAAGTTCTCTAAATGTT	0.453000													38	105					4.62619e-21	6.37263e-21	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414132	20414132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20414132C>A	ENST00000380338.4	-	5	998	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.E235*|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGTTTATTTTCTTTGGGTTTC	0.383000			T	MLL	ALL								64	124					1.33661e-31	1.91338e-31	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682877	53682877	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53682877G>A	ENST00000262135.4	-	16	2396	c.2304_splice	c.e16+1	p.S768_splice	RPGRIP1L_ENST00000564374.1_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000379925.3_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000563746.1_Splice_Site_p.S768_splice	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	768					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAGCTTACCGACTGCATATG	0.353000													11	61					0	0	1	0	0
PTPRB	0	broad.mit.edu	37	12	70946656	70946656	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70946656T>C	ENST00000334414.6	-	21	5332	c.5288A>G	c.(5287-5289)aAc>aGc	p.N1763S	PTPRB_ENST00000550857.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1675S|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1545S|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1455S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1545	Tyrosine-protein phosphatase.				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)			AAGCTTAATGTTAAAACTCTT	0.463000													30	49					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859658	38859658	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38859658G>T	ENST00000264651.2	-	1	344	c.288C>A	c.(286-288)gtC>gtA	p.V96V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	96	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAAATCCAGAGACCCCGCCAA	0.567000													85	160					1.07134e-49	1.55542e-49	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68111283	68111283	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68111283T>C	ENST00000262215.3	-	39	5825	c.5436A>G	c.(5434-5436)caA>caG	p.Q1812Q	ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1812					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCAAGTCAAATTGCATAATTT	0.383000													23	55					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10793809	10793809	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10793809A>C	ENST00000449870.1	+	14	1874	c.1557A>C	c.(1555-1557)aaA>aaC	p.K519N	ILF3_ENST00000588657.1_Missense_Mutation_p.K519N|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000407004.3_Missense_Mutation_p.K519N|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000589998.1_Intron|ILF3_ENST00000592763.1_Missense_Mutation_p.K519N|ILF3_ENST00000250241.8_Intron	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	516					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAACGTAAAACAGCAGGGGC	0.562000													63	108					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724344	14724344	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14724344G>T	ENST00000253697.3	+	3	576	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	42			G -> D (in dbSNP:rs17040154).			cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTACCAAAAGGCATCAGAAA	0.512000													26	92					1.16021e-09	1.40238e-09	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991559	21991559	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21991559T>G	ENST00000594012.1	-	7	1776	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K421T|ZNF43_ENST00000354959.4_Missense_Mutation_p.K427T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K421T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATTTGTAGGGTTT	0.393000													37	44					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70713070	70713070	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70713070C>A	ENST00000530196.1	-	0	1448					NR_003951.1																						GAGTGCAGTTCAATGGACAAC	0.488000													6	48					0.0215528	0.0219788	1	1	0
LHFPL1	340596	broad.mit.edu	37	X	111874817	111874817	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111874817A>C	ENST00000371968.3	-	4	733	c.494T>G	c.(493-495)cTt>cGt	p.L165R	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.L132R	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	165						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGCCCAGCCAAGCCGACAGGT	0.473000													17	49					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639251	18639251	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18639251G>T	ENST00000380548.4	+	7	1015		c.e7-1		ADAMTSL1_ENST00000327883.7_Splice_Site|ADAMTSL1_ENST00000380566.4_Splice_Site|ADAMTSL1_ENST00000276935.6_Splice_Site	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGATCATATAGATCTGGAAAC	0.438000													16	13					1.5739e-10	1.93697e-10	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87656060	87656060	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87656060A>C	ENST00000320005.5	-	10	1144	c.1097T>G	c.(1096-1098)aTt>aGt	p.I366S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	366					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACAGGCATTAATGTGCAGAAT	0.368000													25	39					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908440	103908440	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908440G>T	ENST00000302259.3	+	1	1133	c.890G>T	c.(889-891)aGa>aTa	p.R297I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	297					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCACACAGAGAATTATTGGC	0.483000													7	86					0.00198382	0.00207034	1	1	0
TAF7L	54457	broad.mit.edu	37	X	100530220	100530220	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100530220T>A	ENST00000372907.3	-	12	1345	c.1334A>T	c.(1333-1335)aAa>aTa	p.K445I	TAF7L_ENST00000356784.1_Missense_Mutation_p.K359I|TAF7L_ENST00000324762.6_Missense_Mutation_p.K285I|TAF7L_ENST00000372905.2_Missense_Mutation_p.K285I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	445					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTCTCATTTTTTTGTTTTTC	0.333000													74	112					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57506209	57506209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57506209C>A	ENST00000278422.4	+	5	527	c.515C>A	c.(514-516)tCa>tAa	p.S172*	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Nonsense_Mutation_p.S134*	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	172	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GACTGCCAATCATTTGCCCCT	0.483000													48	96					2.43468e-25	3.42684e-25	1	1	0
WAPAL	23063	broad.mit.edu	37	10	88277381	88277381	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88277381C>T	ENST00000298767.5	-	2	918	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	149	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTACAATTCGGTTTGTGCT	0.368000													16	51					0	0	1	0	0
AKTIP	64400	broad.mit.edu	37	16	53528122	53528122	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53528122A>C	ENST00000300245.4	-	9	855	c.638T>G	c.(637-639)gTt>gGt	p.V213G	AKTIP_ENST00000570004.1_Missense_Mutation_p.V213G|AKTIP_ENST00000394657.6_Missense_Mutation_p.V213G			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	213					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				ACTGTCAACAACTTTACTTTT	0.348000													12	38					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153135092	153135092	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153135092T>C	ENST00000370060.1	-	11	1339	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	L1CAM_ENST00000370057.3_Missense_Mutation_p.I384V|L1CAM_ENST00000370055.1_Missense_Mutation_p.I379V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I386V|L1CAM_ENST00000538883.1_Missense_Mutation_p.I386V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I384V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I379V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	384	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGCTGAATCCGGTACTTC	0.632000													3	32					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73844488	73844488	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73844488G>T	ENST00000334126.7	-	6	1296	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	C2CD3_ENST00000539061.1_Missense_Mutation_p.S357Y|C2CD3_ENST00000313663.7_Missense_Mutation_p.S357Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	357						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)					TGCTCTAAGAGAATCTTCATT	0.383000													5	26					0.014758	0.015099	1	1	0
UGT8	7368	broad.mit.edu	37	4	115544196	115544196	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115544196T>C	ENST00000310836.6	+	2	682	c.160T>C	c.(160-162)Ttc>Ctc	p.F54L	UGT8_ENST00000394511.3_Missense_Mutation_p.F54L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	54					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCATACAGTGTTCCTCCTCTC	0.488000													19	54					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296758	18296758	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:18296758G>T	ENST00000377671.3	+	7	1819	c.1260G>T	c.(1258-1260)caG>caT	p.Q420H	ZNF133_ENST00000401790.1_Missense_Mutation_p.Q421H|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q421H|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q358H|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q424H|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	421						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCAGAATTCAACCC	0.562000													42	81					6.45866e-13	8.20724e-13	1	1	0
KCNS2	3788	broad.mit.edu	37	8	99440676	99440676	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99440676G>T	ENST00000287042.4	+	2	819	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	KCNS2_ENST00000521839.1_Missense_Mutation_p.D157Y	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	157						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTCTACAACGACGCCTCCAA	0.612000													31	34					2.49675e-24	3.5028e-24	1	1	0
ACSL5	51703	broad.mit.edu	37	10	114169443	114169443	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114169443G>A	ENST00000393081.1	+	7	1018	c.711_splice	c.e7+1	p.E237_splice	ACSL5_ENST00000354273.4_Splice_Site_p.E237_splice|ACSL5_ENST00000433418.1_Splice_Site_p.E237_splice|ACSL5_ENST00000354655.4_Splice_Site_p.E237_splice|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000356116.1_Splice_Site_p.E293_splice	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	237					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATGATGCTGAGGTATGGATCT	0.468000													30	85					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27551727	27551727	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27551727C>T	ENST00000359541.2	-	15	2540	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R704Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	704						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCTTTTCGAGGAGCAGT	0.403000													13	26					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777266	44777266	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44777266C>A	ENST00000391958.2	+	5	580	c.453C>A	c.(451-453)gtC>gtA	p.V151V	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTAGTCAGGTCTCTGAAGATG	0.418000													24	38					1.85244e-09	2.22951e-09	1	1	0
BBS7	0	broad.mit.edu	37	4	122756435	122756435	+	Missense_Mutation	SNP	G	G	A	rs150743868	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122756435G>A	ENST00000264499.4	-	14	1558	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	BBS7_ENST00000506636.1_Missense_Mutation_p.R459C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	459					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAATTGAGCGAATCTGATTC	0.358000									Bardet-Biedl syndrome				21	29					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958728	34958728	+	Silent	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34958728G>C	ENST00000250156.7	+	1	728	c.489G>C	c.(487-489)ctG>ctC	p.L163L	MRM1_ENST00000585770.1_Intron	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	163					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGGCTGTGCTGCGTTCCGCAC	0.622000													23	32					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150111	25150111	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25150111C>T	ENST00000332271.5	-	8	1263	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PIWIL3_ENST00000533313.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D174N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	283					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGCTCACATCGGCACAGAGG	0.408000													17	32					0	0	1	0	0
LPPR5	0	broad.mit.edu	37	1	99418684	99418684	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99418684C>T	ENST00000370188.3	-	3	923	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	LPPR5_ENST00000263177.4_Missense_Mutation_p.R188Q	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		188						integral to membrane	hydrolase activity										AAAGGTTTTTCGGGCTCTCAT	0.418000													23	34					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112361580	112361580	+	Nonsense_Mutation	SNP	C	C	T	rs139627416		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:112361580C>T	ENST00000361804.4	+	24	2956	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	944					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.R944*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAAGAAAATTCGAGAACTTGG	0.368000													24	57					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99006196	99006196	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99006196C>T	ENST00000393504.1	+	6	942	c.525C>T	c.(523-525)atC>atT	p.I175I	CNGA3_ENST00000409937.1_Silent_p.I179I|CNGA3_ENST00000436404.2_Silent_p.I157I|CNGA3_ENST00000272602.2_Silent_p.I175I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	175					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						TGACCGCCATCGCCCTGCCTG	0.557000													48	84					0	0	1	0	0
ZNF726	730087	broad.mit.edu	37	19	24102284	24102284	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24102284G>T	ENST00000594466.1	+	2	218	c.113G>T	c.(112-114)aGa>aTa	p.R38I	ZNF726_ENST00000531821.2_Missense_Mutation_p.R38I|ZNF726_ENST00000575986.1_Missense_Mutation_p.R38I|ZNF726_ENST00000525354.2_Missense_Mutation_p.R38I|ZNF726_ENST00000334589.5_Missense_Mutation_p.R38I|ZNF726_ENST00000322487.7_Missense_Mutation_p.R38I|CTB-92J24.3_ENST00000596326.1_RNA	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	38					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GAGAACTACAGAAACCTGGCC	0.353000													49	87					6.08268e-21	8.37076e-21	1	1	0
TSC22D1	8848	broad.mit.edu	37	13	45148935	45148935	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45148935A>G	ENST00000458659.2	-	1	1766	c.1276T>C	c.(1276-1278)Tgc>Cgc	p.C426R	TSC22D1_ENST00000501704.2_Missense_Mutation_p.C426R	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	426					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AACTCAGTGCAAGTCCATCTA	0.403000													33	48					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58153597	58153597	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58153597T>C	ENST00000184956.6	-	2	237	c.219_splice	c.e2-1	p.D74_splice	HEATR6_ENST00000585976.1_Splice_Site_p.D74_splice	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	74							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGCACTAACGTCCTACCAAAA	0.368000													9	22					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198682092	198682092	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198682092G>A	ENST00000367376.2	+	12	1347	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	PTPRC_ENST00000352140.3_Silent_p.E344E|PTPRC_ENST00000594404.1_Silent_p.E231E|PTPRC_ENST00000442510.2_Silent_p.E394E|PTPRC_ENST00000348564.6_Silent_p.E233E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	392	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						GTCCAGGAGAGCCTCAGATTA	0.318000													16	39					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60646231	60646231	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60646231C>T	ENST00000400316.4	+	17	4966	c.3185C>T	c.(3184-3186)gCc>gTc	p.A1062V	PHLPP1_ENST00000262719.5_Missense_Mutation_p.A1574V	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1574				L -> F (in Ref. 4; AAH47653).	apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGCAGCCGGGCCAAGGAGAAG	0.622000													10	17					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46874577	46874577	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46874577C>T	ENST00000447340.1	-	2	232	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PRSS42_ENST00000429665.1_Missense_Mutation_p.R164Q			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	164					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAGGTCATTTCGAATGGTTGT	0.458000													26	39					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529030	57529030	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57529030G>T	ENST00000420713.1	+	4	975	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACTACAAGAGAATTCATACT	0.408000													22	10					1.2644e-06	1.4261e-06	1	1	0
DUSP10	11221	broad.mit.edu	37	1	221879708	221879708	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:221879708C>T	ENST00000366899.3	-	3	1150	c.912G>A	c.(910-912)tcG>tcA	p.S304S	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	304					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTAGCAAGCTCGAGGCCGCGG	0.592000													50	98					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50092097	50092097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:50092097C>T	ENST00000371564.3	-	4	1652	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	NFATC2_ENST00000396009.3_Missense_Mutation_p.R478Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.R458Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	478	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCCGTGATTCGGTGCACCTG	0.522000													45	78					0	0	1	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27535116	27535116	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27535116T>G	ENST00000574842.1	+	0	255																											TTAGATGACTTCTTGTGCAGC	0.493000													10	26					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52981573	52981573	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981573C>T	ENST00000371544.3	-	3	1134	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R291Q|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.R291Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	291					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTTTCAAGTCGAAAGATGTG	0.363000													24	43					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402871	133402871	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133402871C>T	ENST00000329321.3	+	2	1523	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352						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						GCAGCAGTTTCGGCGGGTGTT	0.632000													21	48					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109098819	109098819	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109098819A>G	ENST00000309863.6	+	11	3971	c.3257A>G	c.(3256-3258)gAa>gGa	p.E1086G		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1086					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAATTATTAGAAGTACAGATT	0.328000													17	28					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593733	135593733	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135593733T>C	ENST00000535601.1	+	10	2251	c.1829T>C	c.(1828-1830)gTg>gCg	p.V610A	HTATSF1_ENST00000218364.4_Missense_Mutation_p.V610A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	610	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TCTGAAAAAGTGTTAGATGAG	0.373000													5	95					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769642	31769642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31769642G>A	ENST00000240587.4	-	2	1384	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	353					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGTTCTTCTGAAGTGCATCG	0.562000													15	181					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70515435	70515435	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70515435A>C	ENST00000260128.4	+	11	1787	c.1070A>C	c.(1069-1071)cAg>cCg	p.Q357P	SULF1_ENST00000458141.2_Missense_Mutation_p.Q357P|SULF1_ENST00000419716.3_Missense_Mutation_p.Q357P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.Q357P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	357					apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGAGTCCCACAGATCGTTCTC	0.542000													68	139					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977295	21977295	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:21977295C>A	ENST00000381418.4	-	14	4435	c.2955G>T	c.(2953-2955)gaG>gaT	p.E985D	HR_ENST00000312841.8_Missense_Mutation_p.E985D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	985	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGAGCTGGGGCTCCAGTGGAC	0.627000													5	53					0.014758	0.015099	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50053473	50053473	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50053473G>T	ENST00000376042.1	+	6	2602	c.2304G>T	c.(2302-2304)ttG>ttT	p.L768F	CCNB3_ENST00000276014.7_Missense_Mutation_p.L768F|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	768					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTGGCTTTGAATGAGACCA	0.458000													6	15					3.59834e-05	3.93264e-05	1	1	0
SLC9B1	150159	broad.mit.edu	37	4	103867923	103867923	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:103867923T>C	ENST00000296422.7	-	5	547	c.406A>G	c.(406-408)Att>Gtt	p.I136V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I136V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	136						integral to membrane	solute:hydrogen antiporter activity										ACATTCCTAATCGTAAAACCA	0.333000													9	16					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672466	186672466	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:186672466G>A	ENST00000343098.5	+	17	18700	c.18700G>A	c.(18700-18702)Gaa>Aaa	p.E6234K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6145K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAGTGTGTGGAAGTTGAAAA	0.398000													8	54					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207791	121207791	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121207791C>A	ENST00000264233.5	-	16	4115	c.3987G>T	c.(3985-3987)gaG>gaT	p.E1329D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1329					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTATTATTTTCTCTGACTGAG	0.373000								DNA polymerases (catalytic subunits)					23	37					1.55795e-14	2.03067e-14	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801671	20801671	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:20801671C>A	ENST00000359062.3	+	13	2655	c.2615C>A	c.(2614-2616)gCt>gAt	p.A872D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	872	Catalytic (By similarity).|Poly-Ala.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CACGCAGCTGCTGCATGGAAT	0.378000													21	48					2.98393e-07	3.42142e-07	1	1	0
CASC1	55259	broad.mit.edu	37	12	25299943	25299943	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25299943C>T	ENST00000354189.5	-	8	890	c.855G>A	c.(853-855)aaG>aaA	p.K285K	CASC1_ENST00000395990.2_Silent_p.K181K|CASC1_ENST00000320267.9_Silent_p.K221K|CASC1_ENST00000537577.1_Silent_p.K109K|CASC1_ENST00000395987.3_Silent_p.K227K|CASC1_ENST00000545133.1_Silent_p.K162K|CASC1_ENST00000557684.1_5'UTR	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	221										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACCTTGGATTCTTCTTGAGGT	0.418000													22	39					0	0	1	0	0
CLDN20	49861	broad.mit.edu	37	6	155597436	155597436	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155597436G>A	ENST00000367165.3	+	2	963	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	195					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		AGCTAGACTCGACCCACCCAC	0.408000													18	39					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447575	82447575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:82447575C>T	ENST00000370728.1	+	21	3830	c.3185C>T	c.(3184-3186)aCt>aTt	p.T1062I	LPHN2_ENST00000359929.3_Missense_Mutation_p.T1049I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1077I|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1062I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1062I|LPHN2_ENST00000370713.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370715.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1077I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T1049I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T987I			O95490	LPHN2_HUMAN	latrophilin 2	1062					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGAGGAGACTATTGTGATG	0.398000													40	78					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091232	29091232	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29091232T>G	ENST00000544772.1	-	13	2033		c.e13-2		CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000405598.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2						cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCACTAAGGCTTAATATTGGT	0.388000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	10					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701595	30701595	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701595A>C	ENST00000256246.2	-	1	5013	c.4939T>G	c.(4939-4941)Ttt>Gtt	p.F1647V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1647										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCCACAAATAAAGGGAGA	0.353000													12	26					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44948523	44948523	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44948523C>A	ENST00000296125.4	+	10	1226	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	386					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCGTCTTCTCAGAAGTGA	0.507000													47	69					3.4345e-17	4.60033e-17	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043162	20043162	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20043162A>G	ENST00000570682.1	-	2	1257	c.957T>C	c.(955-957)ttT>ttC	p.F319F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	319						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTGTTATGGAAAAGTTATGAT	0.483000													55	87					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751869	53751869	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:53751869G>T	ENST00000302005.1	+	1	425	c.250G>T	c.(250-252)Gac>Tac	p.D84Y		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	84					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CCTCCCTGAAGACATCATCAT	0.537000													36	89					1.36161e-19	1.85609e-19	1	1	0
STAG1	10274	broad.mit.edu	37	3	136221539	136221539	+	Silent	SNP	G	G	A	rs113504457	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	253					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.A253A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATTTCTCTCGGCTTCATATT	0.383000													6	50					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539095	72539095	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72539095G>A	ENST00000330793.1	-	3	792	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	144	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCATGGAGCTCTGGGGGC	0.622000													26	37					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4996205	4996205	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4996205G>T	ENST00000318833.3	+	2	1742	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATACATCAGAGAATTCACACT	0.428000													16	42					5.01169e-05	5.45927e-05	1	1	0
NARG2	79664	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	178						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303000													15	29					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18638065	18638065	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18638065G>T	ENST00000379989.3	+	17	2640	c.2355G>T	c.(2353-2355)aaG>aaT	p.K785N	CDKL5_ENST00000379996.3_Missense_Mutation_p.K785N|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	785	Poly-Lys.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAATGAAAAAGAAAAAGAAGA	0.308000													7	8					8.12818e-05	8.79784e-05	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213414614	213414614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213414614G>T	ENST00000366960.3	+	11	1945	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E387*|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E587*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.E302*|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	599					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAGCCCCATGGAATTCTTTAG	0.418000													17	27					0.000566183	0.00059967	1	1	0
TEK	7010	broad.mit.edu	37	9	27202911	27202911	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:27202911C>A	ENST00000380036.4	+	13	2445	c.2003C>A	c.(2002-2004)tCt>tAt	p.S668Y	TEK_ENST00000406359.4_Missense_Mutation_p.S625Y|TEK_ENST00000519097.1_Missense_Mutation_p.S521Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	668	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATTCTATTTCTTCTATTACT	0.403000													29	59					3.73148e-12	4.68978e-12	1	1	0
ABI1	10006	broad.mit.edu	37	10	27052890	27052890	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27052890C>A	ENST00000355394.4	-	8	1047		c.e8-1		ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376142.2_Splice_Site|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376170.4_Intron			Q8IZP0	ABI1_HUMAN	abl-interactor 1						actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAATGTTTTCTAATAAAATA	0.398000													12	28					0.00010058	0.000108553	1	1	0
XPO1	7514	broad.mit.edu	37	2	61717829	61717829	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61717829T>C	ENST00000401558.2	-	17	2697	c.1970A>G	c.(1969-1971)tAc>tGc	p.Y657C	XPO1_ENST00000404992.2_Missense_Mutation_p.Y657C|XPO1_ENST00000406957.1_Missense_Mutation_p.Y657C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	657	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GAGTAACATGTACTTTTCTAT	0.353000			Mis		CLL								11	60					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28862175	28862175	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28862175C>A	ENST00000399613.1	+	17	1902	c.1839C>A	c.(1837-1839)ctC>ctA	p.L613L	PAN3_ENST00000380958.3_Silent_p.L813L|PAN3_ENST00000282391.5_Silent_p.L501L			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	813	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGTTGAAACTCTTTAGGGATC	0.418000													11	24					5.50884e-06	6.10489e-06	1	1	0
BCKDHB	594	broad.mit.edu	37	6	80912855	80912855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80912855G>T	ENST00000320393.6	+	8	924	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E293*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	293					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATGGCAAAAGAAAAGCTTGG	0.373000													31	49					1.26612e-14	1.65413e-14	1	1	0
PCOLCE	5118	broad.mit.edu	37	7	100203323	100203323	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100203323T>C	ENST00000223061.5	+	5	893	c.613T>C	c.(613-615)Ttt>Ctt	p.F205L		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	205	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTCGAGAAGTTTGACCTGGA	0.677000													7	7					0	0	1	0	0
METTL21A	151194	broad.mit.edu	37	2	208477906	208477906	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208477906C>T	ENST00000411432.1	-	4	737	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000448823.2_3'UTR	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	174						integral to membrane	methyltransferase activity	p.R174Q(2)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATAGCGAATTCGGCATGCTAA	0.383000													42	82					0	0	1	0	0
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	G	A	rs146730920		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67899124G>A	ENST00000219169.4	+	2	374	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468000													14	28					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005605	42005605	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42005605C>T	ENST00000395925.3	-	15	3150	c.3066G>A	c.(3064-3066)ccG>ccA	p.P1022P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1022					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						TGCTGAAGCGCGGCACACGAG	0.736000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	19					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45882464	45882464	+	Missense_Mutation	SNP	G	G	A	rs144003583	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:45882464G>A	ENST00000443527.2	+	4	618	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CRY2_ENST00000417225.2_Missense_Mutation_p.R117H|CRY2_ENST00000473199.1_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	178					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ATCATCAGCCGCATGGAGCTG	0.582000													35	63					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193194	128193194	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128193194G>T	ENST00000284694.7	-	3	695	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	C10orf90_ENST00000544758.1_Missense_Mutation_p.S289Y|C10orf90_ENST00000454341.1_Missense_Mutation_p.S192Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.S145Y|C10orf90_ENST00000356858.3_Missense_Mutation_p.S145Y|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCAGGCAAAAGATCTCTGATG	0.622000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	76					1.04121e-07	1.21041e-07	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3097838	3097838	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:3097838G>A	ENST00000397461.1	+	24	3399	c.3015G>A	c.(3013-3015)tcG>tcA	p.S1005S	CNTN4_ENST00000397459.2_Silent_p.S677S|CNTN4_ENST00000418658.1_Silent_p.S1005S|CNTN4_ENST00000427331.1_Silent_p.S1005S|CNTN4_ENST00000358480.3_Silent_p.S786S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.S677S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1005					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTCCACTTCGAATGCATGTA	0.463000													12	30					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230907779	230907779	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230907779G>A	ENST00000354537.1	+	7	891	c.809G>A	c.(808-810)aGa>aAa	p.R270K	CAPN9_ENST00000366666.2_Missense_Mutation_p.R207K|CAPN9_ENST00000271971.2_Missense_Mutation_p.R270K|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	270	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGAGGCCAGAGAATCGAGCTC	0.537000													10	68					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34959070	34959070	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34959070T>G	ENST00000250156.7	+	2	870	c.631T>G	c.(631-633)Tta>Gta	p.L211V	MRM1_ENST00000585770.1_Missense_Mutation_p.L16V	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	211					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACCGGATTTTTACAGGTAAT	0.582000											OREG0024338	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56882055	56882055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882055G>T	ENST00000370746.3	+	5	839	c.570G>T	c.(568-570)caG>caT	p.Q190H	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.Q92H	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	190	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAAGCCTCAGAAGTTTATTA	0.388000													7	15					3.09899e-07	3.54467e-07	1	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50664759	50664759	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50664759G>A	ENST00000439308.2	-	8	2142	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	TUBGCP6_ENST00000248846.5_Silent_p.G550G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	550					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCATGAACTCGCCATAAGCGT	0.607000													14	12					0	0	1	0	0
UXT	8409	broad.mit.edu	37	X	47516992	47516992	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47516992T>G	ENST00000335890.2	-	3	416	c.263A>C	c.(262-264)aAc>aCc	p.N88T	UXT_ENST00000333119.3_Missense_Mutation_p.N76T	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	76					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AACGAAGAAGTTACAGCCCAA	0.498000													11	21					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534175	152534175	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152534175C>A	ENST00000397345.3	-	34	3880	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N	NEB_ENST00000603639.1_Missense_Mutation_p.K1226N|NEB_ENST00000604864.1_Missense_Mutation_p.K1226N|NEB_ENST00000409198.1_Missense_Mutation_p.K1226N|NEB_ENST00000172853.10_Missense_Mutation_p.K1226N|NEB_ENST00000427231.2_Missense_Mutation_p.K1226N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1226					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTGTACTTCTTTTCATTCA	0.458000													49	101					4.18559e-23	5.84444e-23	1	1	0
SNHG14	0	broad.mit.edu	37	15	25324254	25324254	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25324254T>C	ENST00000549804.2	+	0	1377				SNORD116-13_ENST00000384408.1_RNA																							CTGAACAAAATGAGTGGGAAC	0.418000													7	110					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192517117	192517117	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:192517117G>T	ENST00000392452.2	-	2	854	c.534C>A	c.(532-534)ttC>ttA	p.F178L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	178										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TAGGTGAGAAGAAGTAGTTGG	0.463000													35	37					8.4185e-14	1.08646e-13	1	1	0
FABP5P3	0	broad.mit.edu	37	7	152139670	152139670	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:152139670G>A	ENST00000477993.1	+	0	425					NR_002935.1																						GCGCCTGGTGGACAACAAAGG	0.547000													9	8					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21384886	21384886	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384886C>A	ENST00000380206.2	-	1	510	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	148					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R148I(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GAGAGTGATTCTTTGGAAGTA	0.468000													84	155					2.0464e-58	2.97336e-58	1	1	0
DTNA	1837	broad.mit.edu	37	18	32407596	32407596	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32407596C>A	ENST00000283365.9	+	12	1401	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000399113.3_Missense_Mutation_p.F350L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	350					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACACCCTGTTCTCCCACTCTG	0.403000													29	48					2.61193e-14	3.39424e-14	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124326058	124326058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124326058G>T	ENST00000409039.3	+	29	4997	c.4972G>T	c.(4972-4974)Gag>Tag	p.E1658*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1658	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATTACCAAAGAGGCTATTTT	0.418000													21	46					1.28384e-07	1.48174e-07	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464029	141464029	+	Missense_Mutation	SNP	A	A	C	rs146979075	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141464029A>C	ENST00000247879.2	+	1	133	c.71A>C	c.(70-72)aAt>aCt	p.N24T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	24					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATTCTGGTCAATTGTTTCATT	0.473000													54	114					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	213403311	213403311	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:213403311C>A	ENST00000342788.4	-	0	254				ERBB4_ENST00000436443.1_De_novo_Start_OutOfFrame	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						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)		GCATATCCCCCTTTCGGGCAC	0.667000										TSP Lung(8;0.080)			15	22					1.05317e-09	1.27574e-09	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139038459	139038459	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139038459A>G	ENST00000370540.1	-	3	705	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	228						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AATGGCTTGGATGGTGAGATT	0.453000													70	124					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770114	87770114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770114G>A	ENST00000273905.6	-	1	302	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	52						integral to membrane|plasma membrane	bile acid:sodium symporter activity	p.S52Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATCTCCACGGAACATCCCAA	0.557000													10	31					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867215	5867215	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5867215G>A	ENST00000252675.5	-	5	1084	c.522C>T	c.(520-522)agC>agT	p.S174S	FUT5_ENST00000588525.1_Silent_p.S174S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	174					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGTCGGAGTCGCTGCGGTAGG	0.652000													24	43					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802872	109802872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802872C>A	ENST00000230122.3	-	2	525	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	120	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TTTACCAGGTCATAGACTTTT	0.418000													40	72					5.04308e-16	6.68172e-16	1	1	0
CTSV	1515	broad.mit.edu	37	9	99797041	99797041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99797041G>A	ENST00000259470.5	-	7	1121	c.872C>T	c.(871-873)tCg>tTg	p.S291L	CTSV_ENST00000538255.1_Missense_Mutation_p.S291L	NM_001333.3	NP_001324.2			cathepsin V									p.S291L(1)									GCTGTTATTCGAATTTGCTCC	0.378000													22	37					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899720	128899720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:128899720G>T	ENST00000435159.2	+	2	529	c.529G>T	c.(529-531)Gaa>Taa	p.E177*		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	177						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TGCTTTCCGAGAAACCAGAGA	0.637000													12	14					5.50884e-06	6.10489e-06	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10556860	10556860	+	Missense_Mutation	SNP	G	G	T	rs56393118		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556860G>T	ENST00000316170.3	+	1	621	c.204G>T	c.(202-204)gaG>gaT	p.E68D	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	70						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGATCCATGAGAAGTCTTCTT	0.413000													78	19					4.81439e-37	6.93071e-37	1	1	0
KTN1	0	broad.mit.edu	37	14	56078943	56078943	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56078943G>T	ENST00000416613.1	+	1	249	c.177G>T	c.(175-177)aaG>aaT	p.K59N	KTN1_ENST00000413890.2_Missense_Mutation_p.K59N|KTN1_ENST00000395311.1_Missense_Mutation_p.K59N|KTN1_ENST00000395314.3_Missense_Mutation_p.K59N|KTN1_ENST00000395309.3_Missense_Mutation_p.K59N|KTN1_ENST00000438792.2_Missense_Mutation_p.K59N|KTN1_ENST00000395308.1_Missense_Mutation_p.K59N			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	59					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						aagcagaaaagaaaaagaata	0.338000			T	RET	papillary thryoid								12	29					3.07112e-06	3.42433e-06	1	1	0
FOXJ3	22887	broad.mit.edu	37	1	42744276	42744276	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42744276C>T	ENST00000372572.1	-	5	423	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FOXJ3_ENST00000361346.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A38T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	38					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTTGGATGGCTGCTCTCATG	0.433000													8	115					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366810	248366810	+	Silent	SNP	T	T	C	rs150518305	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248366810T>C	ENST00000456743.1	+	1	479	c.441T>C	c.(439-441)ttT>ttC	p.F147F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGACTGCCTTTTCCTGGATCC	0.453000													7	217					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153076473	153076473	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153076473A>C	ENST00000367244.3	+	4	472	c.300A>C	c.(298-300)aaA>aaC	p.K100N	VIP_ENST00000367243.3_Missense_Mutation_p.K100N	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	100					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TTTCTGCCAAAAAGTACCTTG	0.308000													10	21					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247366	19247366	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19247366A>G	ENST00000527884.1	-	11	2171	c.1939T>C	c.(1939-1941)Tcc>Ccc	p.S647P	E2F8_ENST00000250024.4_Missense_Mutation_p.S647P|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	647					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCCAGGGATGAGCACTGC	0.453000													77	149					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10311962	10311962	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10311962G>A	ENST00000287652.4	+	4	2147	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D366N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	366						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTCACCACCGACTATGTCAT	0.537000													56	93					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060321	144060321	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144060321G>A	ENST00000056217.5	+	2	733	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	187					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCTCCCTGCGAAGAGCATCC	0.507000													40	117					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48549533	48549533	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48549533G>T	ENST00000376701.4	+	12	1564	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	497	Asp/Glu-rich (acidic).				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGAAGATGAAGATGATGAATG	0.597000			"""Mis, N, F, S"""			lymphoma							23	35					6.36457e-07	7.23721e-07	1	1	0
WSB2	55884	broad.mit.edu	37	12	118474182	118474182	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118474182A>C	ENST00000315436.3	-	6	935	c.794T>G	c.(793-795)aTg>aGg	p.M265R	WSB2_ENST00000544233.1_Missense_Mutation_p.M55R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Missense_Mutation_p.M40R|WSB2_ENST00000441406.2_Missense_Mutation_p.M282R|WSB2_ENST00000535496.1_Missense_Mutation_p.M267R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	265					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTCCCACATAATCACATT	0.532000													54	114					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897903	36897903	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897903C>T	ENST00000429976.2	-	12	3425	c.3178G>A	c.(3178-3180)Gca>Aca	p.A1060T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A510T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A510T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1060					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						GGGCTTCCTGCCTGCTCAGCT	0.527000													14	25					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225316	78225316	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78225316G>A	ENST00000397909.2	+	1	248	c.75G>A	c.(73-75)ccG>ccA	p.P25P	NAV3_ENST00000228327.6_Silent_p.P25P|NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000536525.2_Silent_p.P25P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	25						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						CTGCTCTTCCGATACCAAATC	0.463000										HNSCC(70;0.22)			58	121					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739628	62739628	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62739628C>A	ENST00000371153.4	-	3	1526	c.1148G>T	c.(1147-1149)aGa>aTa	p.R383I	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	383										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						CTCTCGAATTCTTTGCTCCCT	0.537000													38	80					6.29468e-14	8.13866e-14	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147030017	147030017	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147030017T>C	ENST00000265272.5	-	4	1188	c.721A>G	c.(721-723)Aag>Gag	p.K241E	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K199E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K241E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	241						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)			AAAGCCTCCTTCTGAAGTTGG	0.478000													12	49					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770689	53770689	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770689G>T	ENST00000311170.4	-	1	283	c.230C>A	c.(229-231)gCt>gAt	p.A77D		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	77					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCACCCAAGAGCATTGAGAAA	0.488000										HNSCC(26;0.072)			4	58					0.150653	0.151842	1	1	0
IGHV3OR16-9	0	broad.mit.edu	37	16	32077585	32077585	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:32077585G>A	ENST00000354689.6	+	0	200				RP11-1166P10.6_ENST00000566806.1_RNA																							GTGAAAGGCCGATTCACCATC	0.517000													26	489					0	0	1	0	0
RP11-114H24.2	0	broad.mit.edu	37	15	78217391	78217391	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78217391C>A	ENST00000567226.1	-	0	111																											TGCTGATATTCTTTTAGCTGT	0.443000													18	27					6.49762e-13	8.24929e-13	1	1	0
ANKRD44	91526	broad.mit.edu	37	2	197954686	197954686	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197954686A>G	ENST00000328737.2	-	11	1172	c.1096T>C	c.(1096-1098)Ttg>Ctg	p.L366L	ANKRD44_ENST00000409153.1_Silent_p.L391L|ANKRD44_ENST00000337207.5_Silent_p.L366L|ANKRD44_ENST00000450567.1_Silent_p.L366L|ANKRD44_ENST00000282272.8_Silent_p.L383L|ANKRD44_ENST00000539527.1_Silent_p.L319L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	391							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATGATAACAACTTTCTGCAG	0.458000													20	47					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798421	185798421	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:185798421G>A	ENST00000302277.6	+	3	941	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						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						GCACTCCAACGCCTGCACAAG	0.403000													15	24					0	0	1	0	0
RP11-510H23.1	0	broad.mit.edu	37	6	125231469	125231469	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:125231469G>T	ENST00000439075.1	-	0	3276					NR_026876.1																						CCAAATATTTGAAAAGCTGCT	0.308000													9	14					2.17888e-05	2.39107e-05	1	1	0
NPY4R	0	broad.mit.edu	37	10	47087545	47087545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087545C>T	ENST00000374312.1	+	3	1181	c.762C>T	c.(760-762)agC>agT	p.S254S	NPY4R_ENST00000395716.1_Silent_p.S254S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GCACCTACAGCTTGCGAGCTG	0.597000													22	104					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134258875	134258875	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134258875T>C	ENST00000414097.2	-	13	1706	c.839A>G	c.(838-840)aAg>aGg	p.K280R	NDRG1_ENST00000518176.1_Missense_Mutation_p.K27R|NDRG1_ENST00000354944.5_Missense_Mutation_p.K210R|NDRG1_ENST00000323851.7_Missense_Mutation_p.K280R|NDRG1_ENST00000522476.1_Missense_Mutation_p.K214R|NDRG1_ENST00000537882.1_Missense_Mutation_p.K199R|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000521414.1_5'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	280					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GAGAGTGGTCTTTGTTGGGTC	0.443000			T	ERG	prostate								5	85					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32566248	32566248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:32566248G>T	ENST00000427288.1	+	9	1456	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000336294.5_Intron|TMEM39B_ENST00000487305.1_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	0						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CATTGCAAGAGAAAGCTATTT	0.512000													9	15					0.0477658	0.0484551	1	1	0
KLC1	3831	broad.mit.edu	37	14	104143808	104143808	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:104143808A>C	ENST00000389744.4	+	12	1705	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	KLC1_ENST00000347839.6_Missense_Mutation_p.K479T|KLC1_ENST00000445352.4_Missense_Mutation_p.K477T|KLC1_ENST00000557575.1_Missense_Mutation_p.K479T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.K651T|KLC1_ENST00000380038.3_Missense_Mutation_p.K479T|KLC1_ENST00000555836.1_Missense_Mutation_p.K479T|KLC1_ENST00000557450.1_Missense_Mutation_p.K479T|KLC1_ENST00000246489.7_Missense_Mutation_p.K479T|KLC1_ENST00000348520.6_Missense_Mutation_p.K479T|KLC1_ENST00000452929.2_Missense_Mutation_p.K479T|KLC1_ENST00000554280.1_Missense_Mutation_p.K479T|KLC1_ENST00000553286.1_Missense_Mutation_p.K479T|KLC1_ENST00000334553.6_Missense_Mutation_p.K479T			Q07866	KLC1_HUMAN	kinesin light chain 1	479					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CGTCAAGGCAAATTTGAAGCT	0.418000													45	52					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17567222	17567222	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17567222A>C	ENST00000375471.4	+	15	1817	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	PADI1_ENST00000413717.2_Intron|PADI1_ENST00000537499.1_Missense_Mutation_p.K132N|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.K46N	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	575					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TCTTCCTGAAAAACTTCTACG	0.577000													52	75					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672121	99672121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99672121G>T	ENST00000336292.6	+	5	3673	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1186	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACTGTCCAGAGAAGTCATCTT	0.627000													16	25					1.5739e-10	1.93697e-10	1	1	0
RRN3P2	0	broad.mit.edu	37	16	29113355	29113355	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:29113355G>A	ENST00000564580.1	+	0	1255																											AGGAACAATCGCCAGATGCTG	0.498000													15	26					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453047	100453047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453047C>A	ENST00000279907.7	-	14	2220	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E320*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	670										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTATAAATTTCATGCATTTTG	0.338000													25	44					1.1804e-14	1.54286e-14	1	1	0
INTS10	55174	broad.mit.edu	37	8	19684066	19684066	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19684066C>A	ENST00000397977.3	+	9	1534	c.1136C>A	c.(1135-1137)aCc>aAc	p.T379N		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	379					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGAGAAAAAACCATGGTAAGG	0.343000													13	23					0.00136819	0.00143372	1	1	0
NRD1	4898	broad.mit.edu	37	1	52271205	52271205	+	Silent	SNP	C	C	T	rs113829213	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52271205C>T	ENST00000354831.7	-	21	2532	c.2343G>A	c.(2341-2343)ccG>ccA	p.P781P	NRD1_ENST00000352171.7_Silent_p.P713P|NRD1_ENST00000539524.1_Silent_p.P649P|NRD1_ENST00000544028.1_Silent_p.P581P|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	712					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCTGTATCAACGGTGAAATTA	0.289000													15	18					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583744	35583744	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:35583744C>A	ENST00000287272.2	+	9	1191	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	UNC5D_ENST00000453357.2_Missense_Mutation_p.L455M|UNC5D_ENST00000420357.1_Missense_Mutation_p.L393M|UNC5D_ENST00000404895.2_Missense_Mutation_p.L460M|UNC5D_ENST00000449677.1_Missense_Mutation_p.L36M|UNC5D_ENST00000416672.1_Missense_Mutation_p.L465M			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	460					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCATCTGTCTGCAGGACCC	0.502000													7	69					1.12685e-05	1.24509e-05	1	1	0
ATRX	546	broad.mit.edu	37	X	76813007	76813007	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76813007G>T	ENST00000373344.5	-	30	6828	c.6614C>A	c.(6613-6615)aCt>aAt	p.T2205N	ATRX_ENST00000395603.3_Missense_Mutation_p.T2167N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2205	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAAGTTCAGTAAGCTCATT	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	94					1.05317e-09	1.27574e-09	1	1	0
FBXL3	26224	broad.mit.edu	37	13	77581885	77581885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:77581885C>A	ENST00000355619.5	-	5	1006	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	228					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGGGCTAGTTCTCTTAAGCCG	0.343000													4	36					2.56e-06	2.86294e-06	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108626509	108626509	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108626509C>T	ENST00000332082.4	+	8	1799	c.979_splice	c.e8-1	p.D327_splice	WSCD2_ENST00000261400.3_Splice_Site_p.D327_splice|WSCD2_ENST00000549903.1_Splice_Site_p.D327_splice|WSCD2_ENST00000547525.1_Splice_Site_p.D327_splice			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	327						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ccttttCAGACAACCGTTGCA	0.592000													13	18					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011661	21011661	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21011661A>T	ENST00000261383.3	-	43	6305	c.6306T>A	c.(6304-6306)aaT>aaA	p.N2102K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2102	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCAGAGAAATTGATGCAGT	0.517000													27	51					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18260638	18260638	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18260638G>T	ENST00000251900.4	-	14	2054	c.1895C>A	c.(1894-1896)tCt>tAt	p.S632Y	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	632	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCATCCACAGACCAGGTTGA	0.458000													13	84					1.5842e-08	1.87418e-08	1	1	0
CCNB2	9133	broad.mit.edu	37	15	59399854	59399854	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59399854A>C	ENST00000288207.2	+	3	443	c.252A>C	c.(250-252)gaA>gaC	p.E84D	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	84					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TACAGATGGAAAAGTTGGCTC	0.403000													16	39					0	0	1	0	0
STXBP5	0	broad.mit.edu	37	6	147635409	147635409	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:147635409A>G	ENST00000367481.3	+	13	1411	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	STXBP5_ENST00000367480.3_Missense_Mutation_p.I435V|STXBP5_ENST00000321680.6_Missense_Mutation_p.I435V|STXBP5_ENST00000179882.6_Missense_Mutation_p.I106V	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	435					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAATGGCCCATCAACGGAGG	0.388000													33	71					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112151216	112151216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112151216G>T	ENST00000457016.1	+	9	1239	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	APC_ENST00000508376.2_Nonsense_Mutation_p.E287*|APC_ENST00000257430.4_Nonsense_Mutation_p.E287*			P25054	APC_HUMAN	adenomatous polyposis coli	287	Leu-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			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)		AATGGACCATGAAACAGCCAG	0.398000		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)			21	36					7.41877e-09	8.8016e-09	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967015	41967015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:41967015G>T	ENST00000298919.7	+	10	2042	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E812*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E554*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	812							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGTTTTAGAAGGCAGCAA	0.502000													26	213					9.39395e-14	1.21013e-13	1	1	0
CATSPERB	79820	broad.mit.edu	37	14	92139243	92139243	+	Missense_Mutation	SNP	G	G	A	rs150597625	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92139243G>A	ENST00000256343.3	-	13	1252	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	366					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCAGTACCACGCTCTTGGTCA	0.363000													31	67					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126242114	126242114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126242114G>A	ENST00000368357.3	+	13	2622	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	NCOA7_ENST00000229634.9_Missense_Mutation_p.R642H|NCOA7_ENST00000392477.2_Missense_Mutation_p.R757H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGGCAAAGCGCAGGAAGAGC	0.453000													28	48					0	0	1	0	0
TRBV19	0	broad.mit.edu	37	7	142326512	142326512	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142326512C>A	ENST00000390393.3	+	0	150																											CGAGCCAAGTCTCTTTTCTCA	0.522000													6	22					0.0215528	0.0219788	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141298598	141298598	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141298598C>A	ENST00000389484.3	-	45	8428	c.7457G>T	c.(7456-7458)aGa>aTa	p.R2486I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2486					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)		ACAATTCACTCTCCCATTGGG	0.403000										TSP Lung(27;0.18)			28	56					3.65163e-15	4.79858e-15	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510546	48510546	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:48510546G>T	ENST00000446524.1	+	1	278	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCATTTATAGATATCATTTA	0.423000													20	30					8.34094e-07	9.42356e-07	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32031204	32031204	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:32031204C>A	ENST00000360311.4	+	2	1182	c.633C>A	c.(631-633)ttC>ttA	p.F211L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAAATAATTTCTTCCATTCAT	0.343000													29	51					7.41945e-09	8.8016e-09	1	1	0
MEGF9	1955	broad.mit.edu	37	9	123367548	123367548	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123367548A>C	ENST00000373930.3	-	6	1840	c.1729T>G	c.(1729-1731)Ttg>Gtg	p.L577V	MEGF9_ENST00000426959.1_Missense_Mutation_p.L614V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	577						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTTCCAACAATCCCGAAACA	0.483000													44	75					0	0	1	0	0
MGRN1	0	broad.mit.edu	37	16	4707338	4707338	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4707338G>T	ENST00000399577.5	+	5	628	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	MGRN1_ENST00000415496.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000262370.7_Missense_Mutation_p.D179Y|MGRN1_ENST00000586183.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000588994.1_Missense_Mutation_p.D179Y	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	179					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTCAAGATTGACTTCTCGGA	0.602000													29	40					2.12542e-12	2.68024e-12	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71008510	71008510	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71008510T>C	ENST00000318789.4	-	21	2447	c.1922A>G	c.(1921-1923)gAt>gGt	p.D641G	FOXP1_ENST00000493089.1_Missense_Mutation_p.D640G|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641G|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641G|FOXP1_ENST00000491238.1_Missense_Mutation_p.D643G|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565G|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	641					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTCCTCTGGATCGAGGGGCTC	0.498000			T	PAX5	ALL								21	45					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	272					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATACTTTTCGAAGCCTGAT	0.458000								Direct reversal of damage;Nucleotide excision repair (NER)					47	85					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69366640	69366640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69366640G>A	ENST00000342206.6	+	3	1139	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	IGBP1_ENST00000356413.4_Missense_Mutation_p.E214K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	214					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATTGACCAGGAAATAAAGAT	0.408000													14	35					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207414845G>T	ENST00000264377.3	+	9	1222	c.894G>T	c.(892-894)atG>atT	p.M298I	ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	298					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGAAATGAAATATTTGG	0.303000													6	16					0.0215528	0.0219788	1	1	0
STYX	6815	broad.mit.edu	37	14	53224469	53224469	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53224469C>A	ENST00000354586.4	+	7	642	c.349C>A	c.(349-351)Ctt>Att	p.L117I	STYX_ENST00000442123.2_Missense_Mutation_p.L117I|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	117	Tyrosine-protein phosphatase.				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318000													18	18					1.45105e-14	1.8931e-14	1	1	0
IGKV3-11	0	broad.mit.edu	37	2	89327160	89327160	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:89327160G>T	ENST00000483158.1	-	0	68																											AGGAGGAAGAGAAGCTGAGCT	0.527000													44	76					1.00953e-15	1.3341e-15	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57867888	57867888	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57867888G>T	ENST00000393797.2	-	19	2317	c.2125C>A	c.(2125-2127)Ctc>Atc	p.L709I	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L638I|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L435I|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L698I|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L619I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L619I			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	638	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTCCCGGAGAAAAAGCTTC	0.562000													15	22					3.45872e-05	3.78815e-05	1	1	0
BIN2	51411	broad.mit.edu	37	12	51695879	51695879	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51695879T>G	ENST00000267012.4	-	5	394	c.333A>C	c.(331-333)gaA>gaC	p.E111D	BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Missense_Mutation_p.E85D|BIN2_ENST00000604560.1_Missense_Mutation_p.E84D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	111	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCGTAGTCTTCCCAAAGGA	0.463000													4	36					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485761	42485761	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42485761A>G	ENST00000545399.1	-	11	1522	c.1369T>C	c.(1369-1371)Tct>Cct	p.S457P	ATP1A3_ENST00000543770.1_Missense_Mutation_p.S455P|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S444P|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S414P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	444					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCAGGGCAGACTCAGACGCA	0.572000													18	32					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124910539	124910539	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124910539A>G	ENST00000529051.1	+	16	3080	c.2821A>G	c.(2821-2823)Aat>Gat	p.N941D	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000344762.5_Missense_Mutation_p.N930D			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	930						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCCTGGGGGTAATTCAACTCT	0.368000													7	11					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890578	2890578	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2890578C>A	ENST00000254528.3	+	4	612	c.453C>A	c.(451-453)ttC>ttA	p.F151L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	151					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGCCAATTCTCAGAGCCCA	0.443000													21	54					1.2644e-06	1.4261e-06	1	1	0
TMX3	54495	broad.mit.edu	37	18	66365258	66365258	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66365258G>A	ENST00000299608.2	-	7	719	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	TMX3_ENST00000443099.2_Missense_Mutation_p.R108W|TMX3_ENST00000562706.1_Missense_Mutation_p.R135W	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	135					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GGAAGTGGCCGAATTAGAGCC	0.318000													12	21					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95813703	95813703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813703G>A	ENST00000416240.2	-	11	1256	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.R247*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.R355*	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTGCATTCGAGTTTTTACA	0.373000													19	25					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88666313	88666313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88666313C>T	ENST00000301011.5	+	6	1245	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	349						nucleus	nucleic acid binding|zinc ion binding	p.R349*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAAGTTTTTCGAGATTGGAA	0.488000													44	76					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													5	36					0	0	1	0	0
TEX11	0	broad.mit.edu	37	X	69890345	69890345	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69890345G>A	ENST00000395889.2	-	17	1462	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	TEX11_ENST00000374333.2_Missense_Mutation_p.A421V|TEX11_ENST00000374320.2_Missense_Mutation_p.A111V|TEX11_ENST00000344304.3_Missense_Mutation_p.A436V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	436							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCATTGTAGGGCATCAGTGTA	0.378000													13	33					0	0	1	0	0
UGT1A9	0	broad.mit.edu	37	2	234580906	234580906	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234580906T>G	ENST00000354728.4	+	1	408	c.326T>G	c.(325-327)tTa>tGa	p.L109*	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TATTCTCTATTAATGGGTTCA	0.338000													11	74					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94163031	94163031	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94163031C>T	ENST00000297273.4	+	7	832	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	182						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAGCGCTTTCTCAATATAAA	0.318000													6	33					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197898	74197898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:74197898G>T	ENST00000289473.4	+	7	675	c.605G>T	c.(604-606)cGa>cTa	p.R202L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	202	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						AAAGCAAAGCGAGGCTGGATC	0.637000													15	35					4.14922e-12	5.21015e-12	1	1	0
ZNF813	126017	broad.mit.edu	37	19	53989942	53989942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53989942C>A	ENST00000396403.4	+	3	200	c.72C>A	c.(70-72)tgC>tgA	p.C24*	ZNF813_ENST00000396421.4_Nonsense_Mutation_p.C24*	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGTGGAAATGCCTGGACCCTG	0.473000													32	109					9.39024e-22	1.29924e-21	1	1	0
CHST7	56548	broad.mit.edu	37	X	46433855	46433855	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:46433855C>T	ENST00000276055.3	+	1	637	c.489C>T	c.(487-489)tgC>tgT	p.C163C		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	163					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCTTCCGCTGCGACTTCTCCG	0.701000													18	28					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868634	73868634	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73868634C>T	ENST00000272425.3	-	2	271	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	41					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TATGAGGGTTCGAGGCAGCTT	0.622000													51	71					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47060346	47060346	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47060346C>T	ENST00000335972.6	+	6	717	c.534C>T	c.(532-534)ttC>ttT	p.F178F	UBA1_ENST00000377351.4_Silent_p.F178F	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	178	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGGTGAGTTCTGTCACAACC	0.632000													6	13					0	0	1	0	0
C1orf54	79630	broad.mit.edu	37	1	150248154	150248154	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150248154C>A	ENST00000369102.1	+	5	905	c.135C>A	c.(133-135)gaC>gaA	p.D45E	C1orf54_ENST00000369099.3_Missense_Mutation_p.D45E|C1orf54_ENST00000369098.3_Missense_Mutation_p.D45E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	45						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCAGATGACTTTAGTGCAG	0.333000													7	15					0.00307968	0.00320271	1	1	0
PRNP	5621	broad.mit.edu	37	20	4680119	4680119	+	Missense_Mutation	SNP	C	C	A	rs144328292		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4680119C>A	ENST00000379440.4	+	2	540	c.253C>A	c.(253-255)Cat>Aat	p.H85N	PRNP_ENST00000430350.2_Missense_Mutation_p.H85N	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	85	5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GGGACAGCCTCATGGTGGTGG	0.647000													15	59					6.31663e-08	7.35827e-08	1	1	0
IFT172	26160	broad.mit.edu	37	2	27700448	27700448	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27700448T>G	ENST00000260570.3	-	12	1302	c.1199A>C	c.(1198-1200)aAg>aCg	p.K400T	IFT172_ENST00000359466.6_Missense_Mutation_p.K400T|IFT172_ENST00000416524.2_Missense_Mutation_p.K379T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	400					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AAAGAAATACTTCTCATTGCC	0.403000													16	30					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82575144	82575144	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:82575144T>G	ENST00000339465.5	+	3	1007	c.938T>G	c.(937-939)tTt>tGt	p.F313C	FAM154B_ENST00000427381.2_Missense_Mutation_p.F298C|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	313										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTGGAAAATTTGATGGTTTG	0.393000													25	39					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153593318	153593318	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153593318C>T	ENST00000422373.1	-	12	1947	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000369850.3_Missense_Mutation_p.E567K|FLNA_ENST00000344736.4_Missense_Mutation_p.E567K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	567					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTCACTTCGAAGGGACTG	0.632000													9	171					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389205	48389205	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48389205G>A	ENST00000224600.4	-	1	1786	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	558	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGCCCAGCGACTGCATAAG	0.687000													26	51					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37287862	37287862	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37287862G>A	ENST00000233099.5	-	12	1806	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R571C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	571							binding	p.R571C(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGATGGTAACGAACGACAGAT	0.418000													31	38					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628302	29628302	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29628302A>C	ENST00000278882.3	+	6	684	c.304A>C	c.(304-306)Aaa>Caa	p.K102Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.K102Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.K107Q																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGCAAAAAGTAAAACAGCAGG	0.348000													4	92					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155180752	155180752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155180752C>A	ENST00000357232.3	-	20	5368	c.5369G>T	c.(5368-5370)aGc>aTc	p.S1790I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1790	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGTAAATGCTTTGTTCAAA	0.408000													33	56					4.74835e-14	6.14782e-14	1	1	0
DNAJC11	55735	broad.mit.edu	37	1	6712926	6712926	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6712926G>A	ENST00000377577.5	-	6	716	c.593C>T	c.(592-594)gCg>gTg	p.A198V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	198					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTCTGAGCGCAAAGTTAAT	0.463000													32	47					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	106002940	106002940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106002940C>T	ENST00000409177.1	-	2	503	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	FHL2_ENST00000393353.3_Missense_Mutation_p.E12K|FHL2_ENST00000393352.3_Missense_Mutation_p.E12K|FHL2_ENST00000322142.8_Missense_Mutation_p.E12K|FHL2_ENST00000344213.4_Missense_Mutation_p.E122K|FHL2_ENST00000607522.1_Missense_Mutation_p.E12K|FHL2_ENST00000358129.4_Missense_Mutation_p.E12K|FHL2_ENST00000336660.5_Missense_Mutation_p.E12K|FHL2_ENST00000408995.1_Missense_Mutation_p.E12K|FHL2_ENST00000409807.1_Missense_Mutation_p.E12K			Q14192	FHL2_HUMAN	four and a half LIM domains 2	12	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AAGAGAGATTCGTTGCAATGG	0.498000													25	64					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71368389	71368389	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71368389A>C	ENST00000244230.2	+	7	1688	c.1336A>C	c.(1336-1338)Aaa>Caa	p.K446Q		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	446					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ACGTAAAGAAAAACCTAAAGA	0.343000													55	107					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55076927	55076927	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55076927G>A	ENST00000505374.1	+	9	622	c.530G>A	c.(529-531)cGc>cAc	p.R177H	DDX4_ENST00000354991.5_Missense_Mutation_p.R143H|DDX4_ENST00000514278.2_Missense_Mutation_p.R157H|DDX4_ENST00000511853.1_Missense_Mutation_p.R44H|DDX4_ENST00000353507.5_Missense_Mutation_p.R143H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	177	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTATGCAGCGCACTGGTGGC	0.338000													14	34					0	0	1	0	0
PCDHB15	0	broad.mit.edu	37	5	140627280	140627280	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140627280C>T	ENST00000231173.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		712					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCAGTGCGGCTGTGCAG	0.672000													83	168					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1276394	1276394	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1276394C>T	ENST00000447027.1	+	36	15855	c.15797C>T	c.(15796-15798)cCg>cTg	p.P5266L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P5263L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5263	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCTGGGCCCCGACTGGCACA	0.672000													6	12					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79650668	79650668	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79650668T>G	ENST00000275034.4	-	40	5375	c.5208A>C	c.(5206-5208)aaA>aaC	p.K1736N	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1736					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)		TCCTTAACACTTTGACACTTG	0.393000													26	67					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416558	121416558	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121416558C>T	ENST00000393667.3	-	13	2922	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E933K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	933					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGCTGTTCTTTAAGAGTC	0.348000													7	64					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149679780	149679780	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149679780G>A	ENST00000435030.1	+	2	569	c.201G>A	c.(199-201)gcG>gcA	p.A67A				O60282	KIF5C_HUMAN	kinesin family member 5C	67	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATGCATGTGCGAAGCAAATTG	0.413000													15	20					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3680364	3680364	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3680364A>G	ENST00000294600.2	+	8	1500	c.1416A>G	c.(1414-1416)cgA>cgG	p.R472R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	472										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGCTCCGAGAGCGGAGGC	0.567000													34	43					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766449	88766449	+	Silent	SNP	C	C	T	rs145299039	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766449C>T	ENST00000497649.2	+	6	735	c.357C>T	c.(355-357)ggC>ggT	p.G119G	MEPE_ENST00000560249.1_Silent_p.G30G|MEPE_ENST00000361056.3_Silent_p.G143G|MEPE_ENST00000540395.1_Silent_p.G30G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Silent_p.G174G|MEPE_ENST00000424957.3_Silent_p.G143G			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	143					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGAATATGGCGCAGCTCTCA	0.428000													29	49					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	673156	673156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:673156G>A	ENST00000301329.6	-	8	869	c.784C>T	c.(784-786)Cga>Tga	p.R262*	GLOD4_ENST00000536578.1_Nonsense_Mutation_p.R253*|GLOD4_ENST00000301328.5_Nonsense_Mutation_p.R277*	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	277						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAAAGTTCTCGAAATGCTTCA	0.448000													18	36					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38025037	38025037	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38025037C>T	ENST00000296218.7	+	3	413	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	113					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCAGCAGCGGCAGGCCAG	0.592000													21	35					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104801000	104801000	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104801000T>G	ENST00000357311.3	-	6	713	c.542A>C	c.(541-543)aAc>aCc	p.N181T	SRPK2_ENST00000393651.3_Missense_Mutation_p.N192T|SRPK2_ENST00000489828.1_Missense_Mutation_p.N181T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	181	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCCTTGATAGTTGGATTTGAT	0.493000													23	34					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761114	121761114	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121761114C>T	ENST00000261367.7	+	7	2639	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.A357V|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Silent_p.C66C			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	357					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTACATATTGCGGCGTCACAG	0.453000													41	96					0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228416723	228416723	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228416723C>A	ENST00000310078.7	+	11	1687	c.1427C>A	c.(1426-1428)aCt>aAt	p.T476N	AGFG1_ENST00000373671.3_Missense_Mutation_p.T436N|AGFG1_ENST00000409979.2_Missense_Mutation_p.T500N|AGFG1_ENST00000409315.1_Missense_Mutation_p.T455N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T476N	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	476					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGATTCGGCACTCCTGCTCCC	0.507000													5	110					0.217242	0.218251	1	1	0
SNAPC1	6617	broad.mit.edu	37	14	62249055	62249055	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:62249055A>G	ENST00000216294.4	+	8	1020	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	306					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGCAACTAGGAAAAAAGAGAA	0.388000													16	26					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453042	100453042	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453042A>C	ENST00000279907.7	-	14	2225	c.2013T>G	c.(2011-2013)atT>atG	p.I671M	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I321M	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	671										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCTTTATAAATTTCATGCA	0.338000													25	39					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004777	25004777	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:25004777C>T	ENST00000533227.1	+	9	732	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	LUZP2_ENST00000336930.6_Missense_Mutation_p.R235W	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	235						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAATCCAACTCGGATGTTACT	0.453000													24	57					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970231	63970231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63970231G>A	ENST00000443617.2	-	37	6970	c.6883C>T	c.(6883-6885)Cag>Tag	p.Q2295*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2295					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCCTCAGCTGCAGCTCTGAG	0.512000													39	59					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865362	57865362	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57865362A>G	ENST00000228682.2	+	12	2930	c.2839A>G	c.(2839-2841)Aca>Gca	p.T947A	GLI1_ENST00000543426.1_Missense_Mutation_p.T819A|GLI1_ENST00000546141.1_Missense_Mutation_p.T906A	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	947					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCAGTGAACACATATGGACC	0.547000													32	59					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364261	22364261	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364261G>T	ENST00000397121.2	-	3	575	c.258C>A	c.(256-258)acC>acA	p.T86T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATCCACATTGGTACAACTAA	0.333000													24	52					1.64293e-13	2.10822e-13	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56031269	56031269	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031269C>A	ENST00000309675.2	+	1	626	c.594C>A	c.(592-594)atC>atA	p.I198I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGAGCGAGATCTCCGTGATGA	0.537000													52	79					1.07234e-20	1.47176e-20	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173962048	173962048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173962048G>A	ENST00000367696.2	-	2	427	c.76C>T	c.(76-78)Cga>Tga	p.R26*	RC3H1_ENST00000367694.2_Nonsense_Mutation_p.R26*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.R26*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	26					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATGGGCTTTCGAATTGTTTCG	0.473000													6	77					0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54717490	54717490	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54717490G>T	ENST00000371320.3	-	8	961	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	SSBP3_ENST00000417664.2_Missense_Mutation_p.S74Y|SSBP3_ENST00000371319.3_Missense_Mutation_p.S157Y|SSBP3_ENST00000357475.4_Missense_Mutation_p.S164Y|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	184	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GGGATCCATAGAATTGGGCAG	0.622000													7	25					0.0293803	0.0299069	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745053	37745053	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37745053T>C	ENST00000539465.1	+	16	3617	c.3024T>C	c.(3022-3024)caT>caC	p.H1008H	FRMPD1_ENST00000377765.3_Silent_p.H1008H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1008						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCATAGAGCATGGAGACAGCT	0.532000													29	130					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42361621	42361621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:42361621C>A	ENST00000379310.3	-	18	2190	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.E708*	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTATTTATTTCTATTGTAGCA	0.353000													10	20					7.03913e-09	8.36985e-09	1	1	0
SSX1	6756	broad.mit.edu	37	X	48125776	48125776	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48125776T>G	ENST00000376919.3	+	7	657	c.521T>G	c.(520-522)cTg>cGg	p.L174R		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGAAAGCAGCTGGTGATTTAT	0.502000			T	SS18	synovial sarcoma								11	363					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8989562	8989562	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8989562A>C	ENST00000344836.4	-	27	3054	c.2856T>G	c.(2854-2856)gtT>gtG	p.V952V	USP7_ENST00000535863.1_Silent_p.V853V|USP7_ENST00000381886.4_Silent_p.V936V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	952					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTCTTGATGAACACCAATGA	0.363000													7	22					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20825862	20825862	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20825862C>G	ENST00000250416.5	+	16	1685	c.1658C>G	c.(1657-1659)aCc>aGc	p.T553S	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540S	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GATGGTTATACCCTCAACTAC	0.413000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					17	54					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099941	110099941	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110099941T>C	ENST00000518632.1	+	2	551	c.200T>C	c.(199-201)cTg>cCg	p.L67P	TRHR_ENST00000311762.2_Missense_Mutation_p.L67P			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	67						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTGGTGAGCCTGGCAGTAGCT	0.527000													27	63					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83127903	83127903	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83127903A>C	ENST00000329312.4	+	4	224	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	63					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGACATGACAAAAGAAAACT	0.318000													5	15					0	0	1	0	0
ZNF724P	0	broad.mit.edu	37	19	23405890	23405890	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23405890C>A	ENST00000418100.1	-	4	1274	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AGTATGAATTCTCTTATGTTG	0.388000													17	22					1.15088e-07	1.32965e-07	1	1	0
NELL1	4745	broad.mit.edu	37	11	20940848	20940848	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20940848T>C	ENST00000298925.5	+	8	964	c.811T>C	c.(811-813)Tta>Cta	p.L271L	NELL1_ENST00000532434.1_Silent_p.L243L|NELL1_ENST00000357134.5_Silent_p.L243L|NELL1_ENST00000325319.5_Silent_p.L186L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	243	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATAATGGATTTACAAGAGCT	0.323000													12	41					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494405	71494405	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71494405C>T	ENST00000296755.7	+	5	5521	c.5223C>T	c.(5221-5223)atC>atT	p.I1741I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1741						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTCTCAGATCGCTTCTCCTC	0.488000													50	80					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32315743	32315743	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32315743T>G	ENST00000281081.7	+	9	805	c.760T>G	c.(760-762)Ttt>Gtt	p.F254V	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.F158V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	254					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AACTCATATTTTTGGTGCTGA	0.383000													9	12					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411468	126411468	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126411468G>T	ENST00000394329.3	+	17	13504	c.13491G>T	c.(13489-13491)gaG>gaT	p.E4497D	FAT4_ENST00000335110.5_Missense_Mutation_p.E2738D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					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						GCCCTGAAGAGATCTCTCTGC	0.607000													47	74					8.86878e-18	1.19361e-17	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124345687	124345687	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124345687A>C	ENST00000338354.3	+	16	1677	c.1571A>C	c.(1570-1572)gAc>gCc	p.D524A	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D524A|DMBT1_ENST00000344338.3_Missense_Mutation_p.D514A|DMBT1_ENST00000368955.3_Missense_Mutation_p.D514A|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	524	SRCR 4.				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)				GACAGCTGGGACACCAATGAT	0.612000													156	558					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62670691	62670691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:62670691C>T	ENST00000337910.5	-	4	587	c.250G>A	c.(250-252)Gat>Aat	p.D84N	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D84N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	84	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCAAAAGTATCCCAAAGCCTG	0.463000													20	27					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140750455	140750455	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140750455A>C	ENST00000576222.1	+	1	625	c.494A>C	c.(493-495)aAt>aCt	p.N165T	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_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)			GTAGGTGTCAATTCGCTGCAG	0.498000													81	166					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241660374	241660374	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241660374A>G	ENST00000498729.2	-	45	5071	c.4825T>C	c.(4825-4827)Tgc>Cgc	p.C1609R	KIF1A_ENST00000320389.7_Missense_Mutation_p.C1508R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1508	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGAGGGGCAAGTGGAGGAG	0.647000													9	11					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046078	201046078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201046078G>A	ENST00000362061.3	-	12	2023	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N	CACNA1S_ENST00000367338.3_Silent_p.N599N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	599					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGGGGAAAGTTGTCAAAGT	0.532000													40	95					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523395	100523395	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100523395A>G	ENST00000358544.2	+	29	4474	c.4363A>G	c.(4363-4365)Aaa>Gaa	p.K1455E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1430E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1455					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)			GACATACACAAAAGCTGTAAC	0.378000													22	42					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31231670	31231670	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31231670G>T	ENST00000255304.4	+	9	1798	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	486					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAAGAAATTTGAAGTTCCTGC	0.373000													20	41					0.0438628	0.0445521	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319491	21319491	+	Silent	SNP	G	G	A	rs111560549	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21319491G>A	ENST00000583088.1	+	3	1732	c.837G>A	c.(835-837)ccG>ccA	p.P279P	KCNJ12_ENST00000331718.5_Silent_p.P279P	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGGCCAGCCCGCTCTTCGGCA	0.607000										Prostate(3;0.18)			24	91					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995240	183995240	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183995240T>C	ENST00000402825.3	+	4	818	c.818T>C	c.(817-819)cTg>cCg	p.L273P	ECE2_ENST00000404464.3_Missense_Mutation_p.L155P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.L126P|ECE2_ENST00000357474.5_Missense_Mutation_p.L201P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	273	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCATACTGAAGCACCTG	0.602000													20	33					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62374545	62374545	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62374545A>C	ENST00000394773.2	-	12	1696	c.1389T>G	c.(1387-1389)ccT>ccG	p.P463P	EML3_ENST00000278845.4_Silent_p.P464P|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.P246P|EML3_ENST00000494176.2_Silent_p.P435P|EML3_ENST00000529309.1_Silent_p.P463P	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	463						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACACAAAGCAAGGGATAAACT	0.527000													25	58					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771072	229771072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229771072G>T	ENST00000258243.2	+	4	848	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	238						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						GAGTCAGATTGAGGCCATGTT	0.602000													4	84					0.00909568	0.00935351	1	1	0
MRPL44	65080	broad.mit.edu	37	2	224822309	224822309	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:224822309C>A	ENST00000258383.3	+	1	189	c.120C>A	c.(118-120)cgC>cgA	p.R40R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	40					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCTTCCGCTTCCAGAAGG	0.692000													10	35					2.17888e-05	2.39107e-05	1	1	0
DUSP13	0	broad.mit.edu	37	10	76868869	76868869	+	Translation_Start_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:76868869G>A	ENST00000491677.2	-	0	101				DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|DUSP13_ENST00000372702.3_Missense_Mutation_p.T16M|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.T16M	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13							cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGGGCAAGGCGTGGCTTTGTC	0.627000													19	33					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93169899	93169899	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93169899C>T	ENST00000322349.8	-	29	4388	c.4124G>A	c.(4123-4125)cGa>cAa	p.R1375Q		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1375					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCCACACTGTCGGCAGTGATG	0.358000													9	28					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86951095	86951095	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86951095C>A	ENST00000234701.3	+	7	1156	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L269I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	269					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAAATGCAATCTCCGAAGCAC	0.378000													30	51					5.45727e-16	7.22369e-16	1	1	0
INTS8	55656	broad.mit.edu	37	8	95837290	95837290	+	Missense_Mutation	SNP	G	G	T	rs141032302	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95837290G>T	ENST00000523731.1	+	2	433	c.300G>T	c.(298-300)gaG>gaT	p.E100D	INTS8_ENST00000447247.1_Missense_Mutation_p.E100D	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	100					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACATATTAGAGAAAAGGTATC	0.318000													13	30					0.000151284	0.00016287	1	1	0
ACAN	176	broad.mit.edu	37	15	89401045	89401045	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89401045T>C	ENST00000439576.2	+	12	5603	c.5229T>C	c.(5227-5229)ccT>ccC	p.P1743P	ACAN_ENST00000352105.7_Silent_p.P1743P|ACAN_ENST00000559004.1_Silent_p.P1743P|ACAN_ENST00000561243.1_Silent_p.P1743P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1743					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)			CAGGGTTTCCTGACACTAGTG	0.512000													52	99					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6358759	6358759	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6358759C>T	ENST00000262483.8	-	20	2911	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	ACKR6_ENST00000421306.3_Missense_Mutation_p.E906K|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					TGGGCCCGCTCGGGCTTGGGG	0.726000													16	33					0	0	1	0	0
IGKV1-17	0	broad.mit.edu	37	2	89417282	89417282	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:89417282G>A	ENST00000490686.1	-	0	53																											GGAGCCCCAGGAGCTGAGCGG	0.537000													63	164					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47200581C>T	ENST00000296861.2	-	6	2281	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	630					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493000													73	117					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228884217G>A	ENST00000392056.3	-	7	1399	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_ENST00000344657.5_Silent_p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507000													26	58					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135741501	135741501	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135741501T>G	ENST00000370629.2	+	5	769	c.713T>G	c.(712-714)tTt>tGt	p.F238C	CD40LG_ENST00000370628.2_Missense_Mutation_p.F217C	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	238					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GCTTCGGTGTTTGTCAATGTG	0.502000									Immune Deficiency with Hyper-IgM				63	125					0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128692040	128692040	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:128692040G>A	ENST00000373487.4	+	4	703	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PBX3_ENST00000447726.2_Missense_Mutation_p.R133Q|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.R27Q|PBX3_ENST00000373489.5_Missense_Mutation_p.R208Q|PBX3_ENST00000342287.5_Missense_Mutation_p.R208Q			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	208					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ATCATCCATCGAAAATTTAGT	0.393000													9	85					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175306891	175306891	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175306891G>T	ENST00000392552.2	-	14	2368	c.2130C>A	c.(2128-2130)atC>atA	p.I710I	GPR155_ENST00000392551.2_Silent_p.I710I|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.I710I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	710					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTAATCCAAAGATTCCAAAGG	0.279000													11	39					3.07112e-06	3.42433e-06	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1467357	1467357	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1467357A>G	ENST00000331035.4	+	4	566	c.217A>G	c.(217-219)Att>Gtt	p.I73V	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	73						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTTTGGAGCAATTTCCTTATG	0.453000													94	166					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699046	48699046	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48699046C>T	ENST00000544264.1	-	1	1302	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	CELSR3_ENST00000164024.4_Missense_Mutation_p.G341D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	341	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCGCGGTGCCTGCTGCCTC	0.682000													40	75					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105190310	105190310	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105190310T>G	ENST00000428173.2	+	26	4513	c.4210T>G	c.(4210-4212)Ttt>Gtt	p.F1404V	NRK_ENST00000243300.9_Missense_Mutation_p.F1403V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1403	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCACAGGTATTTCCAACACT	0.368000										HNSCC(51;0.14)			5	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584511	179584511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179584511C>T	ENST00000589042.1	-	82	23932	c.23708G>A	c.(23707-23709)gGa>gAa	p.G7903E	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7586E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7586	Ig-like 61.						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)			AAAAGGATTTCCAGTAGTGAC	0.408000													10	18					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811443	44811443	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44811443C>A	ENST00000260327.4	+	11	1752	c.1189C>A	c.(1189-1191)Ctt>Att	p.L397I	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L397I	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	397	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TGGAAGAGATCTTTCAAAAAC	0.313000													17	29					3.52763e-06	3.92945e-06	1	1	0
FBN3	84467	broad.mit.edu	37	19	8191614	8191614	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8191614G>T	ENST00000600128.1	-	19	2813	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	FBN3_ENST00000601739.1_Missense_Mutation_p.S800Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S800Y			Q75N90	FBN3_HUMAN	fibrillin 3	800	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGGTACCAGAGGGGTCCAG	0.667000													21	39					8.34094e-07	9.42356e-07	1	1	0
OR13J1	392309	broad.mit.edu	37	9	35869824	35869824	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35869824G>A	ENST00000377981.2	-	1	637	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGACCGACGTGTTGCCGCA	0.597000													25	50					0	0	1	0	0
RIMS1	0	broad.mit.edu	37	6	72945357	72945357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72945357C>T	ENST00000264839.7	+	8	1783	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R54*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R595*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R69*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R69*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	595					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGGGGGACCGATTAATTGG	0.368000													3	18					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126137314	126137314	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126137314G>A	ENST00000393425.1	+	6	534	c.435G>A	c.(433-435)gaG>gaA	p.E145E	CCDC37_ENST00000505024.1_Silent_p.E145E|CCDC37_ENST00000352312.1_Silent_p.E144E			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	144										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAATGTGGAGCCTGAGAACA	0.612000													28	61					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5766116	5766116	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5766116G>A	ENST00000381624.3	+	17	1570	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	CATSPERD_ENST00000381614.2_Silent_p.S161S|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	503						integral to membrane											CTCTGCAGTCGACACTGATTT	0.522000													14	23					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121355981	121355981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121355981C>A	ENST00000339397.4	+	6	623	c.551C>A	c.(550-552)tCa>tAa	p.S184*		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATACATAATTCAAAGGAAAAA	0.358000													15	32					1.49906e-05	1.64923e-05	1	1	0
AZGP1	563	broad.mit.edu	37	7	99564860	99564860	+	Missense_Mutation	SNP	C	C	A	rs71696698		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99564860C>A	ENST00000292401.4	-	4	799	c.663G>T	c.(661-663)aaG>aaT	p.K221N	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	221	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACTTCAGTTTCTTCTTTTCTC	0.582000													8	20					5.4927e-09	6.54492e-09	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179380300	179380300	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179380300G>T	ENST00000367618.3	+	12	1516	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	AXDND1_ENST00000457238.2_Missense_Mutation_p.D377Y|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	377										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAATATCATGACTTATATAC	0.279000													24	57					4.72057e-08	5.51616e-08	1	1	0
DDX4	54514	broad.mit.edu	37	5	55109548	55109548	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55109548T>G	ENST00000505374.1	+	19	1755	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	DDX4_ENST00000354991.5_Missense_Mutation_p.F521V|DDX4_ENST00000514278.2_Missense_Mutation_p.F535V|DDX4_ENST00000511853.1_Missense_Mutation_p.F406V|DDX4_ENST00000353507.5_Missense_Mutation_p.F521V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	555	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AAAAGCAGATTTTATTGCAAC	0.289000													42	61					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33867534	33867534	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33867534C>T	ENST00000374450.3	-	6	827	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	EIF6_ENST00000374436.3_Missense_Mutation_p.R188Q|EIF6_ENST00000374443.3_Missense_Mutation_p.R169Q|RP4-614O4.11_ENST00000444717.1_RNA	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	188					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCACTGCCTCGGTTCACAGT	0.577000													23	91					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964251	88964251	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964251G>T	ENST00000333190.4	+	4	2564	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	652						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAAGATGAAAGACAATTCAAC	0.398000										HNSCC(36;0.09)			24	38					2.44723e-14	3.18537e-14	1	1	0
POTEE	445582	broad.mit.edu	37	2	132020932	132020932	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:132020932C>A	ENST00000356920.5	+	15	1998	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	635							ATP binding										ACTTAGCTTTCTCTTAGTTGT	0.323000													6	15					1.12685e-05	1.24509e-05	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	140922403	140922403	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:140922403G>A	ENST00000389328.4	-	20	3260	c.3246C>T	c.(3244-3246)atC>atT	p.I1082I	TRAPPC9_ENST00000389327.3_Silent_p.I975I|TRAPPC9_ENST00000438773.2_Silent_p.I984I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	984					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTCTCCAGCAGATGCCCAGCT	0.602000													34	59					0	0	1	0	0
ATF3	467	broad.mit.edu	37	1	212792760	212792760	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:212792760A>C	ENST00000341491.4	+	4	674	c.409A>C	c.(409-411)Aac>Cac	p.N137H	ATF3_ENST00000366987.2_Missense_Mutation_p.N137H|ATF3_ENST00000366985.1_Missense_Mutation_p.N80H|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366983.1_3'UTR	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	137	Leucine-zipper.					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		GGAGCTCAAGAACGAGAAGCA	0.502000													40	65					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87196193	87196193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87196193T>G	ENST00000265724.3	-	7	855	c.438A>C	c.(436-438)aaA>aaC	p.K146N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	146	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTTTCTAATTTTGTGTATTT	0.433000													18	40					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752332	62752332	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:62752332C>A	ENST00000331425.6	-	0	1103					NR_003952.1																						TGTAGGGTTTCTCTCCAGTAT	0.423000													15	30					2.98522e-18	4.04089e-18	1	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713498	142713498	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:142713498C>A	ENST00000369381.2	-	0	1107																											TTTTAGGTTTCTTTCTGTTTT	0.353000													14	49					1.56452e-12	1.97515e-12	1	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42275988	42275988	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42275988C>A	ENST00000399518.3	-	20	3057	c.2571G>T	c.(2569-2571)gaG>gaT	p.E857D	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E828D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	845					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTTCTTCTTCTCCACTGCGA	0.562000													10	11					2.17888e-05	2.39107e-05	1	1	0
ERC2	26059	broad.mit.edu	37	3	56468777	56468777	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468777T>G	ENST00000288221.6	-	2	514	c.259A>C	c.(259-261)Aat>Cat	p.N87H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	87						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACAGCTCGATTTGTAGCCCTT	0.502000													50	107					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134162645	134162645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:134162645G>T	ENST00000452510.2	+	22	3144	c.2986G>T	c.(2986-2988)Gaa>Taa	p.E996*	DDX46_ENST00000354283.4_Nonsense_Mutation_p.E995*	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	995					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCCAATGAACTGGCTGT	0.413000													5	17					0.184627	0.185817	1	1	0
ZNF366	0	broad.mit.edu	37	5	71756207	71756207	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71756207C>T	ENST00000318442.5	-	2	1607	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGGGGAAGTCGAGGCCGCAC	0.657000													20	35					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67943867	67943867	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67943867C>T	ENST00000252336.6	+	13	3230	c.2858C>T	c.(2857-2859)tCg>tTg	p.S953L	STARD8_ENST00000374597.3_Missense_Mutation_p.S953L|STARD8_ENST00000374599.3_Missense_Mutation_p.S1033L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	953	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTGCCAGAGTCGGGTGTGCGA	0.617000													22	39					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107548664	107548664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107548664C>A	ENST00000374736.3	-	48	6710	c.6316G>T	c.(6316-6318)Gaa>Taa	p.E2106*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2106	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTTCACATTCTTCCATACTG	0.413000													21	44					7.41877e-09	8.8016e-09	1	1	0
TAF5	6877	broad.mit.edu	37	10	105147069	105147069	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147069T>C	ENST00000369839.3	+	9	1990	c.1967T>C	c.(1966-1968)gTc>gCc	p.V656A	TAF5_ENST00000351396.4_Missense_Mutation_p.V601A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	656					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTCTGGGACGTCCTGAATGGT	0.413000													6	44					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842753	7842753	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7842753G>T	ENST00000329913.3	-	2	863	c.816C>A	c.(814-816)aaC>aaA	p.N272K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	272					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTCCCGGAAGTTAATGAATA	0.532000													32	58					1.61788e-16	2.15322e-16	1	1	0
RNF2	6045	broad.mit.edu	37	1	185069003	185069003	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185069003G>A	ENST00000367510.3	+	6	1106	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	RNF2_ENST00000367509.4_Missense_Mutation_p.R201Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	273					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAAGAACTTCGAAGCAAAGGT	0.393000													27	52					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65231096	65231096	+	Missense_Mutation	SNP	G	G	A	rs140402535		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:65231096G>A	ENST00000234256.3	+	3	823	c.580G>A	c.(580-582)Gat>Aat	p.D194N	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	194					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GTATGCAACCGATTATAAAGT	0.408000													4	32					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42173742	42173742	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42173742G>A	ENST00000520810.1	+	10	1001	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	IKBKB_ENST00000379708.3_Missense_Mutation_p.R49Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R270Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R213Q|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	272	Protein kinase.				anti-apoptosis|innate immune response|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 transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTGGCTGAGCGACTGGAGAAG	0.587000													18	34					0	0	1	0	0
GID4	79018	broad.mit.edu	37	17	17957474	17957474	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17957474G>A	ENST00000268719.4	+	3	705	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GID4_ENST00000376345.3_Missense_Mutation_p.E178K	NM_024052.4	NP_076957.3			GID complex subunit 4																		CTTCGAAGGAGAAATAATCAG	0.388000													28	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596285	179596285	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596285G>A	ENST00000589042.1	-	59	17432	c.17208C>T	c.(17206-17208)atC>atT	p.I5736I	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I4492I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.I5419I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5419	Ig-like 38.						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)			TGGTACTCTCGATCTTCTTTA	0.448000													9	30					0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15789927	15789927	+	Missense_Mutation	SNP	G	G	A	rs140151330	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15789927G>A	ENST00000359621.4	+	5	428	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	135	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCCCTCACCGACAAGATCCA	0.602000													38	94					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2573541	2573541	+	Missense_Mutation	SNP	G	G	A	rs121434487		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2573541G>A	ENST00000397195.5	+	6	935	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	162	Interaction with dynein and dynactin.		G -> S (in LIS1; dbSNP:rs28936410).		acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CGACCACAGCGGCAAGCTTCT	0.448000													40	107					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177339	20177339	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:20177339G>A	ENST00000245957.5	+	16	1792	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	572										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTACACCAAGTTCTTTCTGA	0.458000													26	44					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155743877	155743877	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155743877G>T	ENST00000159060.2	-	10	1361	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	420							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTACCATATAGATTTCAGAAG	0.498000													42	69					6.48837e-15	8.49851e-15	1	1	0
MAGEA6	4105	broad.mit.edu	37	X	151869775	151869775	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151869775C>T	ENST00000329342.5	+	3	690	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	155	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAAGCTTCCGATTCCTTGC	0.552000													46	126					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212755	21212755	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:21212755G>A	ENST00000602326.1	-	17	2796	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	EIF4G3_ENST00000374935.3_Missense_Mutation_p.A452V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A732V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A738V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A336V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A732V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A222V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	732	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCTTCCAGGCATTTTCTGC	0.418000													15	152					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32637489	32637489	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:32637489C>T	ENST00000335185.5	-	15	1415	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	458										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTTACCATCTATAATTATT	0.269000													6	17					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44117685	44117685	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44117685T>C	ENST00000259746.9	+	16	1686	c.1503T>C	c.(1501-1503)ttT>ttC	p.F501F	TMEM63B_ENST00000323267.6_Silent_p.F501F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	501						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCCTTCTTTGAAGCCCACT	0.597000													5	21					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626542	55626542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55626542C>A	ENST00000373965.2	-	28	3992	c.3598G>T	c.(3598-3600)Gaa>Taa	p.E1200*	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E804*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1122*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1171*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1156*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1193	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAATCCTTCTTTTCCCTCT	0.378000										HNSCC(58;0.16)			25	29					4.26978e-12	5.35675e-12	1	1	0
SVIL	6840	broad.mit.edu	37	10	29769557	29769557	+	Silent	SNP	G	G	A	rs150357239	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:29769557G>A	ENST00000375398.2	-	31	5735	c.5286C>T	c.(5284-5286)ttC>ttT	p.F1762F	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.F676F|SVIL_ENST00000375400.3_Silent_p.F1336F|SVIL_ENST00000355867.4_Silent_p.F1762F|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Silent_p.F554F|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	1762					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTATAGTCGAATTCCAGGA	0.557000													38	65					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39681143	39681143	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39681143G>A	ENST00000361566.3	-	3	672	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_002276.4	NP_002267.2			keratin 19									p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCAGGCCTTCGATCTGCATCT	0.607000													60	93					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98015142	98015142	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:98015142A>G	ENST00000370192.3	-	12	1598	c.1498T>C	c.(1498-1500)Tct>Cct	p.S500P		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	500					'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)	ATGTACCAAGAAGCTTGCTTT	0.388000													20	28					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942994	10942994	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10942994C>T	ENST00000298232.7	-	11	906	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE_ENST00000342420.5_Missense_Mutation_p.R160Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R198Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAATAAGTCGTAGAAGTCG	0.308000													6	44					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52469436	52469436	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52469436T>G	ENST00000356297.4	-	4	444	c.344A>C	c.(343-345)aAg>aCg	p.K115T	PXDNL_ENST00000543296.1_Missense_Mutation_p.K115T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	115					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)				AAATGTTTGCTTATCTAGTGC	0.284000													15	24					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136268898	136268898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136268898G>T	ENST00000371957.3	+	15	1656	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	C9orf96_ENST00000371955.1_Missense_Mutation_p.D50Y	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	517							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTACCCTGCGGATGGGGAAAT	0.652000													10	22					0.00621372	0.0064192	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19656250	19656250	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19656250G>T	ENST00000438132.3	+	23	2223	c.2175G>T	c.(2173-2175)ttG>ttT	p.L725F	C16orf62_ENST00000251143.5_Missense_Mutation_p.L636F|C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	636						integral to membrane		p.L636F(1)|p.L725F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCATATTTGATTAATGGAT	0.318000													16	30					3.35478e-16	4.45534e-16	1	1	0
LYN	4067	broad.mit.edu	37	8	56882318	56882318	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56882318T>C	ENST00000520220.2	+	10	1227	c.953T>C	c.(952-954)gTg>gCg	p.V318A	LYN_ENST00000519728.1_Missense_Mutation_p.V339A|LYN_ENST00000420292.1_3'UTR	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	339	Protein kinase.				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)			GGTGGCAAAGTGCTGCTTCCA	0.428000													21	52					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430316	135430316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135430316G>T	ENST00000394143.1	+	6	4742	c.4451G>T	c.(4450-4452)aGg>aTg	p.R1484M	GPR112_ENST00000287534.4_Missense_Mutation_p.R1421M|GPR112_ENST00000370652.1_Missense_Mutation_p.R1484M|GPR112_ENST00000412101.1_Missense_Mutation_p.R1279M|GPR112_ENST00000394141.1_Missense_Mutation_p.R1279M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCTCCGACAGGATCACTACA	0.443000													13	114					7.93312e-07	8.98086e-07	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154098814	154098814	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154098814G>T	ENST00000368559.3	-	10	1382	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	NUP210L_ENST00000271854.3_Silent_p.T437T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	437						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AAATGATGGAGGTCAGGGATG	0.393000													21	64					7.45023e-12	9.31775e-12	1	1	0
IGLV3-22	0	broad.mit.edu	37	22	23047257	23047257	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:23047257G>A	ENST00000390307.2	+	0	359																											GGTCCTGACCGAAGACGAGGC	0.522000													14	40					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53764549	53764549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53764549G>T	ENST00000288139.3	+	17	2480	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E768*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E768*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	768					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCAGAAAGAAGAAGCGGAAGA	0.453000													15	39					1.05317e-09	1.27574e-09	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38936224	38936224	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38936224C>T	ENST00000302328.3	-	15	2833	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D879N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	879					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAATGATGTCTTTGCTTTGT	0.507000													24	48					0	0	1	0	0
ISG20	3669	broad.mit.edu	37	15	89198710	89198710	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89198710C>T	ENST00000306072.5	+	4	852	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ISG20_ENST00000560741.1_Missense_Mutation_p.S165F|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	165					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TATCAAATCTCCCAGAGAATC	0.587000													20	33					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018402	154018402	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018402T>G	ENST00000496811.1	-	11	1522	c.1442A>C	c.(1441-1443)tAc>tCc	p.Y481S	DHX36_ENST00000544526.1_Missense_Mutation_p.Y481S|DHX36_ENST00000329463.5_Missense_Mutation_p.Y481S|DHX36_ENST00000308361.6_Missense_Mutation_p.Y481S	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	481	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAACAATGTATCGGATGAG	0.299000													13	24					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70742520	70742520	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70742520C>T	ENST00000370944.4	-	10	1536	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R373Q	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	408					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGACTGTCTTCGAATCGGCTG	0.313000													22	29					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7873611	7873611	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7873611C>A	ENST00000264668.2	+	3	366	c.336C>A	c.(334-336)ttC>ttA	p.F112L	MTRR_ENST00000440940.2_Missense_Mutation_p.F85L|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	112	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGTTGATTTCTTTGCTCACC	0.448000													30	55					5.77227e-19	7.83808e-19	1	1	0
C8B	732	broad.mit.edu	37	1	57415369	57415369	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57415369T>C	ENST00000543257.1	-	7	1133	c.567A>G	c.(565-567)gaA>gaG	p.E189E	C8B_ENST00000371237.4_Silent_p.E241E|C8B_ENST00000535057.1_Silent_p.E179E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	241	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACATTGCGTTCAAAATCTG	0.333000													10	20					0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173020022	173020022	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173020022G>T	ENST00000404377.3	-	1	81	c.81C>A	c.(79-81)caC>caA	p.H27Q	TNFSF18_ENST00000239468.2_Missense_Mutation_p.H5Q|RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	27					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TATTTTCCAAGTGGCTCAAAC	0.383000													16	15					0.000308642	0.000328443	1	1	0
RPL12P38	0	broad.mit.edu	37	17	58512722	58512722	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58512722C>T	ENST00000588627.1	-	0	635																											CAGACAACCTCGCGGATCTTT	0.512000													12	13					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27347537	27347537	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:27347537A>G	ENST00000358918.3	-	11	1503	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	APP_ENST00000448388.2_Missense_Mutation_p.F325S|APP_ENST00000348990.5_Missense_Mutation_p.F360S|APP_ENST00000357903.3_Missense_Mutation_p.F416S|APP_ENST00000440126.3_Missense_Mutation_p.F411S|APP_ENST00000346798.3_Missense_Mutation_p.F435S|APP_ENST00000354192.3_Missense_Mutation_p.F304S|APP_ENST00000359726.3_Missense_Mutation_p.F379S|APP_ENST00000439274.2_Missense_Mutation_p.F379S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	435					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTTCTCCTGGAAATGCTGCCA	0.453000													16	41					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64527344	64527344	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64527344C>A	ENST00000164139.3	-	1	425	c.27G>T	c.(25-27)gaG>gaT	p.E9D	PYGM_ENST00000377432.3_Missense_Mutation_p.E9D	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTTTCTTTTCTCTTGGTCTG	0.597000													41	90					4.67007e-22	6.4791e-22	1	1	0
ZNF652	22834	broad.mit.edu	37	17	47394794	47394794	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47394794C>A	ENST00000362063.2	-	2	612	c.294G>T	c.(292-294)gaG>gaT	p.E98D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E98D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	98	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CATCAGAATTCTCCCGGTCTT	0.428000													41	63					9.85913e-13	1.24945e-12	1	1	0
ADRBK2	157	broad.mit.edu	37	22	26000402	26000402	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26000402A>C	ENST00000324198.5	+	2	364	c.172A>C	c.(172-174)Att>Ctt	p.I58L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	58	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CTTTGACAAGATTTTCAATCA	0.378000													22	43					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47223872	47223872	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47223872T>G	ENST00000391910.3	-	17	2720	c.2270A>C	c.(2269-2271)aAg>aCg	p.K757T	STRN4_ENST00000539396.1_Missense_Mutation_p.K631T|STRN4_ENST00000263280.6_Missense_Mutation_p.K750T			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	750						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TACGAAGACCTTGGCCAGGGC	0.677000													18	26					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482977	152482977	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152482977G>A	ENST00000356661.5	-	3	252	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	12						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCTCAGGCTTGCAGTGC	0.627000													14	119					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78010799C>T	ENST00000435339.2	+	2	838	c.433C>T	c.(433-435)Cga>Tga	p.R145*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.R145*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTATCCTTTTCGATCTCGTAC	0.463000													35	69					0	0	1	0	0
CCNYL1	151195	broad.mit.edu	37	2	208591568	208591568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208591568C>T	ENST00000295414.3	+	3	509	c.298C>T	c.(298-300)Cga>Tga	p.R100*	CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.R30*|CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.R100*			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	100					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		ATTCTTAGTGCGAGAAAAGAG	0.299000													32	65					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2763047	2763047	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2763047A>G	ENST00000399655.1	+	33	4386	c.4121A>G	c.(4120-4122)tAc>tGc	p.Y1374C	CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1394C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1361C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1399C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y1422C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1402C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1396C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1391C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1374C	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	1422					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)	TTCTTCATCTACGCGGTGATC	0.627000													8	21					0	0	1	0	0
MID1	0	broad.mit.edu	37	X	10491182	10491182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10491182C>A	ENST00000317552.4	-	3	1106	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	MID1_ENST00000380779.1_Nonsense_Mutation_p.E236*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E236*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	236					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTCCAGTTCTGTGTTCCTC	0.338000													46	63					3.21987e-24	4.51617e-24	1	1	0
ERAP2	64167	broad.mit.edu	37	5	96219620	96219620	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96219620T>C	ENST00000437043.3	+	3	1411	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P	ERAP2_ENST00000379904.4_Missense_Mutation_p.S234P|ERAP2_ENST00000510309.1_Missense_Mutation_p.S234P|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	234					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TATTGCACTATCCAACATGCC	0.408000													16	21					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106038844	106038844	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106038844T>G	ENST00000255499.2	+	7	1438	c.1188T>G	c.(1186-1188)aaT>aaG	p.N396K	RNF128_ENST00000324342.3_Missense_Mutation_p.N370K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	396						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATGAAGCAAATTCTGTGGCAG	0.358000													23	165					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63182119	63182119	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:63182119C>T	ENST00000228705.6	-	4	1057		c.e4-1			NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H								phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCTGTAGGTCCTGGAGAATAA	0.438000													6	10					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549183	158549183	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158549183G>T	ENST00000368150.1	-	1	506	c.507C>A	c.(505-507)ttC>ttA	p.F169L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468000													23	25					7.41877e-09	8.8016e-09	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33413754	33413754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:33413754G>T	ENST00000404816.2	+	7	1890	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E513*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E187*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E187*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	513					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAGACAAAAGAAGCTCAACC	0.483000													37	60					1.26612e-14	1.65413e-14	1	1	0
SLC6A1	6529	broad.mit.edu	37	3	11064023	11064023	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:11064023C>T	ENST00000287766.4	+	7	1004	c.581_splice	c.e7-1	p.R195_splice	SLC6A1_ENST00000536032.1_Splice_Site_p.R17_splice	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	195					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTTGACCAGGCGCAACATGCA	0.602000													13	29					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50847289	50847289	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50847289G>A	ENST00000398473.2	+	9	963	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	LARP4_ENST00000522085.1_Missense_Mutation_p.R284Q|LARP4_ENST00000293618.8_Missense_Mutation_p.R284Q|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.R290Q|LARP4_ENST00000518561.1_Missense_Mutation_p.R214Q|LARP4_ENST00000518444.1_Missense_Mutation_p.R283Q	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	284							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AATGGTTATCGATTAATGGAT	0.348000													23	54					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489996	44489996	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489996T>G	ENST00000425708.2	-	7	1508	c.1167A>C	c.(1165-1167)gaA>gaC	p.E389D	ZNF445_ENST00000396077.2_Missense_Mutation_p.E389D			P59923	ZN445_HUMAN	zinc finger protein 445	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E389D(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCCTGATACTTCAGAGTCTT	0.378000													29	53					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103040659	103040659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040659C>A	ENST00000418604.1	+	3	433	c.153C>A	c.(151-153)ttC>ttA	p.F51L	PLP1_ENST00000303958.2_Missense_Mutation_p.F51L|PLP1_ENST00000361621.2_Missense_Mutation_p.F51L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	51			F -> S (in HLD1).		cell death|synaptic transmission	integral to membrane		p.F51L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCTATTTCTCCAAAAACT	0.478000													58	103					4.17463e-26	5.89501e-26	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88962766	88962766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88962766G>T	ENST00000333190.4	+	4	1079	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	157						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAATGGCAGAAAGGTATCA	0.438000										HNSCC(36;0.09)			20	29					4.96729e-08	5.79844e-08	1	1	0
CIR1	9541	broad.mit.edu	37	2	175215392	175215392	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175215392G>A	ENST00000342016.3	-	9	765	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	225	Interaction with RP9 (By similarity).|Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AATTACCTGAGAAGTTTCTGT	0.328000													5	16					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251847	19251847	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19251847G>A	ENST00000527884.1	-	9	1531	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	E2F8_ENST00000250024.4_Silent_p.F433F|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	433					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTTACTTGGGAAGGGTGCAG	0.403000													17	52					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89202808	89202808	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89202808A>T	ENST00000554922.1	-	7	1197	c.949T>A	c.(949-951)Ttt>Att	p.F317I	EML5_ENST00000380664.5_Missense_Mutation_p.F317I|EML5_ENST00000352093.5_Missense_Mutation_p.F317I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	317				F -> S (in Ref. 2; AAH32685).		cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAATTAGAAAAGGTTTATTT	0.428000													52	89					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97788728	97788728	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:97788728C>A	ENST00000297293.5	+	6	941	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	216	Protein kinase.				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)					TGTTTGAGTTCTGTGACTTGG	0.423000													14	40					2.61681e-11	3.25035e-11	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50377889	50377889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50377889G>T	ENST00000376020.2	-	4	1209	c.1184C>A	c.(1183-1185)tCt>tAt	p.S395Y	SHROOM4_ENST00000460112.3_Missense_Mutation_p.S279Y|SHROOM4_ENST00000289292.7_Missense_Mutation_p.S395Y	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	395					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGCCAAAAGAAGCCTTAGC	0.552000													10	15					0.000442599	0.00046913	1	1	0
RNF20	56254	broad.mit.edu	37	9	104316369	104316369	+	Silent	SNP	G	G	A	rs147900751	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316369G>A	ENST00000389120.3	+	14	2091	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	667					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGGCAGCTGAGAAGAAGTCTA	0.428000													20	42					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493188	6493188	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6493188G>A	ENST00000361413.3	-	18	3055	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	KIAA0753_ENST00000572370.1_Silent_p.I600I|KIAA0753_ENST00000589033.1_Silent_p.I355I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.I600I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	899						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGTAGTCACCGATGCTGTGCT	0.512000													20	42					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788717	113788717	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113788717T>G	ENST00000259213.4	-	3	136	c.29A>C	c.(28-30)aAa>aCa	p.K10T	IL36B_ENST00000327407.2_Missense_Mutation_p.K10T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	10					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGCATAGGATTTGGGTGCTGC	0.463000													9	45					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155569225	155569225	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155569225G>A	ENST00000461783.3	+	22	5017	c.3744G>A	c.(3742-3744)ccG>ccA	p.P1248P	TIAM2_ENST00000456877.2_Silent_p.P560P|TIAM2_ENST00000275246.7_Silent_p.P173P|TIAM2_ENST00000360366.4_Silent_p.P1272P|TIAM2_ENST00000528391.2_Silent_p.P584P|TIAM2_ENST00000529824.2_Silent_p.P1248P|TIAM2_ENST00000456144.1_Silent_p.P1248P|TIAM2_ENST00000318981.5_Silent_p.P1248P|TIAM2_ENST00000367174.2_Silent_p.P624P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1248	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCATCAAGCCGGTTCAGAGAG	0.592000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	49					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924041	105924041	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:105924041G>T	ENST00000526793.1	-	3	1534	c.1375C>A	c.(1375-1377)Ctt>Att	p.L459I	KBTBD3_ENST00000534815.1_Missense_Mutation_p.L380I|KBTBD3_ENST00000531837.1_Missense_Mutation_p.L459I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	455										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTGATCCAAGAACATAAATT	0.373000													8	23					0.000157383	0.000169016	1	1	0
DHX57	90957	broad.mit.edu	37	2	39029908	39029908	+	Silent	SNP	G	G	A	rs146662521	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39029908G>A	ENST00000295373.6	-	23	4092	c.3966C>T	c.(3964-3966)ttC>ttT	p.F1322F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1322							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGGAGACAACGAACTCTCCTC	0.507000													60	101					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89523768	89523768	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89523768C>T	ENST00000370473.4	-	6	1000	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	261					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCACAAATTCGGGGTCCAGC	0.458000													58	127					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806990	48806990	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48806990A>G	ENST00000315396.7	-	8	1476	c.794T>C	c.(793-795)cTt>cCt	p.L265P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	265										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTCGTAGCAAAGCACCAGCCT	0.627000													40	70					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20682930	20682930	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20682930G>A	ENST00000307493.4	-	4	742	c.675C>T	c.(673-675)ttC>ttT	p.F225F	ACSM1_ENST00000520010.1_Silent_p.F225F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	225					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						TCCCACTGGTGAAGAAGATGA	0.502000													21	56					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32306131	32306131	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32306131G>A	ENST00000302418.4	-	24	3158	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	901					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCCTTTATGCGATCTACTTCT	0.418000			T	"""RET, ALK"""	NSCLC								68	143					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296569	9296569	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9296569A>G	ENST00000344248.2	+	1	291	c.112A>G	c.(112-114)Acg>Gcg	p.T38A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	38					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACCTGGTGACGGTGCTGGG	0.507000													12	83					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921888	110921888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110921888G>A	ENST00000369779.4	-	6	866	c.617C>T	c.(616-618)tCt>tTt	p.S206F	SLC16A4_ENST00000437429.2_Missense_Mutation_p.S96F|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S158F|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S144F|SLC16A4_ENST00000497687.1_5'UTR	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	206						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TTTAATACCAGAATTGTTCTC	0.423000													11	33					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68914501	68914501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68914501G>T	ENST00000261778.1	+	7	1357	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GACAGAAGAAGAACTTAGTAG	0.303000													15	31					8.60227e-14	1.10942e-13	1	1	0
REV3L	5980	broad.mit.edu	37	6	111680169	111680169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111680169G>A	ENST00000435970.1	-	19	7510	c.6694C>T	c.(6694-6696)Cga>Tga	p.R2232*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2310*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2310					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTAAGTCTCGTCTAGTTCGA	0.373000								DNA polymerases (catalytic subunits)					20	39					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120884286	120884286	+	Missense_Mutation	SNP	C	C	T	rs148996529	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120884286C>T	ENST00000310396.5	+	18	2671	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.S735L(1)									CTTAGTTGTTCGGACAACAGG	0.468000													29	65					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310741	178310741	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310741A>G	ENST00000322434.3	+	5	1514	c.1288A>G	c.(1288-1290)Ata>Gta	p.I430V		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGACACCGAATAATTCATAC	0.358000													18	46					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17214759	17214759	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17214759G>T	ENST00000285681.2	+	18	2606	c.2237G>T	c.(2236-2238)aGa>aTa	p.R746I	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R746I|USP25_ENST00000400183.2_Missense_Mutation_p.R746I			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	746					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGCCATCAAGAAGTGATTTC	0.358000													21	53					3.62473e-10	4.42315e-10	1	1	0
SEC63	11231	broad.mit.edu	37	6	108204347	108204347	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:108204347C>T	ENST00000369002.4	-	17	1857	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	560					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTACTGCAGCTTCCTAAAAG	0.358000													7	20					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40319675	40319675	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40319675T>G	ENST00000316891.5	-	3	395	c.381A>C	c.(379-381)gaA>gaC	p.E127D	TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127D|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127D	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	127					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGCAGAGATTCAATGTAAT	0.363000													18	40					0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	63982090	63982090	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982090T>C	ENST00000309683.6	-	4	1193	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTGTAGGGTTTCTCTCCAGTA	0.343000													11	44					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363000													43	89					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48937070	48937070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48937070G>T	ENST00000267163.4	+	8	976	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	280					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E280*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCTGTAAAGAACATGAATG	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			22	41					1.28384e-07	1.48174e-07	1	1	0
KIAA1033	23325	broad.mit.edu	37	12	105535003	105535003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105535003T>G	ENST00000332180.5	+	18	1853	c.1766T>G	c.(1765-1767)cTt>cGt	p.L589R		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	589					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAACTGGATCTTATTAGTGAA	0.363000													32	61					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220386308	220386308	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:220386308T>C	ENST00000358951.2	-	4	423	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	103					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATTTCCATTTTGCTGTAAGA	0.299000													14	14					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005179	101005179	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:101005179G>T	ENST00000556751.1	-	5	4121	c.717C>A	c.(715-717)ttC>ttA	p.F239L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.F303L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.F303L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	303						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACGTGGCGCTGAAGCTGGAGT	0.687000													5	15					1.23904e-05	1.36503e-05	1	1	0
GART	2618	broad.mit.edu	37	21	34889392	34889392	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34889392G>A	ENST00000381831.3	-	16	2274	c.2011C>T	c.(2011-2013)Cgt>Tgt	p.R671C	GART_ENST00000543717.1_Missense_Mutation_p.R223C|GART_ENST00000381815.4_Missense_Mutation_p.R671C|GART_ENST00000381839.3_Missense_Mutation_p.R671C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	671	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGTCCTGAACGTAGGACAGGT	0.448000													5	93					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95514997	95514997	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:95514997T>C	ENST00000432432.2	-	0	660					NR_040113.1																						CAATAAAAATTCCACCATTTT	0.308000													49	123					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94732052	94732052	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94732052C>T	ENST00000335080.5	+	3	2348	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	KDM4D_ENST00000536741.1_Missense_Mutation_p.P506S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	506					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACTGAGCCCAGGGCTCCA	0.617000													19	24					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56102133	56102133	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:56102133G>T	ENST00000394555.2	-	8	1383	c.948C>A	c.(946-948)ttC>ttA	p.F316L	EFEMP1_ENST00000424836.2_Missense_Mutation_p.F178L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.F316L|EFEMP1_ENST00000355426.3_Missense_Mutation_p.F316L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	316	EGF-like 5; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATACATGAGAATTTCCCAG	0.383000													23	26					7.33628e-21	1.00811e-20	1	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941087	119941087	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:119941087C>T	ENST00000297350.4	-	3	860	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	161					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)			TGTGTGTTTTCTACAGGGTGC	0.413000													32	50					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7520728	7520728	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7520728G>T	ENST00000313599.3	-	17	4195	c.4138C>A	c.(4138-4140)Ctc>Atc	p.L1380I	CD163L1_ENST00000396630.1_Missense_Mutation_p.L1380I|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1390I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1380						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACCACGTGAGAAATAGAATA	0.408000													25	64					1.04121e-07	1.21041e-07	1	1	0
LZTS2	84445	broad.mit.edu	37	10	102766522	102766522	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102766522G>A	ENST00000370220.1	+	4	4670	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	LZTS2_ENST00000370223.3_Missense_Mutation_p.G536E			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	536	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGCGGCCGGACTCCGGGAG	0.677000													9	19					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172411630	172411630	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411630T>C	ENST00000367728.1	-	1	1596	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	PIGC_ENST00000344529.4_Missense_Mutation_p.K45E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.K45E|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	45					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TATTGGTATTTCCGAGCATGG	0.488000													61	106					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560162	19560162	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19560162G>A	ENST00000397821.3	-	16	2063	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	SH3KBP1_ENST00000379698.4_Silent_p.F554F|SH3KBP1_ENST00000541422.1_Silent_p.F330F|SH3KBP1_ENST00000379716.1_Silent_p.F353F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	591					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCGTGCCGAACAGAGACG	0.647000													23	104					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524753	51524753	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524753C>T	ENST00000371117.3	-	61	10446	c.10171G>A	c.(10171-10173)Gaa>Aaa	p.E3391K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3391					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.E3391*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATTTCTGTTCTTCTCTAAAT	0.348000													9	14					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898408	111898408	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111898408T>A	ENST00000305815.5	-	23	3141	c.2889A>T	c.(2887-2889)aaA>aaT	p.K963N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.K915N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	963					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGGCAGAATATTTCATAGGTT	0.338000													22	46					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868834	89868834	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89868834C>A	ENST00000534061.1	+	2	420	c.190C>A	c.(190-192)Ctt>Att	p.L64I	NAALAD2_ENST00000375944.3_Missense_Mutation_p.L64I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.L64I|NAALAD2_ENST00000525171.1_Missense_Mutation_p.L64I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	64					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAAATCATTTCTTCGGTAAGT	0.343000													13	17					7.03913e-09	8.36985e-09	1	1	0
SPESP1	246777	broad.mit.edu	37	15	69238254	69238254	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238254C>T	ENST00000310673.3	+	2	535	c.381C>T	c.(379-381)aaC>aaT	p.N127N	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	127					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAAACCAAACAATGTTTCCA	0.443000													17	38					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102359228	102359228	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:102359228C>A	ENST00000332238.4	+	1	863	c.839C>A	c.(838-840)cCt>cAt	p.P280H		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	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)			TTTATTACTCCTTTTCTGAAT	0.388000													20	33					2.39187e-15	3.14903e-15	1	1	0
LRRC55	219527	broad.mit.edu	37	11	56949434	56949434	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56949434C>A	ENST00000497933.1	+	1	214	c.67C>A	c.(67-69)Ctc>Atc	p.L23I		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GTCACAGACTCTCGATTCCAT	0.602000													21	31					1.01871e-10	1.25646e-10	1	1	0
GLIS1	148979	broad.mit.edu	37	1	54060081	54060081	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54060081C>T	ENST00000312233.2	-	3	1061	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	165					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GATAGGGGGGCGGCAGGCCCT	0.682000													7	27					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120978941	120978941	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120978941G>A	ENST00000222462.2	+	4	930	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	WNT16_ENST00000361301.2_Missense_Mutation_p.A204T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	214					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAGGCTGTCGCCAAGTTGAT	0.418000													16	43					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64907456	64907456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64907456C>A	ENST00000231524.9	-	4	990	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E207*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E207*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	207					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TTTCCATATTCTTTGCAGACA	0.418000													24	47					3.08376e-08	3.62155e-08	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133928021	133928021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133928021T>C	ENST00000361069.4	+	10	1907	c.1774T>C	c.(1774-1776)Tct>Cct	p.S592P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	592	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTAGCCTGTCTGGCCCCCA	0.637000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	42					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77073826	77073826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:77073826G>A	ENST00000579016.1	+	3	296	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	99						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAAGCCCCGCTTGGAGGAT	0.557000													33	59					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25264728	25264728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25264728A>C	ENST00000354189.5	-	14	1966	c.1931T>G	c.(1930-1932)tTt>tGt	p.F644C	CASC1_ENST00000395990.2_Missense_Mutation_p.F540C|CASC1_ENST00000320267.9_Missense_Mutation_p.F580C|CASC1_ENST00000537577.1_Missense_Mutation_p.F468C|CASC1_ENST00000395987.3_Missense_Mutation_p.F586C|CASC1_ENST00000545133.1_Missense_Mutation_p.F521C	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	580										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AATAACATAAAAATGAGAGTG	0.294000													14	22					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918352	16918352	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16918352C>A	ENST00000430580.2	-	7	1052	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	55						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTATTTCTTCTGTCGGTTGG	0.433000													27	642					3.93418e-24	5.51393e-24	1	1	0
USP37	57695	broad.mit.edu	37	2	219330886	219330886	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219330886A>C	ENST00000258399.3	-	21	2725	c.2313T>G	c.(2311-2313)ttT>ttG	p.F771L	USP37_ENST00000415516.1_Missense_Mutation_p.F677L|USP37_ENST00000418019.1_Missense_Mutation_p.F771L|USP37_ENST00000454775.1_Missense_Mutation_p.F771L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	771					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTATCTCAGTAAAACTGGCAG	0.378000													14	40					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279612	47279612	+	Missense_Mutation	SNP	G	G	A	rs139750942		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47279612G>A	ENST00000271153.4	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	217					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCAGTCAGCGATCTCACTCT	0.567000													58	102					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36442758	36442758	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36442758A>C	ENST00000373731.2	+	3	744	c.353A>C	c.(352-354)aAa>aCa	p.K118T	KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000449081.2_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	118	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GCACCAGAGAAAGTGACGCTT	0.433000													5	60					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97655650	97655650	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97655650C>A	ENST00000182096.4	+	16	2623	c.2559C>A	c.(2557-2559)tcC>tcA	p.S853S	CRYBG3_ENST00000389622.2_Silent_p.S60S|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATGAAGGATCCAATTTCTTGG	0.393000													14	18					3.35478e-16	4.45534e-16	1	1	0
CERKL	0	broad.mit.edu	37	2	182412416	182412416	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182412416G>A	ENST00000410087.3	-	10	1297	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CERKL_ENST00000339098.5_Silent_p.F425F|CERKL_ENST00000374969.2_Silent_p.F286F|CERKL_ENST00000374970.2_Silent_p.F330F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.F381F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	425					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)			TGACATTCAAGAACTGACCCT	0.403000													47	90					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268175	1268175	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1268175A>C	ENST00000339381.5	+	3	1296	c.1264A>C	c.(1264-1266)Aag>Cag	p.K422Q		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	422					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GGACCCCGTGAAGCCCTGGCA	0.672000													13	24					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614432	108614432	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108614432T>G	ENST00000264047.2	+	5	863	c.587T>G	c.(586-588)tTt>tGt	p.F196C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.F196C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.F91C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	196					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTTGCATTTTTGTAGGGCTG	0.398000													27	52					0	0	1	0	0
LAMP2	0	broad.mit.edu	37	X	119565273	119565273	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119565273C>T	ENST00000200639.4	-	9	1274	c.1138G>A	c.(1138-1140)Gcg>Acg	p.A380T	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	380					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTCCCACCGCTATGGGCACA	0.438000													76	170					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39242380	39242380	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39242380C>T	ENST00000331366.5	-	4	367	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CPNE8_ENST00000360449.3_Missense_Mutation_p.E79K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	91	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CGAAGATTCTCTCTTTCTTCA	0.308000													6	24					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187875	102187875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:102187875G>T	ENST00000306176.1	+	8	977	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.E277*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E277*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	277	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTTTTCTTTTGAAGTGTTCCG	0.478000													16	41					1.3612e-06	1.53357e-06	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130412665	130412665	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130412665G>A	ENST00000370904.1	-	18	2694	c.1784C>T	c.(1783-1785)cCg>cTg	p.P595L	IGSF1_ENST00000361420.3_Missense_Mutation_p.P604L|IGSF1_ENST00000370903.3_Missense_Mutation_p.P609L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P595L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	604	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTCTTCCACGGGGCCAGAGG	0.557000													39	100					0	0	1	0	0
UPF3B	0	broad.mit.edu	37	X	118979216	118979216	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118979216T>A	ENST00000276201.2	-	4	483	c.414A>T	c.(412-414)aaA>aaT	p.K138N	UPF3B_ENST00000345865.2_Missense_Mutation_p.K138N|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	138	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTGCAGCTTTTTGAAAAG	0.343000													25	38					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27695654	27695654	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27695654C>T	ENST00000438929.1	-	2	318	c.178G>A	c.(178-180)Gtt>Att	p.V60I	BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Intron|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000420794.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA	NM_001143810.1	NP_001137282.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	0						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCCACTGAAACGTGGAGGTAC	0.453000													8	12					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018554	88018554	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:88018554G>A	ENST00000504921.2	-	10	1961	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L|MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000437473.2_Missense_Mutation_p.S430L|MEF2C_ENST00000506554.1_3'UTR			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	430					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CCCGTCGTACGAACTGCTACA	0.592000										HNSCC(66;0.2)			18	114					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49725173	49725173	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49725173G>A	ENST00000551245.1	+	13	2656	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	TROAP_ENST00000547923.1_Missense_Mutation_p.E438K|TROAP_ENST00000257909.3_Missense_Mutation_p.E759K			Q12815	TROAP_HUMAN	trophinin associated protein	350					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TACATTACTCGAATGGCAGGA	0.642000											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	55					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920080	97920080	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97920080C>A	ENST00000534948.1	+	0	4858							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCTTTTAGTTCTAAACAGCTT	0.393000													24	34					1.9806e-07	2.28356e-07	1	1	0
ZNF724P	0	broad.mit.edu	37	19	23406199	23406199	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23406199T>C	ENST00000418100.1	-	4	965	c.848A>G	c.(847-849)aAa>aGa	p.K283R																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TTCTTTACATTTGTAGGCATT	0.373000													7	16					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86826116	86826116	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86826116T>G	ENST00000359242.3	-	12	1528	c.1247A>C	c.(1246-1248)aAa>aCa	p.K416T	ODF2L_ENST00000370567.1_Missense_Mutation_p.K387T|ODF2L_ENST00000370566.3_Missense_Mutation_p.K387T|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Missense_Mutation_p.K416T|ODF2L_ENST00000394731.1_Missense_Mutation_p.K256T|ODF2L_ENST00000294678.2_Missense_Mutation_p.K387T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	416						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CACCTGAGTTTTATACATTTC	0.294000													9	22					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17250772	17250772	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17250772G>A	ENST00000285681.2	+	25	3611	c.3242G>A	c.(3241-3243)cGa>cAa	p.R1081Q	USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000285679.6_Missense_Mutation_p.R1049Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1049					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1049Q(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCCCTCAGTCGAACTCCTGCT	0.438000													17	31					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180651723	180651723	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180651723G>A	ENST00000315073.5	+	1	1434	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E242K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	242						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.E242*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGGTAGACGAAGAGGCCAT	0.587000													26	54					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125088538	125088538	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125088538C>T	ENST00000522917.1	+	32	4398	c.4192C>T	c.(4192-4194)Cct>Tct	p.P1398S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1398S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1398	C2 5.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAAATACATCCCTAAACAACT	0.443000													68	116					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716361	39716361	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39716361G>T	ENST00000553728.1	+	4	796	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	MIA2_ENST00000280082.3_Missense_Mutation_p.D195Y|MIA2_ENST00000556784.1_Missense_Mutation_p.D194Y																							TGAATCAAAAGACTGGGAAGA	0.418000													6	61					0.248553	0.24944	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84558912	84558912	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:84558912T>G	ENST00000286744.5	+	11	1348	c.1124T>G	c.(1123-1125)gTt>gGt	p.V375G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V375G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	375						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGGGTAGTTCCTGACCAT	0.403000													15	96					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325297	74325297	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74325297G>T	ENST00000322348.4	-	1	1427	c.566C>A	c.(565-567)gCt>gAt	p.A189D		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	189					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TAATTTGGAAGCAATGAAAAT	0.398000													40	66					3.61848e-18	4.89221e-18	1	1	0
TUBBP1	0	broad.mit.edu	37	8	30210189	30210189	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30210189T>C	ENST00000518096.1	+	0	801																											CACCAACCTATGGGGATCTGA	0.527000													30	52					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180838374	180838374	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180838374C>T	ENST00000410053.3	-	7	1036	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R246Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	246	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding	p.R246Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GTCATTTCTTCGATAGCCTTT	0.313000													8	14					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105147784	105147784	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147784G>A	ENST00000369839.3	+	11	2230	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	TAF5_ENST00000351396.4_Missense_Mutation_p.R681Q	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	736					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AATACAGTTCGATTATGGGAT	0.373000													21	45					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122927093	122927093	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122927093A>G	ENST00000395412.1	+	10	1790	c.1071A>G	c.(1069-1071)caA>caG	p.Q357Q	CSNK1G3_ENST00000521364.1_Silent_p.Q357Q|CSNK1G3_ENST00000512718.3_Silent_p.Q282Q|CSNK1G3_ENST00000510842.2_Silent_p.Q358Q|CSNK1G3_ENST00000511130.2_Silent_p.Q245Q|CSNK1G3_ENST00000360683.2_Silent_p.Q357Q|CSNK1G3_ENST00000361991.2_Silent_p.Q357Q|CSNK1G3_ENST00000395411.1_Silent_p.Q357Q|CSNK1G3_ENST00000345990.4_Silent_p.Q357Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	357					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ATAAGATGCAACAATCCAAAA	0.383000													7	29					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50946777	50946777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50946777A>C	ENST00000357701.5	+	10	980	c.929A>C	c.(928-930)aAg>aCg	p.K310T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	310	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTTGGTAAGAAGCGAATTCTT	0.498000													10	16					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59835509	59835509	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59835509C>T	ENST00000395125.1	+	25	3192	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1057	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	p.R1057C(1)		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)		GAAACGGAATCGCAAACGTAT	0.368000													19	33					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262755	39262755	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39262755G>A	ENST00000407418.3	-	5	821	c.698C>T	c.(697-699)gCg>gTg	p.A233V	CBX6_ENST00000216083.6_Missense_Mutation_p.A215V			O95503	CBX6_HUMAN	chromobox homolog 6	233					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTTGTACAGCGCAAAGGCGCC	0.682000													29	58					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114355205	114355205	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114355205C>A	ENST00000407693.2	-	4	472		c.e4+1		PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|PTGR1_ENST00000309195.5_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						GAAATAATTACTTGGCCACTT	0.383000													9	32					3.86212e-05	4.21111e-05	1	1	0
NF1	4763	broad.mit.edu	37	17	29684049	29684049	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29684049C>A	ENST00000358273.4	+	53	8193	c.7810C>A	c.(7810-7812)Ctc>Atc	p.L2604I	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.L397I|NF1_ENST00000356175.3_Missense_Mutation_p.L2583I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2604					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.?(3)	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)		ATCAAATGTTCTCTTGGATGA	0.423000			"""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)			46	90					7.05121e-23	9.83114e-23	1	1	0
KLHL38	340359	broad.mit.edu	37	8	124663962	124663962	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124663962T>G	ENST00000325995.7	-	1	1228	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	402										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCATACCTTTCCATGGAGCC	0.567000													8	59					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454749	29454749	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29454749T>G	ENST00000216071.4	-	3	905	c.854A>C	c.(853-855)aAg>aCg	p.K285T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	285										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GCTCTTTAACTTGGGCCATTT	0.483000													6	88					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120907363	120907363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120907363C>A	ENST00000355697.2	-	12	761	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E239*	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	248					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GCTAGCGTTTCTCTAACAGCC	0.488000													38	45					3.62531e-18	4.89791e-18	1	1	0
C10orf53	282966	broad.mit.edu	37	10	50902001	50902001	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50902001C>A	ENST00000374113.3	+	2	326	c.279C>A	c.(277-279)ttC>ttA	p.F93L	C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374111.3_Intron			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CCCTCAATTTCTAGTTGAAAT	0.453000													10	35					0.000442599	0.00046913	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98188675	98188675	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188675C>A	ENST00000332650.5	+	1	352	c.255C>A	c.(253-255)ttC>ttA	p.F85L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGAGAACTTCTTTTCTGAGA	0.433000													58	117					2.40265e-35	3.4535e-35	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49160170	49160170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49160170C>A	ENST00000418109.1	-	28	4704	c.4540G>T	c.(4540-4542)Gaa>Taa	p.E1514*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1514*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1514	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGATAAGTTCTTGAAGTTCC	0.597000													9	122					0.00621372	0.0064192	1	1	0
SP7	121340	broad.mit.edu	37	12	53722395	53722395	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722395C>T	ENST00000536324.2	-	3	1114	c.831G>A	c.(829-831)gaG>gaA	p.E277E	SP7_ENST00000303846.3_Silent_p.E277E|SP7_ENST00000537210.2_Silent_p.E259E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCCGCTCTAGCTCCTGGCAAT	0.662000													12	29					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14745900G>A	ENST00000253697.3	+	7	1387	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	312						cytoplasm|integral to membrane		p.R312Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGATCTTACGAAACTACAAG	0.493000													32	51					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90077323	90077323	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90077323C>T	ENST00000405460.2	+	65	13255	c.13159C>T	c.(13159-13161)Cgc>Tgc	p.R4387C	GPR98_ENST00000425867.2_Missense_Mutation_p.R48C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4387					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)		CTCCATTGTTCGCATCATAAT	0.363000													8	11					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862660	108862660	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108862660G>T	ENST00000356922.4	-	2	1229	c.957C>A	c.(955-957)ttC>ttA	p.F319L	LIG4_ENST00000405925.1_Missense_Mutation_p.F319L|LIG4_ENST00000442234.1_Missense_Mutation_p.F319L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	319					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TATCTGCTTTGAATGCATTAT	0.333000								Non-homologous end-joining					22	41					0.000229342	0.00024587	1	1	0
STAG2	10735	broad.mit.edu	37	X	123185195	123185195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123185195G>T	ENST00000371160.1	+	13	1437	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E314*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E383*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E383*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	383					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTGACAAAGAATATGATGT	0.279000													13	51					1.05317e-09	1.27574e-09	1	1	0
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000283269.9_Silent_p.F1197F|CADPS_ENST00000357948.3_Silent_p.F1157F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448000													25	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600640	179600640	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179600640C>T	ENST00000589042.1	-	50	14757	c.14533G>A	c.(14533-14535)Gac>Aac	p.D4845N	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4528N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4528	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D3601N(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)			TTTTCTGCGTCGGAAATCCTC	0.438000													17	46					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705191	101705191	+	Silent	SNP	C	C	T	rs139640364		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101705191C>T	ENST00000305352.6	+	2	1026	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	217					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCTCTCCATCGTCATTCTGT	0.567000													45	84					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64212074	64212074	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:64212074T>G	ENST00000262150.2	-	6	1134	c.842A>C	c.(841-843)tAt>tCt	p.Y281S	CDH19_ENST00000540086.1_Missense_Mutation_p.Y281S	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	281	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTCATTATCATATGCCATGAT	0.358000													8	15					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089558	31089558	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31089558G>A	ENST00000359202.3	-	1	612	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	171					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGAGCTTGTCGAACAGGTACT	0.632000													24	50					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093648	69093648	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69093648G>T	ENST00000295379.1	-	2	548	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	130					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGGACACATTGAAGAGGAGGG	0.453000													17	25					6.94344e-10	8.4399e-10	1	1	0
DKFZP761J1410	0	broad.mit.edu	37	19	11473304	11473304	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11473304G>A	ENST00000251473.5	+	7	1155	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAGTACCGAAACCACTGG	0.652000													29	41					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167817657	167817657	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167817657G>T	ENST00000367848.1	-	19	2600	c.2103C>A	c.(2101-2103)gtC>gtA	p.V701V	ADCY10_ENST00000545172.1_Silent_p.V640V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.V793V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	793					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.V793V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGGTGACAGACTTCTTCAC	0.433000													7	45					5.18039e-06	5.75679e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237961430	237961430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237961430G>T	ENST00000366574.2	+	97	14367	c.14050G>T	c.(14050-14052)Gaa>Taa	p.E4684*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4690*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4668*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4684					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATGCCAGAGAAAAGAAGAA	0.433000													7	12					0.0477658	0.0484551	1	1	0
FOSL2	2355	broad.mit.edu	37	2	28626994	28626994	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:28626994T>C	ENST00000264716.4	+	2	986	c.123T>C	c.(121-123)ccT>ccC	p.P41P	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.P2P|FOSL2_ENST00000379619.1_Silent_p.P16P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	41					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGATATGCCTGGCTCAGGCA	0.463000													9	103					0	0	1	0	0
RFPL1S	0	broad.mit.edu	37	22	29833764	29833764	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29833764G>A	ENST00000461286.2	-	0	4612					NR_002727.2																						TAGATGCCTAGAAATGGGGGT	0.498000													10	8					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13327102	13327102	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:13327102C>T	ENST00000607658.1	-	2	179	c.29G>A	c.(28-30)cGt>cAt	p.R10H	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R10H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R10H			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	10					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ATATACTGAACGAAAGTTTCT	0.383000													26	7					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27708255	27708255	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27708255T>G	ENST00000260570.3	-	2	258	c.155A>C	c.(154-156)aAa>aCa	p.K52T	IFT172_ENST00000359466.6_Missense_Mutation_p.K52T|IFT172_ENST00000416524.2_Missense_Mutation_p.K31T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	52					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTGGAGAATTTATCTCTCCG	0.453000													49	66					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380484	186380484	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186380484G>A	ENST00000307588.3	-	6	1332	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	CCDC110_ENST00000393540.3_Silent_p.S382S|CCDC110_ENST00000510617.1_Silent_p.S419S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	419						nucleus		p.S419S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCTCAGTAACGGAATTAACTT	0.318000													21	64					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265586	39265586	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39265586A>C	ENST00000280481.7	+	1	4321	c.4105A>C	c.(4105-4107)Aat>Cat	p.N1369H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1369					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)		ACTGGGCATGAATTTTACCCA	0.393000													20	45					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645132	67645132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67645132G>T	ENST00000264010.4	+	3	841	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	133					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAGTAGAAGAACTTCAGGG	0.458000													28	66					3.57733e-08	4.18982e-08	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76910822	76910822	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76910822G>T	ENST00000409709.3	+	35	5083	c.4811G>T	c.(4810-4812)aGa>aTa	p.R1604I	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1555I|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1566I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1604	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCGGAAGAGATCTAAGTAT	0.577000													6	20					8.12818e-05	8.79784e-05	1	1	0
CHEK2P2	0	broad.mit.edu	37	15	20496803	20496803	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:20496803G>T	ENST00000555186.1	+	0	856					NR_038836.1																						CTTTTTCACAGTCACTGATGT	0.313000													5	13					1	1	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166866290	166866290	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166866290G>T	ENST00000423058.2	-	20	3958	c.3941C>A	c.(3940-3942)tCt>tAt	p.S1314Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1286Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1303Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1314Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1314						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTCCTGAGAGATTTGATGGC	0.383000													16	25					1.37285e-15	1.81125e-15	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187706	11187706	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11187706C>A	ENST00000337414.4	-	9	2600	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q385H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q576H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q608H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q401H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q373H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	576	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCTGAACTCTGAACTGAGA	0.473000													17	63					8.60227e-14	1.10942e-13	1	1	0
SCMH1	22955	broad.mit.edu	37	1	41541092	41541092	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:41541092G>A	ENST00000402904.2	-	9	1115	c.747C>T	c.(745-747)tcC>tcT	p.S249S	SCMH1_ENST00000372597.1_Silent_p.S202S|SCMH1_ENST00000361191.5_Silent_p.S188S|SCMH1_ENST00000337495.5_Silent_p.S259S|SCMH1_ENST00000326197.7_Silent_p.S249S|SCMH1_ENST00000372596.1_Silent_p.S188S|SCMH1_ENST00000456518.2_Silent_p.S91S|SCMH1_ENST00000397171.2_Silent_p.S188S|SCMH1_ENST00000397174.2_Silent_p.S229S|SCMH1_ENST00000372595.1_Silent_p.S188S|SCMH1_ENST00000361705.3_Silent_p.S202S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	249					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TATTCACATCGGAGGCAGGAT	0.512000													32	49					0	0	1	0	0
LPPR4	0	broad.mit.edu	37	1	99771601	99771601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771601C>T	ENST00000370185.3	+	7	1824	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R285*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R385*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		443							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GGATTCCGCTCGATCAAAGCA	0.498000													4	86					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101157417	101157417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101157417C>A	ENST00000370508.5	-	9	1156	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.E356*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	377					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGTGCTTTTCATTGACCAGA	0.458000													35	64					8.4185e-14	1.08646e-13	1	1	0
LGR5	8549	broad.mit.edu	37	12	71950416	71950416	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71950416G>T	ENST00000266674.5	+	6	973	c.662G>T	c.(661-663)aGa>aTa	p.R221I	LGR5_ENST00000536515.1_Missense_Mutation_p.R149I|LGR5_ENST00000540815.2_Missense_Mutation_p.R221I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	221						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATAACAATAGAATCCACTCC	0.388000													25	51					4.4004e-07	5.01286e-07	1	1	0
SLC7A7	9056	broad.mit.edu	37	14	23242890	23242890	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23242890A>G	ENST00000397532.3	-	10	1990	c.1465T>C	c.(1465-1467)Tca>Cca	p.S489P	SLC7A7_ENST00000397528.4_Missense_Mutation_p.S489P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S489P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S489P|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S489P|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S223P			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	489			S -> P (in LPI).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCAGCAACTGACATACACAGG	0.478000													19	35					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291545	141291545	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291545G>A	ENST00000247452.3	-	3	576	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	77						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTAAGATTTGGTATCACACCA	0.517000										HNSCC(46;0.14)			22	59					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113472	57113472	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57113472A>C	ENST00000262510.6	+	46	5477	c.5252A>C	c.(5251-5253)aAg>aCg	p.K1751T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.K1722T|NLRC5_ENST00000308149.7_Missense_Mutation_p.K1722T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1751					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTTCCTGTAAGATTGACAAC	0.577000													48	103					0	0	1	0	0
BNIP3	664	broad.mit.edu	37	10	133784368	133784368	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:133784368T>G	ENST00000540159.1	-	4	505	c.389_splice	c.e4+1	p.K130_splice	BNIP3_ENST00000368636.4_Splice_Site_p.K130_splice			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	130					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACACACTCACTTGGGGGGAAT	0.473000													4	61					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139159530	139159530	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139159530A>G	ENST00000423192.1	+	4	382	c.221A>G	c.(220-222)aAa>aGa	p.K74R	ECT2L_ENST00000541398.1_Missense_Mutation_p.K5R|ECT2L_ENST00000367682.2_Missense_Mutation_p.K74R			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	74					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						CAAGTGGCCAAAGTGGACTTC	0.388000			"""N, Splice, Mis"""		ETP ALL								18	23					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56882100	56882100	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882100C>T	ENST00000370746.3	+	5	884	c.615C>T	c.(613-615)taC>taT	p.Y205Y	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Silent_p.Y107Y	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	205	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATGAATACATGGCCACTC	0.393000													9	19					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656432	25656432	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656432G>A	ENST00000376436.1	-	4	2031	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W					zinc finger protein 337									p.R498W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTATCCCGAAACCTTCGC	0.498000													46	77					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50251695	50251695	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50251695T>C	ENST00000246801.3	-	3	513	c.431A>G	c.(430-432)aAa>aGa	p.K144R		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	144							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GATGGAGTCTTTGGCGCGGAC	0.562000													12	45					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175120	112175120	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175120T>G	ENST00000457016.1	+	16	4209	c.3829T>G	c.(3829-3831)Tta>Gta	p.L1277V	APC_ENST00000508376.2_Missense_Mutation_p.L1277V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1277V			P25054	APC_HUMAN	adenomatous polyposis coli	1277	Responsible for down-regulation through a process mediated by direct ubiquitination.|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)		ATGTAGTTCATTATCATCTTT	0.343000		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)			14	28					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242595	2242595	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2242595A>C	ENST00000243706.4	-	2	308	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.F27V|HAUS3_ENST00000506763.1_Missense_Mutation_p.F27V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	27					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AACCAGTCAAAGTCTTCTCCA	0.373000													8	68					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281126	142281126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281126C>A	ENST00000350721.4	-	4	1239	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ATR_ENST00000383101.3_Missense_Mutation_p.R373I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	373					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAAATATTTCTCACATAGAC	0.358000								Other conserved DNA damage response genes					21	46					5.26018e-13	6.70247e-13	1	1	0
CCDC65	85478	broad.mit.edu	37	12	49315203	49315203	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49315203G>A	ENST00000320516.4	+	8	1620	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	478										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CCATCCAGGTGATAAACAACA	0.413000													24	49					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49776035	49776035	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49776035T>C	ENST00000492622.2	+	24	3392	c.3087T>C	c.(3085-3087)gcT>gcC	p.A1029A	FNDC3A_ENST00000541916.1_Silent_p.A1029A|FNDC3A_ENST00000398316.3_Silent_p.A973A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1029	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTAATGAAGCTGGGGAAGGTC	0.373000													12	21					0	0	1	0	0
PCDHB10	0	broad.mit.edu	37	5	140572226	140572226	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140572226C>T	ENST00000239446.4	+	1	285	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		34					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGTTATTCGGTGACTGAG	0.507000													37	73					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073366	76073366	+	RNA	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76073366A>T	ENST00000395215.3	+	0	559																											CAAGAATTGGAGCGGGCTCTC	0.567000													26	46					0	0	1	0	0
RNF170	81790	broad.mit.edu	37	8	42711377	42711377	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42711377G>T	ENST00000534961.1	-	7	1178	c.702C>A	c.(700-702)ttC>ttA	p.F234L	RNF170_ENST00000527424.1_Missense_Mutation_p.F234L|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Missense_Mutation_p.F150L|RNF170_ENST00000319073.4_Missense_Mutation_p.F138L	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	234						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGATGACAAAGAAATCATCTA	0.318000													26	39					2.79863e-10	3.42475e-10	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3680010	3680010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3680010C>T	ENST00000344754.4	-	7	1624	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R542H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	542	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCAGGAGAAGCGGGCATCAGG	0.672000													14	10					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5066779	5066779	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5066779T>C	ENST00000381652.3	+	10	1810	c.1316T>C	c.(1315-1317)tTt>tCt	p.F439S	JAK2_ENST00000544510.1_Missense_Mutation_p.F290S|JAK2_ENST00000539801.1_Missense_Mutation_p.F439S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	439	SH2; atypical.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTTTTGACTTTTGCTGTCGAG	0.313000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				9	12					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47776108	47776108	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47776108G>T	ENST00000489301.2	+	5	1060	c.975G>T	c.(973-975)aaG>aaT	p.K325N	OPN5_ENST00000371211.2_Missense_Mutation_p.K325N|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.K325N			Q6U736	OPN5_HUMAN	opsin 5	325					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAGCAACCAAGAAGAAGTCTC	0.413000													7	68					8.12818e-05	8.79784e-05	1	1	0
CNNM1	26507	broad.mit.edu	37	10	101124759	101124759	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101124759C>T	ENST00000356713.4	+	6	2465	c.2176_splice	c.e6+1	p.L726_splice	CNNM1_ENST00000446890.1_Splice_Site_p.L655_splice|CNNM1_ENST00000370528.3_Splice_Site_p.L655_splice|CNNM1_ENST00000370534.4_Splice_Site_p.L361_splice	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	726					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCTGTCTTTCGTATGTATCT	0.547000													15	16					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47297547	47297547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47297547C>T	ENST00000342922.4	+	4	1114	c.757C>T	c.(757-759)Cga>Tga	p.R253*	MADD_ENST00000402192.2_Nonsense_Mutation_p.R253*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R253*|MADD_ENST00000349238.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395336.3_Nonsense_Mutation_p.R253*|MADD_ENST00000311027.5_Nonsense_Mutation_p.R253*|MADD_ENST00000406482.1_Nonsense_Mutation_p.R253*	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	253	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGATCTATCGATTGCTGCG	0.562000													41	54					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121742491	121742491	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121742491T>G	ENST00000264808.3	-	4	550	c.310A>C	c.(310-312)Aac>Cac	p.N104H	PRDM5_ENST00000428209.2_Missense_Mutation_p.N104H|PRDM5_ENST00000515109.1_Missense_Mutation_p.N104H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	104	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGAAAATGTTTTCTCCTTCC	0.338000													25	33					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56878113	56878113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56878113C>T	ENST00000257287.4	+	21	2888	c.2764C>T	c.(2764-2766)Cga>Tga	p.R922*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	922					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGACATCTTCGAGAAAGAGT	0.383000													16	42					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152273332	152273332	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152273332A>C	ENST00000243326.4	+	5	903	c.420A>C	c.(418-420)atA>atC	p.I140I	RIF1_ENST00000433166.2_Silent_p.I140I|RIF1_ENST00000428287.2_Silent_p.I140I|RIF1_ENST00000453091.2_Silent_p.I140I|RIF1_ENST00000444746.2_Silent_p.I140I|RIF1_ENST00000430328.2_Silent_p.I140I			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	140					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATCCAGTATAATTGATTCAT	0.289000													23	29					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72537800	72537800	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72537800C>T	ENST00000321297.5	+	13	1436	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	433					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTCAAGCTAACGAGGCACCAG	0.612000													37	62					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153195617	153195617	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153195617C>A	ENST00000464845.1	-	8	849	c.531G>T	c.(529-531)gaG>gaT	p.E177D	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.E162D|NAA10_ENST00000393712.3_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	177					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCACCTTGTTCTCGATGGCAC	0.627000													31	58					3.90053e-15	5.12206e-15	1	1	0
AHRR	57491	broad.mit.edu	37	5	353941	353941	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:353941C>T	ENST00000316418.5	+	3	215	c.171C>T	c.(169-171)ttC>ttT	p.F57F	AHRR_ENST00000505113.1_Silent_p.F57F|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Silent_p.F53F	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	57	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCTGCCGTTCCCGCCTGACA	0.622000													20	55					0	0	1	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28897731	28897731	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28897731A>G	ENST00000373830.3	+	7	600	c.574A>G	c.(574-576)Agc>Ggc	p.S192G		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	192	Tyr-rich.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GTACAGTTATAGCTACAACCA	0.428000													28	37					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728757	122728757	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122728757T>C	ENST00000512454.1	+	5	753	c.537T>C	c.(535-537)agT>agC	p.S179S	EXOSC9_ENST00000379663.3_Silent_p.S195S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.S195S			Q06265	EXOS9_HUMAN	exosome component 9	195	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTGTGTCAGTTTTGCCTTTT	0.368000													22	29					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132046653	132046653	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132046653C>T	ENST00000378746.4	-	9	1444	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	KIF3A_ENST00000403231.1_Missense_Mutation_p.R409K|KIF3A_ENST00000378735.1_Missense_Mutation_p.R409K|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	409				R -> RDQA (in Ref. 2; BAD93017).|R -> RDQT (in Ref. 4; AAH45542).|R -> RIQI (in Ref. 1; AAC72294).	blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTTACCCCTTCTTTTTTT	0.378000													24	49					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213578	9213578	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9213578G>T	ENST00000305456.2	-	1	404	c.405C>A	c.(403-405)ctC>ctA	p.L135L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTGCTGCAAGGAGACAATTTT	0.507000													17	76					1.15088e-07	1.32965e-07	1	1	0
GATA4	2626	broad.mit.edu	37	8	11614543	11614543	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11614543C>T	ENST00000335135.4	+	6	1655	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	GATA4_ENST00000528712.1_Missense_Mutation_p.T160M|GATA4_ENST00000532059.1_Missense_Mutation_p.T367M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	366					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.T366K(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCCATCAAGACGGAGCCTGGC	0.657000													39	76					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202510068	202510068	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510068T>C	ENST00000409474.3	-	22	1986	c.1779A>G	c.(1777-1779)caA>caG	p.Q593Q	MPP4_ENST00000428900.2_Silent_p.Q569Q|MPP4_ENST00000447335.2_Silent_p.Q586Q|MPP4_ENST00000315506.7_Silent_p.Q549Q|MPP4_ENST00000359962.5_Silent_p.Q593Q|MPP4_ENST00000396886.3_Silent_p.Q518Q|MPP4_ENST00000409143.1_Silent_p.Q535Q	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	593	Guanylate kinase-like.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GATCAAAAAATTGGCCAAACT	0.418000													19	30					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30248814	30248814	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30248814C>A	ENST00000303775.5	-	6	564		c.e6-1		N6AMT1_ENST00000351429.3_Splice_Site	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)						positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AAAATTTCTTCTAAAATAAAA	0.323000													13	15					0.00136819	0.00143372	1	1	0
BBS7	0	broad.mit.edu	37	4	122749316	122749316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122749316G>T	ENST00000264499.4	-	18	2182	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	BBS7_ENST00000506636.1_Missense_Mutation_p.L667I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	667					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTCTTTCAAGATGTGCAGGT	0.398000									Bardet-Biedl syndrome				12	84					3.07112e-06	3.42433e-06	1	1	0
GK	2710	broad.mit.edu	37	X	30709251	30709251	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30709251C>A	ENST00000378943.3	+	5	528	c.349C>A	c.(349-351)Cta>Ata	p.L117I	GK_ENST00000378945.3_Missense_Mutation_p.L117I|GK_ENST00000427190.1_5'UTR|GK_ENST00000378946.3_Missense_Mutation_p.L117I	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	117					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GTGGCTTGATCTAAGAACCCA	0.289000													20	45					9.62636e-23	1.34149e-22	1	1	0
KIT	3815	broad.mit.edu	37	4	55594177	55594177	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55594177C>T	ENST00000288135.5	+	13	1977	c.1879_splice	c.e13-1	p.P627_splice		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.P627L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAATTTTAGCGAGTGCCCAT	0.433000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				23	48					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25458144	25458144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25458144C>A	ENST00000381884.4	-	16	3966	c.3781G>T	c.(3781-3783)Gaa>Taa	p.E1261*	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1261					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)		ATGCTTTCTTCTTGTCCATCA	0.373000													24	53					6.12954e-19	8.32119e-19	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245849741	245849741	+	Silent	SNP	C	C	T	rs146698496	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:245849741C>T	ENST00000366518.4	+	9	2417	c.2313C>T	c.(2311-2313)gtC>gtT	p.V771V	KIF26B_ENST00000407071.2_Silent_p.V1152V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1152					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAACTCCTGTCGATGATGAGC	0.587000													34	70					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150154631	150154631	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:150154631G>A	ENST00000325307.7	+	3	354	c.258G>A	c.(256-258)aaG>aaA	p.K86K	HMGB3_ENST00000448905.2_Silent_p.K86K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	86					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCAAGAAGAAGAAGGATC	0.408000													11	26					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104122665	104122665	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104122665T>A	ENST00000388887.2	+	48	5178	c.4974T>A	c.(4972-4974)gtT>gtA	p.V1658V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1658	FAS1 5.				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						TGCCCCAGGTTCTTCGGTACC	0.488000													9	100					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158263087	158263087	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158263087G>A	ENST00000368170.3	+	5	1254	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	325					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGTTTAAGAAGCACTGGTGAG	0.393000													18	85					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52780019	52780019	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52780019T>C	ENST00000396947.3	+	4	783	c.617T>C	c.(616-618)cTc>cCc	p.L206P	FST_ENST00000256759.3_Missense_Mutation_p.L206P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	206	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAGCAATATCTCTGTGGGAAT	0.522000													24	44					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5810024	5810024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5810024C>A	ENST00000339450.5	-	8	1624	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	ERMP1_ENST00000543230.1_Missense_Mutation_p.R90I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R288I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	512					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTAATAAAATCTTTTCGCAAG	0.368000													7	43					2.0095e-06	2.25447e-06	1	1	0
PCF11	51585	broad.mit.edu	37	11	82872456	82872456	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82872456A>G	ENST00000298281.4	+	2	732	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	94	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGCCTTTACTAAAAATCTAGT	0.313000													7	17					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104134518	104134518	+	Silent	SNP	C	C	T	rs151219602		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104134518C>T	ENST00000388887.2	+	55	6069	c.5865C>T	c.(5863-5865)ttC>ttT	p.F1955F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1955					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						AGGGCTACTTCGGGCGAGACT	0.547000													16	85					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272343	164272343	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:164272343G>T	ENST00000515560.1	+	4	2440	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NPY5R_ENST00000506953.1_Missense_Mutation_p.E306D|NPY5R_ENST00000338566.3_Missense_Mutation_p.E306D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	306					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTCTCAAGAGAACCACTCCA	0.418000													16	40					0.000422831	0.000449533	1	1	0
IL12RB1	0	broad.mit.edu	37	19	18170414	18170414	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18170414A>G	ENST00000593993.1	-	17	2145	c.1980T>C	c.(1978-1980)cgT>cgC	p.R660R	IL12RB1_ENST00000600835.1_3'UTR|IL12RB1_ENST00000430026.2_3'UTR			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	0					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma 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	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ctgagcctcaacgatcacatc	0.527000													11	17					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134623991	134623991	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:134623991G>A	ENST00000368586.5	-	57	7686	c.7586C>T	c.(7585-7587)tCt>tTt	p.S2529F	TTC40_ENST00000263170.5_Missense_Mutation_p.S690F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	690										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACGGCCAACAGATCTAGGGGA	0.622000													24	63					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55652205	55652205	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55652205T>C	ENST00000310958.6	-	8	2064	c.1766A>G	c.(1765-1767)cAa>cGa	p.Q589R	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.Q589R|CCPG1_ENST00000442196.3_Missense_Mutation_p.Q589R|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	589					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCCATCATTTTGCATAGTAGG	0.348000													35	62					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29111954	29111954	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111954C>T	ENST00000409850.1	-	12	1341	c.695G>A	c.(694-696)gGa>gAa	p.G232E	CPVL_ENST00000396276.3_Missense_Mutation_p.G232E|CPVL_ENST00000265394.5_Missense_Mutation_p.G232E			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	232					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AATAGCAATTCCGTTCAGGTT	0.433000													20	35					0	0	1	0	0
SH2D4A	63898	broad.mit.edu	37	8	19250883	19250883	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19250883G>A	ENST00000265807.3	+	9	1514	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SH2D4A_ENST00000519207.1_Missense_Mutation_p.G368D|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G323D	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	368	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGCATGCCCGGCAGTTTTCTC	0.473000													5	88					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67064644	67064644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67064644G>T	ENST00000315962.4	+	8	1391	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E340*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E340*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	340						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			agaaggcggagaaggagaaaa	0.418000													9	11					0.000274275	0.000292037	1	1	0
SASS6	163786	broad.mit.edu	37	1	100575956	100575956	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100575956T>C	ENST00000287482.5	-	8	893	c.753A>G	c.(751-753)caA>caG	p.Q251Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q84Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	251					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACAGTCTGTTTTGTAGCTGGT	0.353000													4	48					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649870	232649870	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232649870C>T	ENST00000366630.1	-	2	1574	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V406I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	406					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAACTAAGGACGAGGTCGTTA	0.527000													58	130					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115574871	115574871	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115574871A>C	ENST00000371900.4	+	5	657	c.569A>C	c.(568-570)aAa>aCa	p.K190T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	190					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CAAATGAATAAAAGCTGGGTA	0.363000													7	28					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122112	46122112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:46122112C>A	ENST00000374366.3	-	8	1402	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000344646.5_Nonsense_Mutation_p.E387*			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	387							zinc ion binding										GTTACACATTCTTCTGAAGGT	0.438000													33	57					1.74807e-11	2.17561e-11	1	1	0
RALGPS2	55103	broad.mit.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S511L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333000													12	22					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132218600	132218600	+	Missense_Mutation	SNP	G	G	A	rs143638513	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132218600G>A	ENST00000260818.6	+	38	4612	c.4364G>A	c.(4363-4365)cGc>cAc	p.R1455H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1455							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCATTTAGTCGCTGTGTGGCT	0.418000													44	121					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39313115	39313115	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:39313115G>A	ENST00000381897.1	-	12	1571	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	480	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCATAGTCCGAATCAGATTC	0.363000													15	19					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472354	71472354	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71472354G>A	ENST00000322937.6	+	13	1354	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	AMBN_ENST00000449493.2_Silent_p.T402T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	417					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512000													38	70					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18626974	18626974	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18626974C>T	ENST00000379989.3	+	14	2273	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	CDKL5_ENST00000379996.3_Missense_Mutation_p.S663L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	663					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCAAGATCTTCGGTCAAAGAG	0.438000													4	41					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401572G>T	ENST00000330010.8	+	10	1421	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M	NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000334785.7_Missense_Mutation_p.R439M	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	439	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313000													13	19					7.03913e-09	8.36985e-09	1	1	0
TAF1B	9014	broad.mit.edu	37	2	10050892	10050892	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10050892T>C	ENST00000263663.5	+	10	1171	c.983T>C	c.(982-984)gTg>gCg	p.V328A	TAF1B_ENST00000396242.3_Missense_Mutation_p.V73A	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	328					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTGCCACGTGGTAAAAATG	0.343000													4	53					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41680707	41680707	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:41680707T>C	ENST00000260361.4	-	4	1154	c.773A>G	c.(772-774)aAa>aGa	p.K258R		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	258					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GAAGAAAAATTTGGAAAAAGG	0.343000													11	26					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104492166	104492166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104492166C>T	ENST00000229330.4	+	13	1890	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	596	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.R596*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGCGGGAGAACGACAATGGTG	0.358000													15	26					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929102	32929102	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929102G>T	ENST00000361627.3	+	12	2850	c.2128G>T	c.(2128-2130)Gat>Tat	p.D710Y	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	710					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.D710H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TATGCCAAAAGATTATTTAAG	0.284000													17	26					6.94344e-10	8.4399e-10	1	1	0
ATF6	22926	broad.mit.edu	37	1	161882144	161882144	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161882144T>G	ENST00000367942.3	+	15	1845	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	593					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AAAATGTCAATTGTGTTACCA	0.328000													10	29					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430447	27430447	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27430447G>T	ENST00000310574.3	-	3	545	c.72C>A	c.(70-72)ttC>ttA	p.F24L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.F24L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	24					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCATGATGGAGAAGGTAGACA	0.567000													20	48					3.51602e-12	4.42195e-12	1	1	0
ESF1	51575	broad.mit.edu	37	20	13755837	13755837	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13755837A>C	ENST00000202816.1	-	4	1222	c.1115T>G	c.(1114-1116)tTt>tGt	p.F372C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTGGGTTTAAATGAATTGAA	0.308000													35	61					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169828434	169828434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169828434C>A	ENST00000263817.6	-	14	1685	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	521	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTTGCATCTTCTCTGCCATAG	0.473000													16	41					6.31663e-08	7.35827e-08	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196912086	196912086	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196912086T>C	ENST00000312428.6	-	5	488	c.388A>G	c.(388-390)Aat>Gat	p.N130D	DNAH7_ENST00000410072.1_Missense_Mutation_p.N130D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	130	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAATGACATTAACAAGAGTA	0.378000													12	52					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71507979	71507979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71507979C>T	ENST00000396073.3	+	9	1117	c.836C>T	c.(835-837)aCt>aTt	p.T279I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	279					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGACTAAACACTGGGAACAAC	0.532000													11	75					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432692	50432692	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50432692T>G	ENST00000442544.2	+	3	1307	c.691T>G	c.(691-693)Tta>Gta	p.L231V	DCC_ENST00000412726.1_Missense_Mutation_p.L79V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	231					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)		AGTCAGAATTTTATCAGGTAT	0.383000													30	41					0	0	1	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98169646	98169646	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98169646C>A	ENST00000443455.1	-	0	1368							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CCAGATTTTTCTCCATCCTTT	0.358000													12	18					5.50884e-06	6.10489e-06	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102067366	102067366	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102067366C>T	ENST00000549145.1	+	25	2893	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	MYBPC1_ENST00000547405.1_Silent_p.F874F|MYBPC1_ENST00000551300.1_Silent_p.F801F|MYBPC1_ENST00000452455.2_Silent_p.F918F|MYBPC1_ENST00000360610.2_Silent_p.F918F|MYBPC1_ENST00000392934.3_Silent_p.F887F|MYBPC1_ENST00000441232.1_Silent_p.F918F|MYBPC1_ENST00000361466.2_Silent_p.F925F|MYBPC1_ENST00000536007.1_Silent_p.F881F|MYBPC1_ENST00000541119.1_Silent_p.F888F|MYBPC1_ENST00000547509.1_Silent_p.F886F|MYBPC1_ENST00000545503.2_Silent_p.F900F|MYBPC1_ENST00000553190.1_Silent_p.F900F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.F918F|MYBPC1_ENST00000361685.2_Silent_p.F925F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	918	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.F925L(1)|p.F918L(1)		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						TGGACAAATTCGTGGAGACCG	0.418000													57	114					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216263	111216263	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216263G>A	ENST00000369769.2	-	1	1392	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	390				T -> S (in Ref. 5; AAA36425).		voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCCTTCAGCGTTTGCCCGAG	0.587000													50	81					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902789	23902789	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23902789G>A	ENST00000355349.3	-	3	315	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	51	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGAGACACGATCTTGGCCT	0.557000													25	47					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328000													3	28					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54645982	54645982	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54645982T>C	ENST00000209875.4	-	3	303	c.167A>G	c.(166-168)aAc>aGc	p.N56S	CBX5_ENST00000439541.2_Missense_Mutation_p.N56S|CBX5_ENST00000550411.1_Missense_Mutation_p.N56S	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	56	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						GCAATCCAAGTTTTTCTCAGG	0.368000													16	27					0	0	1	0	0
GABRB2	0	broad.mit.edu	37	5	160753387	160753387	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160753387G>T	ENST00000274547.2	-	10	1396	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.F393L|GABRB2_ENST00000517901.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	393					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATACAGAGAGAAATCGTaat	0.373000													7	31					0.0381472	0.0387537	1	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291629	141291629	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291629C>A	ENST00000247452.3	-	3	492	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	49	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAAATACTAAGTACAAA	0.517000										HNSCC(46;0.14)			65	118					2.19297e-23	3.06666e-23	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554554	20554554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20554554G>A	ENST00000329697.6	-	11	1480	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R359*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R438*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R438*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	438					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						AAGTCTCCTCGAATGTTGGCT	0.512000													8	179					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008215	121008215	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121008215C>T	ENST00000392793.1	+	11	3298	c.3027C>T	c.(3025-3027)tgC>tgT	p.C1009C	TECTA_ENST00000264037.2_Silent_p.C1009C			O75443	TECTA_HUMAN	tectorin alpha	1009	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCCCATCTGCGTGGATAGCT	0.577000													33	57					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530619	47530619	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:47530619T>G	ENST00000426342.1	-	7	1210	c.464A>C	c.(463-465)gAg>gCg	p.E155A	MDGA2_ENST00000399232.2_Missense_Mutation_p.E453A|MDGA2_ENST00000439988.2_Missense_Mutation_p.E384A|MDGA2_ENST00000357362.3_Missense_Mutation_p.E155A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	384	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACCATCCGCTCAGAACTTCT	0.413000													28	53					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95884214	95884214	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95884214G>A	ENST00000334258.5	-	17	2891	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	SYNE3_ENST00000554873.1_Silent_p.F716F|SYNE3_ENST00000557275.1_Silent_p.F954F	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						AGGAGCGGGCGAAGTTGTTGG	0.612000													58	97					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7803651	7803651	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7803651A>G	ENST00000229304.4	-	4	549	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	177					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGTGCGTACAACATCATCCAC	0.443000													12	114					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43797628	43797628	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43797628T>G	ENST00000403856.1	-	15	2233	c.2086A>C	c.(2086-2088)Agt>Cgt	p.S696R	THADA_ENST00000405006.4_Missense_Mutation_p.S696R|THADA_ENST00000330266.7_Missense_Mutation_p.S406R|THADA_ENST00000415080.2_Missense_Mutation_p.S406R|THADA_ENST00000405975.2_Missense_Mutation_p.S696R|THADA_ENST00000404790.1_Missense_Mutation_p.S696R|THADA_ENST00000402360.2_Missense_Mutation_p.S696R			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	696							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCTGAGAACTTTCCTGTATC	0.363000													10	23					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557000													16	31					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082687	113082687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113082687G>A	ENST00000409871.1	+	11	2400	c.1999G>A	c.(1999-2001)Gct>Act	p.A667T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A667T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	667							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGTGCAAAGAGCTCTTTTTGT	0.517000													16	37					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745125	42745125	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42745125C>T	ENST00000409122.2	+	5	1988	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	C17orf104_ENST00000409464.1_Missense_Mutation_p.H450Y|C17orf104_ENST00000359945.3_Missense_Mutation_p.H616Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	616										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCAGAGTGGACATTATGATCC	0.383000													3	21					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650001	75650001	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:75650001C>A	ENST00000361470.2	+	1	1956	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	560	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTACATTCTGTTAAACAA	0.483000													12	26					0.00010058	0.000108553	1	1	0
SEPT3	55964	broad.mit.edu	37	22	42377819	42377819	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42377819G>A	ENST00000396425.3	+	2	312	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SEPT3_ENST00000396426.3_Missense_Mutation_p.D61N|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.D61N|SEPT3_ENST00000406029.1_Intron|CTA-250D10.19_ENST00000424613.1_RNA	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	61					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GACCGGTTTCGACTTCAACAT	0.567000													16	20					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277721	159277721	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159277721G>T	ENST00000368115.1	+	6	872	c.773G>T	c.(772-774)tGa>tTa	p.*258L	FCER1A_ENST00000368114.1_Nonstop_Mutation_p.*225L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	0						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AAAAACAACTGATATAATTAC	0.378000													10	22					0.0692343	0.0701576	1	1	0
STRC	161497	broad.mit.edu	37	15	43892823	43892823	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43892823C>A	ENST00000450892.2	-	26	4979	c.4902G>T	c.(4900-4902)gaG>gaT	p.E1634D	STRC_ENST00000541030.1_Missense_Mutation_p.E861D	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1634					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGCCAGAACCTCCAGTTGTT	0.542000													17	77					3.45872e-05	3.78815e-05	1	1	0
ASF1A	25842	broad.mit.edu	37	6	119226904	119226904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119226904G>T	ENST00000229595.5	+	3	507	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	105	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCGAGGACAAGAATTTATTAG	0.358000													33	50					3.99451e-17	5.34789e-17	1	1	0
L1TD1	54596	broad.mit.edu	37	1	62676247	62676247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62676247G>T	ENST00000498273.1	+	4	2096	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	601										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCACACAGAAGAACTAACATC	0.348000													11	21					2.80697e-09	3.36108e-09	1	1	0
FKBP10	60681	broad.mit.edu	37	17	39978543	39978543	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39978543G>T	ENST00000321562.4	+	10	1736	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	FKBP10_ENST00000544340.1_Missense_Mutation_p.E317D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	544	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGACCCTGAGAAAACCATAG	0.602000													7	21					0.0293803	0.0299069	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225668910	225668910	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225668910T>G	ENST00000409592.3	-	39	4282	c.4169A>C	c.(4168-4170)aAa>aCa	p.K1390T	DOCK10_ENST00000258390.7_Missense_Mutation_p.K1396T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1396							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGCACAAATTTAAATGCAGC	0.373000													7	19					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3781836	3781836	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3781836C>T	ENST00000324932.7	-	10	1527	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	NUP98_ENST00000355260.3_Silent_p.K369K|NUP98_ENST00000397007.4_Silent_p.K369K|NUP98_ENST00000397004.4_Silent_p.K369K|NUP98_ENST00000359171.4_Silent_p.K369K	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	369	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGTAGTAAGCTTGTTATTGC	0.383000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								16	44					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107705011	107705011	+	Missense_Mutation	SNP	G	G	A	rs149485264		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107705011G>A	ENST00000445937.1	+	7	842	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	OXR1_ENST00000312046.6_Missense_Mutation_p.R187Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.R194Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R194Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R195Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R127Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	195					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.R106Q(1)|p.R195Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACTGGTATTCGACCTGCACGA	0.343000													14	23					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021796	5021796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5021796G>T	ENST00000382545.3	+	2	2359	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	418					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTACCACCGAGAAACTGAGGG	0.527000													73	170					1.93348e-29	2.75448e-29	1	1	0
BCCIP	56647	broad.mit.edu	37	10	127519170	127519170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127519170G>T	ENST00000299130.3	+	4	373	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.E121*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Nonsense_Mutation_p.E121*	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	121	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATATGGATGAAGATGAGGT	0.303000													4	96					1	1	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52287292	52287292	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52287292C>T	ENST00000356297.4	-	18	3658		c.e18-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like						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)				GCCGTACAACCTGGAACAGAG	0.468000													12	18					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57511760	57511760	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57511760C>A	ENST00000343827.3	+	1	97	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	TCF12_ENST00000543579.1_Missense_Mutation_p.S14Y|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000438423.2_Intron|TCF12_ENST00000557843.1_Intron	NM_207040.1	NP_996923.1	Q99081	HTF4_HUMAN	transcription factor 12	0					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGCAGCAATTCTTTGATGTAT	0.358000			T	TEC	extraskeletal myxoid chondrosarcoma								7	11					5.18039e-06	5.75679e-06	1	1	0
COG6	57511	broad.mit.edu	37	13	40261896	40261896	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:40261896G>T	ENST00000416691.1	+	10	1069	c.969G>T	c.(967-969)aaG>aaT	p.K323N	COG6_ENST00000455146.3_Missense_Mutation_p.K323N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	323					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTTCTGAAAAGGAACACCTTG	0.368000													10	31					0.0581538	0.0589718	1	1	0
GTF2E2	2961	broad.mit.edu	37	8	30464620	30464620	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30464620T>G	ENST00000355904.4	-	6	879	c.597A>C	c.(595-597)aaA>aaC	p.K199N	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	199					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AGAAAAGTATTTTCTTCTTAT	0.328000													16	38					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365881	37365881	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37365881G>T	ENST00000361924.2	+	14	2878	c.2504G>T	c.(2503-2505)aGa>aTa	p.R835I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R857I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	835	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAACAGAAAGAATTCTTCTT	0.413000													34	83					1.62565e-12	2.05093e-12	1	1	0
ZNF558	148156	broad.mit.edu	37	19	8922567	8922567	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8922567C>A	ENST00000601372.1	-	10	1310	c.599G>T	c.(598-600)aGa>aTa	p.R200I	ZNF558_ENST00000444186.2_Missense_Mutation_p.R129I|ZNF558_ENST00000301475.1_Missense_Mutation_p.R200I			Q96NG5	ZN558_HUMAN	zinc finger protein 558	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ATTATGGATTCTCTTATGAAT	0.408000													4	54					2.56e-06	2.86294e-06	1	1	0
COBLL1	22837	broad.mit.edu	37	2	165551579	165551579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551579C>A	ENST00000375458.2	-	11	2544	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E813*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E813*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E880*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.E851*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	851										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGGCAGTTTCTTTCACATTC	0.418000													36	58					2.20474e-14	2.87106e-14	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3789684	3789684	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3789684C>T	ENST00000262367.5	-	25	4984	c.4175G>A	c.(4174-4176)cGa>cAa	p.R1392Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1392	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTTTGGTTCGATATGGGAA	0.473000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						17	43					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97198185	97198185	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97198185G>T	ENST00000389672.5	+	9	2089	c.2051G>T	c.(2050-2052)aGa>aTa	p.R684I	EPHA6_ENST00000502694.1_Missense_Mutation_p.R76I|EPHA6_ENST00000514100.1_Missense_Mutation_p.R76I|EPHA6_ENST00000442602.2_Missense_Mutation_p.R50I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	589	Protein kinase.					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						GAGAAGAGAAGAAACCACTTA	0.333000													3	13					0.00909568	0.00935351	1	1	0
GPR110	266977	broad.mit.edu	37	6	46979827	46979827	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46979827A>C	ENST00000371253.2	-	10	1247	c.1032T>G	c.(1030-1032)aaT>aaG	p.N344K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N147K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	344					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						CCGAAGCCAGATTCCCCACTG	0.483000													40	65					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52900777	52900777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52900777A>C	ENST00000261844.7	-	6	2486	c.2334T>G	c.(2332-2334)aaT>aaG	p.N778K	FAM214A_ENST00000546305.2_Missense_Mutation_p.N785K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	778																	ATACCTCTGTATTTTTTGGTT	0.318000													29	34					0	0	1	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122566	33122566	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33122566C>T	ENST00000417166.2	+	3	247	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	DYNLRB1_ENST00000357156.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	72					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	p.R72C(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CCTTCGAATTCGCTCCAAGAA	0.527000													31	48					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47404165	47404165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47404165C>T	ENST00000285039.7	-	25	3663	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1122					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTGTCTCCGATCTCAGAT	0.507000													31	47					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982477	7982477	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982477C>T	ENST00000328600.2	-	2	843	c.682G>A	c.(682-684)Ggg>Agg	p.G228R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	228	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTGTCCCCGCAGCACCAG	0.522000													17	36					0	0	1	0	0
TMEM25	84866	broad.mit.edu	37	11	118404598	118404598	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118404598T>G	ENST00000524725.1	+	4	1112	c.700T>G	c.(700-702)Tca>Gca	p.S234A	TMEM25_ENST00000354284.4_Missense_Mutation_p.S278A|TMEM25_ENST00000544878.1_Missense_Mutation_p.S181A|TMEM25_ENST00000359862.4_Missense_Mutation_p.S234A|TMEM25_ENST00000442938.2_Missense_Mutation_p.S234A|TMEM25_ENST00000533102.1_Missense_Mutation_p.S278A|TMEM25_ENST00000354064.7_Missense_Mutation_p.S130A|TMEM25_ENST00000411589.2_Missense_Mutation_p.S234A|TMEM25_ENST00000313236.5_Missense_Mutation_p.S278A			Q86YD3	TMM25_HUMAN	transmembrane protein 25	278						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCTCTGATATCAAGGTAACT	0.577000													11	130					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235920	37235920	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37235920G>A	ENST00000233099.5	-	28	4451	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D	HEATR5B_ENST00000354531.2_Silent_p.D1452D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1452							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATCATCATCGTCAGTATTTT	0.378000													55	88					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4703813G>T	ENST00000396950.3	-	2	368	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507000													35	67					9.65963e-10	1.17364e-09	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20740310	20740310	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20740310A>C	ENST00000380249.1	+	7	727	c.363A>C	c.(361-363)gaA>gaC	p.E121D	FOCAD_ENST00000338382.6_Missense_Mutation_p.E121D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	121						integral to membrane	binding										AAGGTGGGGAAAAGAATATTC	0.289000													19	34					0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110902914	110902914	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110902914C>A	ENST00000543199.1	-	2	355	c.271G>T	c.(271-273)Gct>Tct	p.A91S	GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_Missense_Mutation_p.A62S|GPN3_ENST00000228827.3_Missense_Mutation_p.A52S	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	52						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						GACTTACCAGCCATCACGGAG	0.522000													15	31					4.7546e-09	5.67505e-09	1	1	0
CLCN6	1185	broad.mit.edu	37	1	11888619	11888619	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11888619T>C	ENST00000346436.6	+	12	1111	c.1059T>C	c.(1057-1059)tgT>tgC	p.C353C	CLCN6_ENST00000376496.3_Silent_p.C353C|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Silent_p.C331C|CLCN6_ENST00000376492.3_Intron	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					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)		CATTCAACTGTCTGAACAAGA	0.542000													101	189					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133748273	133748273	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133748273T>C	ENST00000318560.5	+	6	1315	c.934T>C	c.(934-936)Tat>Cat	p.Y312H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	312	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCCCCGTTCTATATCATCAC	0.557000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								17	70					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33829907	33829907	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33829907G>T	ENST00000300255.2	+	3	833	c.360G>T	c.(358-360)aaG>aaT	p.K120N	EVA1C_ENST00000382699.3_Missense_Mutation_p.K120N|EVA1C_ENST00000401402.3_Missense_Mutation_p.K120N	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		CCTTCTAGAAGGTGCTGGACG	0.557000													33	43					3.11337e-16	4.1367e-16	1	1	0
FAM217B	63939	broad.mit.edu	37	20	58519545	58519545	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58519545G>T	ENST00000358293.3	+	5	962	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	FAM217B_ENST00000360816.3_Missense_Mutation_p.D183Y|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	183																	GAAGTATATCGATAGACTTAT	0.547000													24	43					3.5997e-14	4.67138e-14	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17353254	17353254	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17353254G>A	ENST00000261381.6	-	3	588	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	168					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGGTGCGAAGTTGCTGT	0.498000													45	69					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33763477	33763477	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33763477G>A	ENST00000526785.1	-	10	4805	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	FBXO3_ENST00000532057.1_Missense_Mutation_p.R152C|FBXO3_ENST00000531080.1_Missense_Mutation_p.R152C|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.R465C			Q9UK99	FBX3_HUMAN	F-box protein 3	465	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GAGCAGCGGCGTCTGCGAATG	0.428000													15	44					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33083232	33083232	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33083232A>C	ENST00000334274.4	+	7	1332	c.932A>C	c.(931-933)aAg>aCg	p.K311T	TCP11L1_ENST00000531632.2_Missense_Mutation_p.K311T|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K311T|TCP11L1_ENST00000324357.9_Missense_Mutation_p.K90T	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	311										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCTTACCTGAAGCTTCTGAAG	0.527000													8	28					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122071311	122071311	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122071311C>A	ENST00000454328.1	-	8	783	c.556G>T	c.(556-558)Gtg>Ttg	p.V186L	TNIP3_ENST00000507879.1_Missense_Mutation_p.V256L|TNIP3_ENST00000057513.3_Missense_Mutation_p.V186L|TNIP3_ENST00000509841.1_Missense_Mutation_p.V263L			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	186										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CAGAATTCCACTCGAGACTTC	0.438000													18	27					2.5808e-16	3.43231e-16	1	1	0
TAF15	8148	broad.mit.edu	37	17	34163181	34163181	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34163181G>T	ENST00000588240.1	+	10	834	c.719G>T	c.(718-720)gGa>gTa	p.G240V	TAF15_ENST00000311979.3_Missense_Mutation_p.G237V|TAF15_ENST00000592237.1_Missense_Mutation_p.G149V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	240	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTTGTGCAAGGACTTGGGGAG	0.318000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								16	24					5.03518e-11	6.23768e-11	1	1	0
ZNF227	7770	broad.mit.edu	37	19	44740349	44740349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44740349C>A	ENST00000313040.7	+	6	1971	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S538*|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S538*|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTTGGAGATCAAATCTTCAT	0.388000													33	35					4.74835e-14	6.14782e-14	1	1	0
ATP1B3	483	broad.mit.edu	37	3	141644523	141644523	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141644523A>C	ENST00000286371.3	+	7	1008	c.820A>C	c.(820-822)Aaa>Caa	p.K274Q	ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.K84Q	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	274					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						AGTTATGTTCAAAATCACAGC	0.403000													49	110					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72740314	72740314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72740314C>A	ENST00000272427.6	-	11	1244	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E372*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	372					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						TCCCACAGTTCATCAATGTAG	0.408000													21	30					6.33239e-15	8.29613e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179596486	179596486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596486C>T	ENST00000589042.1	-	58	17340	c.17116G>A	c.(17116-17118)Gaa>Aaa	p.E5706K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4462K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5389K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5389	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4462K(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)			CACTGGTATTCGCCAGCATCT	0.488000													41	85					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154271250	154271250	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154271250G>T	ENST00000240488.3	+	2	127	c.38G>T	c.(37-39)aGa>aTa	p.R13I	MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	13					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAGAAAAGAGAACTCGCATG	0.279000													10	39					4.68919e-08	5.48405e-08	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79932799	79932799	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932799C>A	ENST00000373275.4	-	41	4934	c.4718G>T	c.(4717-4719)aGa>aTa	p.R1573I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1573										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGTAGTTTTCTCTTGATTCC	0.368000													16	18					2.23348e-06	2.50077e-06	1	1	0
CA5B	11238	broad.mit.edu	37	X	15800776	15800776	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15800776G>A	ENST00000318636.3	+	8	1079	c.943G>A	c.(943-945)Gca>Aca	p.A315T	CA5B_ENST00000454127.2_Missense_Mutation_p.A315T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	315					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CACCAGCCAAGCAACCCCCTA	0.438000													18	59					0	0	1	0	0
WBP11P1	0	broad.mit.edu	37	18	30093424	30093424	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:30093424A>G	ENST00000567636.1	+	0	1799					NR_003558.1																						GAACCCTGAGATTTTAAGTGC	0.542000													52	100					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52066985	52066985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52066985G>A	ENST00000361781.2	-	11	2118	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	393					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493000													21	29					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151765812	151765812	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151765812T>C	ENST00000535741.1	-	27	4932	c.4459A>G	c.(4459-4461)Aag>Gag	p.K1487E	LRBA_ENST00000510413.1_Missense_Mutation_p.K1487E|LRBA_ENST00000507224.1_Missense_Mutation_p.K1487E|LRBA_ENST00000357115.3_Missense_Mutation_p.K1487E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATACTTACCTTCGCTGCAGAT	0.323000													15	21					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346072	11346072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11346072C>T	ENST00000376810.5	+	2	1227	c.901C>T	c.(901-903)Cga>Tga	p.R301*	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	301					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGACAGTTTCGAAGCCAGGC	0.567000													59	123					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625574	154625574	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154625574A>C	ENST00000260010.6	+	1	2923	c.1515A>C	c.(1513-1515)aaA>aaC	p.K505N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	505					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TAGTATTGAAAATCAGTAGGA	0.378000													26	38					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58199270	58199270	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58199270C>T	ENST00000282296.5	+	3	1812	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R527C|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTTAGACAGCGCTCTGGCCT	0.443000													23	60					0	0	1	0	0
TAS2R50	259296	broad.mit.edu	37	12	11139431	11139431	+	Nonsense_Mutation	SNP	G	G	T	rs79147066		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11139431G>T	ENST00000506868.1	-	1	80	c.29C>A	c.(28-30)tCa>tAa	p.S10*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAAT	0.318000													16	42					4.7546e-09	5.67505e-09	1	1	0
WSB1	26118	broad.mit.edu	37	17	25639387	25639387	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:25639387C>T	ENST00000262394.2	+	9	1574	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	WSB1_ENST00000348811.2_Missense_Mutation_p.R274C	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	420	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCTCTCGTATCGTATTTAGAA	0.423000													86	151					0	0	1	0	0
AC007276.5	0	broad.mit.edu	37	7	29727089	29727089	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29727089G>T	ENST00000602980.1	+	0	907					NR_036482.1																						TCACTTTAAAGAATTATTGTA	0.274000													8	7					0.27861	0.279356	1	1	0
TRBV3-1	0	broad.mit.edu	37	7	142008744	142008744	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142008744C>A	ENST00000390387.3	+	0	264																											TAATAAGGAGCTCATTATAAA	0.358000													29	63					3.65163e-15	4.79858e-15	1	1	0
UBR4	23352	broad.mit.edu	37	1	19477235	19477235	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19477235A>C	ENST00000375267.2	-	49	7269	c.7266T>G	c.(7264-7266)atT>atG	p.I2422M	UBR4_ENST00000375226.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375217.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375254.3_Missense_Mutation_p.I2422M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2422					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.I2422I(1)		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)		TCTTGCCATAAATTTTTACAG	0.488000													115	210					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28968937C>T	ENST00000359747.4	+	5	502	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S158L|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413000													26	55					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415317	46415317	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46415317C>A	ENST00000343801.4	+	3	1281	c.924C>A	c.(922-924)ctC>ctA	p.L308L	CCR5_ENST00000445772.1_Silent_p.L308L|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.L308L	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	308					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAAACTACCTCTTAGTCTTCT	0.493000													51	83					5.85753e-14	7.57693e-14	1	1	0
PCNX	22990	broad.mit.edu	37	14	71478246	71478246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71478246C>T	ENST00000304743.2	+	10	3204	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.R814*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.R920*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	920						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TACCTCAGTTCGATTTTATCC	0.269000													4	23					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123067340	123067340	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123067340A>G	ENST00000333479.7	+	34	3248	c.3071A>G	c.(3070-3072)gAa>gGa	p.E1024G	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1024					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAAGCTCACGAAGTTGCACAG	0.498000													11	17					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64374680	64374680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64374680C>A	ENST00000265459.6	-	23	5588	c.5127G>T	c.(5125-5127)gaG>gaT	p.E1709D	NRXN2_ENST00000377551.1_Missense_Mutation_p.E1709D|NRXN2_ENST00000301894.2_Missense_Mutation_p.E663D|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1702D|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1639D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1709					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGACATAATACTCCTTGTCTT	0.662000													11	25					0.010729	0.0110271	1	1	0
RALB	5899	broad.mit.edu	37	2	121043504	121043504	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043504C>A	ENST00000272519.5	+	3	439	c.169C>A	c.(169-171)Ctt>Att	p.L57I	RALB_ENST00000420510.1_Missense_Mutation_p.L57I|RALB_ENST00000474855.2_Missense_Mutation_p.L79I|RALB_ENST00000404963.3_Missense_Mutation_p.L78I|RALB_ENST00000470417.1_Intron	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	57					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GAAAGTGGTTCTTGATGGGGA	0.418000													17	40					1.33834e-09	1.61283e-09	1	1	0
MTRR	4552	broad.mit.edu	37	5	7870968	7870968	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7870968G>A	ENST00000264668.2	+	2	172	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTRR_ENST00000440940.2_Missense_Mutation_p.E21K|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Missense_Mutation_p.E21K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	48	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CATCGCAGAAGAAATATGTGA	0.428000													6	62					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22833502	22833502	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22833502G>T	ENST00000454584.2	+	8	1187	c.882G>T	c.(880-882)atG>atT	p.M294I	GAS2_ENST00000278187.3_Missense_Mutation_p.M294I|GAS2_ENST00000433790.1_Missense_Mutation_p.M294I	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	294					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAAAGGACATGAATCCAGATA	0.453000													25	42					7.07758e-08	8.2413e-08	1	1	0
TTC5	91875	broad.mit.edu	37	14	20760161	20760161	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20760161C>T	ENST00000258821.3	-	9	1240	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	395					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GTGCTGAATTCGGTGAAGCCG	0.448000													19	33					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843539	106843539	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106843539T>G	ENST00000276185.4	+	16	2369	c.2369T>G	c.(2368-2370)aTt>aGt	p.I790S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	790						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCAGGTCTGATTGTGCTGGCC	0.493000													9	20					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24509172	24509172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24509172A>C	ENST00000355123.4	-	16	2215	c.1772T>G	c.(1771-1773)tTa>tGa	p.L591*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L591*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L591*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	591					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTGGCATAATTCTTCCTT	0.308000													4	33					0	0	1	0	0
CYP2B7P1	0	broad.mit.edu	37	19	41450252	41450252	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41450252G>T	ENST00000599198.1	+	0	1035					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCTACAAGGAGATTGAACAGG	0.498000													3	18					1	1	1	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987116	15987116	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987116C>T	ENST00000345034.1	+	1	753	c.753C>T	c.(751-753)atC>atT	p.I251I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	251					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGGAAATCGATACAGCTC	0.418000													18	54					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84386806	84386806	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84386806C>T	ENST00000260505.8	-	12	1705	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	443					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGTTCTTCTCGTGAGATCTG	0.323000													22	33					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532613	100532613	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100532613C>T	ENST00000372907.3	-	9	941	c.930G>A	c.(928-930)aaG>aaA	p.K310K	TAF7L_ENST00000356784.1_Silent_p.K224K|TAF7L_ENST00000324762.6_Silent_p.K224K|TAF7L_ENST00000372905.2_Silent_p.K224K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	310					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TATGACCCTGCTTGTGGCTGC	0.438000													60	140					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567518	58567518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58567518G>T	ENST00000348616.4	+	10	1669	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	CDH26_ENST00000244047.5_Nonsense_Mutation_p.E457*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	457	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATTGACCGAGAATCCCCTCA	0.403000													4	35					0.00024832	0.000265255	1	1	0
TUBAL3	79861	broad.mit.edu	37	10	5435795	5435795	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5435795C>T	ENST00000380419.3	-	4	1063	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	TUBAL3_ENST00000479328.1_Silent_p.T302T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	342					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCCTCGACTTCGTGGCTGCGA	0.562000													24	45					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29533290	29533290	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:29533290G>A	ENST00000373791.3	-	4	678	c.306C>T	c.(304-306)ttC>ttT	p.F102F	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Silent_p.F178F	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	178					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCAGTTGCTCGAAGTCCATCA	0.592000													24	52					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100169404	100169404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100169404C>T	ENST00000547776.2	-	7	882	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E295K|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	295						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACAGGCTCTTCGAGGACTGTA	0.348000													12	11					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89052995	89052995	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89052995C>T	ENST00000237612.3	-	4	883	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	113	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATTGGCAGGTCGCGGTGCTCC	0.393000													7	24					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087781	92087781	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92087781A>C	ENST00000298047.6	+	1	2520	c.2503A>C	c.(2503-2505)Agt>Cgt	p.S835R	FAT3_ENST00000525166.1_Missense_Mutation_p.S685R|FAT3_ENST00000541502.1_Missense_Mutation_p.S835R|FAT3_ENST00000409404.2_Missense_Mutation_p.S835R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	835	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCAAGACAGTTACTCAGT	0.398000										TCGA Ovarian(4;0.039)			20	17					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66599214	66599214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66599214C>A	ENST00000319194.5	+	3	358	c.97C>A	c.(97-99)Ctc>Atc	p.L33I	DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319212.4_Missense_Mutation_p.L116I	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	116					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTGCATTCTCTTTGCTAA	0.478000													21	48					4.35082e-09	5.20082e-09	1	1	0
MCMBP	79892	broad.mit.edu	37	10	121600381	121600381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:121600381G>A	ENST00000360003.3	-	11	1391	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.R406*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	408					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGAATAATTCGATACAAGTGT	0.333000													14	22					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278454	50278454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50278454G>A	ENST00000442544.2	+	2	738	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	41	Ig-like C2-type 1.				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)		ACAGCACTGCGCTTCCTCTCA	0.483000													13	17					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107532	168107532	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168107532G>A	ENST00000409195.1	+	9	9719	c.9630G>A	c.(9628-9630)aaG>aaA	p.K3210K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K3210K|XIRP2_ENST00000409273.1_Silent_p.K2988K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3035					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						TTGTAGAGAAGAGGTCTGAAA	0.458000													35	64					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494314	7494314	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7494314G>T	ENST00000486284.1	+	6	1469	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y|GRM7_ENST00000357716.4_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	399					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.D399Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AATTGGAAAAGATTCCAACTA	0.433000													11	51					3.07112e-06	3.42433e-06	1	1	0
ZNF100	163227	broad.mit.edu	37	19	21909894	21909894	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21909894C>T	ENST00000358296.6	-	5	1418	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	ZNF100_ENST00000305570.6_Missense_Mutation_p.G343D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGCCTTTGCCGCATTCTTC	0.378000													7	48					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911760	32911760	+	Missense_Mutation	SNP	A	A	C	rs80359381		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32911760A>C	ENST00000544455.1	+	11	3495	c.3268A>C	c.(3268-3270)Atg>Ctg	p.M1090L	BRCA2_ENST00000380152.3_Missense_Mutation_p.M1090L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1090					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACCCCTCAGATGTTATTTTC	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	54					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839659	128839659	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:128839659G>T	ENST00000310343.9	-	22	5406	c.5407C>A	c.(5407-5409)Ctt>Att	p.L1803I	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1803	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGAGAGAAGTCCAGTTTTC	0.547000													18	97					6.94344e-10	8.4399e-10	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671102	151671102	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671102A>C	ENST00000402676.2	+	4	1816	c.1576A>C	c.(1576-1578)Aaa>Caa	p.K526Q	AKAP12_ENST00000253332.1_Missense_Mutation_p.K526Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.K428Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.K421Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	526	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACTGGCTTAAAAAAGCTTTC	0.507000													49	70					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20763928	20763928	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20763928C>T	ENST00000258821.3	-	7	838	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	261					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTCTCGTTGCCGGGGCTCTGG	0.493000													46	69					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113803116	113803116	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113803116G>T	ENST00000260191.2	+	5	731	c.474G>T	c.(472-474)gaG>gaT	p.E158D	HTR3B_ENST00000537778.1_Missense_Mutation_p.E147D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	158					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCAGTTTAGAGACATATGCTT	0.438000													28	34					3.73988e-18	5.05028e-18	1	1	0
UBASH3A	53347	broad.mit.edu	37	21	43846924	43846924	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43846924T>C	ENST00000319294.6	+	8	1196	c.1165T>C	c.(1165-1167)Ttg>Ctg	p.L389L	UBASH3A_ENST00000398367.1_Silent_p.L351L|UBASH3A_ENST00000291535.6_Silent_p.L351L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	389						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTTACAGGCCTTGCAGGTAAT	0.448000													14	65					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167630748	167630748	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167630748G>T	ENST00000519204.1	+	17	3240	c.3122G>T	c.(3121-3123)aGg>aTg	p.R1041M	TENM2_ENST00000518659.1_Missense_Mutation_p.R1162M|TENM2_ENST00000545108.1_Missense_Mutation_p.R1162M|TENM2_ENST00000403607.2_Missense_Mutation_p.R986M|TENM2_ENST00000520394.1_Missense_Mutation_p.R930M					teneurin transmembrane protein 2																		TGGGAGAAAAGGACAGCCCTC	0.498000													33	63					2.61193e-14	3.39424e-14	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40636553	40636553	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:40636553T>G	ENST00000342449.3	-	17	1796	c.1718A>C	c.(1717-1719)aAt>aCt	p.N573T	BRWD1_ENST00000380800.3_Missense_Mutation_p.N573T|BRWD1_ENST00000333229.2_Missense_Mutation_p.N573T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TAAGACATAATTATTAGAATC	0.383000													5	23					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18823418	18823418	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:18823418C>T	ENST00000446231.2	-	61	11065	c.10653G>A	c.(10651-10653)caG>caA	p.Q3551Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.Q3552Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3551					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGACATCAGGCTGAGTCTTCT	0.483000													16	39					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137548851	137548851	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137548851T>C	ENST00000394886.2	-	1	181	c.151A>G	c.(151-153)Agt>Ggt	p.S51G	CDC23_ENST00000394884.3_Missense_Mutation_p.S51G|CDC23_ENST00000505120.1_Missense_Mutation_p.S51G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATTTGCTACTGTGTAGTAGG	0.537000													9	193					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23848713	23848713	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23848713G>A	ENST00000303531.7	+	2	343	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Missense_Mutation_p.G64E	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	64					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGGAAGCAGGGATTCCAGTGC	0.547000													59	113					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21157311	21157311	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21157311G>T	ENST00000261383.3	-	2	215	c.216C>A	c.(214-216)ctC>ctA	p.L72L	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.L72L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	72	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATACCTGATAGAGTCCAGACG	0.552000													10	55					1.58986e-06	1.78832e-06	1	1	0
MED12	9968	broad.mit.edu	37	X	70352363	70352363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70352363G>T	ENST00000333646.6	+	31	4589	c.4390G>T	c.(4390-4392)Gaa>Taa	p.E1464*	MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Nonsense_Mutation_p.E1464*|MED12_ENST00000374102.1_Nonsense_Mutation_p.E1464*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1464					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	13					0.00198382	0.00207034	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56377721	56377721	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:56377721C>T	ENST00000262494.7	+	8	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	308					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGCCCAGTACGAGAGCAAGA	0.577000													13	26					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115216318	115216318	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115216318G>T	ENST00000398805.3	+	9	1118	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92D|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224D|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TCAAAGAAGAGAAACTGCAGC	0.398000													20	39					2.94398e-08	3.45884e-08	1	1	0
LST3	0	broad.mit.edu	37	12	21207445	21207445	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21207445G>A	ENST00000381541.3	+	11	1622	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A	SLCO1B7_ENST00000554957.1_Silent_p.A519A|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A472A														p.A472A(1)									ATTACTCAGCGCACTTGGGTG	0.353000													13	36					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524480	51524480	+	Missense_Mutation	SNP	G	G	A	rs148617572		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524480G>A	ENST00000371117.3	-	61	10719	c.10444C>T	c.(10444-10446)Cgc>Tgc	p.R3482C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3482C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAAAAAGCGCAAAACTTGA	0.443000													30	40					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389581	52389581	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52389581T>G	ENST00000443374.1	+	0	274																											TGAGTTCATCTTGTTCTGAAT	0.463000													14	30					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847640	130847640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:130847640G>A	ENST00000245255.3	+	18	2418	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	716	Piwi.				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)		GGTGAACTACGAAGTGCCACA	0.443000													29	50					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074700	21074700	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:21074700C>T	ENST00000377122.4	-	28	3417	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NEBL_ENST00000417816.2_Silent_p.A263A|NEBL_ENST00000377159.4_Silent_p.A229A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	1007	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.A263A(1)|p.A1007A(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGTAATTCGCTGGGAGCA	0.413000													13	23					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084262	58084262	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58084262T>G	ENST00000196489.3	-	4	1232	c.1010A>C	c.(1009-1011)cAa>cCa	p.Q337P		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTTGGAACTTTGGCTAAAAGA	0.428000													28	60					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773289	107773289	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107773289A>C	ENST00000311955.3	-	2	1176	c.1122T>G	c.(1120-1122)caT>caG	p.H374Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	374	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TAATCACAACATGGTCATCTC	0.418000													50	84					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190936632	190936632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190936632G>T	ENST00000445281.1	+	3	266	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	OSTN_ENST00000339051.1_Nonsense_Mutation_p.E67*|OSTN-AS1_ENST00000430375.1_RNA			P61366	OSTN_HUMAN	osteocrin	67					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GCTTCTTGATGAATTGGTGTC	0.453000													13	30					3.03607e-14	3.94451e-14	1	1	0
MUC2	4583	broad.mit.edu	37	11	1088722	1088722	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1088722G>T	ENST00000441003.2	+	26	3534	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	MUC2_ENST00000359061.5_Missense_Mutation_p.K1169N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1169						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGCCCCAAGGACAGGCCCA	0.622000													5	7					0.000602214	0.000636035	1	1	0
TEX35	84066	broad.mit.edu	37	1	178485757	178485757	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178485757A>C	ENST00000367641.3	+	5	283	c.224A>C	c.(223-225)gAt>gCt	p.D75A	TEX35_ENST00000367643.3_Missense_Mutation_p.D75A|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.D75A|TEX35_ENST00000367639.1_Missense_Mutation_p.D83A					testis expressed 35																		TAGATAAAGGATCTAATGGAC	0.403000													3	23					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225761087	225761087	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225761087T>G	ENST00000409592.3	-	4	436	c.323A>C	c.(322-324)aAa>aCa	p.K108T	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000258390.7_Missense_Mutation_p.K114T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	114							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACTATAAAATTTACAAGCCTG	0.383000													7	13					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598587	68598587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68598587C>T	ENST00000570495.1	+	5	2189	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.R633*|ZFP90_ENST00000563169.2_Nonsense_Mutation_p.R633*			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	633					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R633R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATTCATACTCGAAATAAACT	0.378000													28	34					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542471	40542471	+	Translation_Start_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40542471A>C	ENST00000221355.6	-	0	552				ZNF780B_ENST00000434248.1_Missense_Mutation_p.L99V|ZNF780B_ENST00000598845.1_3'UTR			Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTTGGGTAAATTTATTTCA	0.313000													6	8					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139845316	139845316	+	Missense_Mutation	SNP	G	G	A	rs141938188		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139845316G>A	ENST00000303045.6	-	5	1257	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R271W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	271	TSP N-terminal.				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)			GATCCCATCCGTACATAGGAA	0.507000										HNSCC(7;0.00092)			20	44					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575681	12575681	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12575681C>T	ENST00000397732.3	-	4	1226	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R352Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATATGTCTTCGATAGCTTGG	0.368000													38	46					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80617462	80617462	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80617462G>A	ENST00000571995.1	-	4	467	c.336C>T	c.(334-336)atC>atT	p.I112I	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Silent_p.I112I	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATACCTCATCGATCTCCTTAA	0.562000													19	42					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80733009	80733009	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:80733009G>A	ENST00000458043.2	+	42	4994	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	OTOGL_ENST00000547103.1_Missense_Mutation_p.R1651Q	NM_173591.3	NP_775862.3			otogelin-like									p.R28L(1)|p.R1663L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGCTTCCGATTTAACTTG	0.353000													70	113					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70946299	70946299	+	Silent	SNP	C	C	T	rs149476310		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70946299C>T	ENST00000359655.4	+	3	510	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	150					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.F150F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATATTTGCTTCGGTGCAGGCA	0.363000													20	45					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46678377	46678377	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46678377C>T	ENST00000274793.7	-	8	878	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	PLA2G7_ENST00000541026.1_Missense_Mutation_p.E101K|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E183K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E228K	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	228					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGGAACATTCTTTTGCTCTT	0.323000													4	47					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928336	98928336	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98928336G>A	ENST00000477737.1	+	27	3780	c.3576G>A	c.(3574-3576)gcG>gcA	p.A1192A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1192										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAAGAAGCGGACACGCAGG	0.602000													7	17					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134031925	134031925	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134031925C>A	ENST00000220616.4	+	39	6901	c.6861C>A	c.(6859-6861)ttC>ttA	p.F2287L	TG_ENST00000519543.1_Missense_Mutation_p.F420L|TG_ENST00000377869.1_Missense_Mutation_p.F2230L|TG_ENST00000542445.1_Missense_Mutation_p.F657L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2287				F -> P (in Ref. 13; AA sequence).	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAATGTGTTCATCCCTCAGA	0.517000													20	34					4.63292e-17	6.19965e-17	1	1	0
CNTNAP3	79937	broad.mit.edu	37	9	39140537	39140537	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:39140537G>T	ENST00000297668.6	-	12	1928	c.1855C>A	c.(1855-1857)Ctt>Att	p.L619I	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619I|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619I|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526I|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	619	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTACACAAGAAATGGTCCC	0.433000													26	51					2.79863e-10	3.42475e-10	1	1	0
AE000661.37	0	broad.mit.edu	37	14	22951884	22951884	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:22951884A>C	ENST00000514473.2	-	0	64																											ATAACCTATAAACCTGTAGCT	0.388000													9	10					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942916	46942916	+	Silent	SNP	C	C	T	rs143042360		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46942916C>T	ENST00000429979.1	-	4	1174	c.570G>A	c.(568-570)tcG>tcA	p.S190S	KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000534925.1_Silent_p.S55S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000378781.3_Silent_p.S190S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343000													30	60					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57363940	57363940	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57363940C>A	ENST00000439986.4	-	2	170	c.131_splice	c.e2-1	p.E45_splice	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	45					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGCAGATTTCTCTATGAAAA	0.587000											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	51					3.83957e-06	4.27438e-06	1	1	0
CD99L2	83692	broad.mit.edu	37	X	149983348	149983348	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149983348A>G	ENST00000370377.3	-	4	381	c.264T>C	c.(262-264)ggT>ggC	p.G88G	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Silent_p.G88G|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	88					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTATACCCGGTTTCC	0.473000													49	97					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017907	200017907	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:200017907C>T	ENST00000367362.3	+	5	1317	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	NR5A2_ENST00000544748.1_Silent_p.V285V|NR5A2_ENST00000236914.3_Silent_p.V311V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	357	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCTCCATTGTCGAGTGGGCCA	0.458000													43	82					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46570519	46570519	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:46570519A>C	ENST00000269445.6	-	17	2373	c.1916T>G	c.(1915-1917)tTt>tGt	p.F639C	RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.F449C	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	639						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATAGGGGATAAAAAACTCCTC	0.443000													66	118					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133988254	133988254	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133988254A>G	ENST00000370784.4	+	7	982	c.576A>G	c.(574-576)caA>caG	p.Q192Q	FAM122C_ENST00000370785.3_3'UTR|FAM122C_ENST00000445123.1_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	192										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CTAGTAGACAAACTTTCAACT	0.418000													8	10					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604114	54604114	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54604114T>G	ENST00000474759.1	+	8	919	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F197V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F291V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F291V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	291	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGATGATGACTTCTTCAACAT	0.443000													10	101					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251258	35251258	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35251258A>C	ENST00000329285.7	-	4	821	c.448T>G	c.(448-450)Ttg>Gtg	p.L150V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTATAACTCAACTTCTCAGGG	0.453000													22	81					0	0	1	0	0
PRSS8	5652	broad.mit.edu	37	16	31143831	31143831	+	Silent	SNP	G	G	A	rs148214625	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31143831G>A	ENST00000317508.6	-	5	887	c.624C>T	c.(622-624)gaC>gaT	p.D208D	PRSS8_ENST00000568261.1_Silent_p.D154D	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	208	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						CAGGCTTGGCGTCGATGTTGT	0.607000													25	46					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337894	115337894	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115337894C>A	ENST00000351270.3	+	6	654	c.558C>A	c.(556-558)ttC>ttA	p.F186L	HABP2_ENST00000537906.1_Missense_Mutation_p.S175Y|HABP2_ENST00000541666.1_Missense_Mutation_p.F186L|HABP2_ENST00000542051.1_Missense_Mutation_p.F160L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	186	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGGGGAAATTCTGTGAAATAG	0.537000													33	34					3.62531e-18	4.89791e-18	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114372580	114372580	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114372580C>T	ENST00000359785.5	-	17	2260	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	PTPN22_ENST00000538253.1_Missense_Mutation_p.D465N|PTPN22_ENST00000525799.1_Missense_Mutation_p.D582N|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.D654N|PTPN22_ENST00000420377.2_Missense_Mutation_p.D709N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	709					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATCTTCATCGGCAAGAAAG	0.353000													9	20					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768608	121768608	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121768608G>T	ENST00000282561.3	+	2	772	c.615G>T	c.(613-615)gaG>gaT	p.E205D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	205					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCCCCACGGAGAAAACCATCT	0.473000													32	65					2.81731e-10	3.44686e-10	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563587	55563587	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563587C>T	ENST00000335605.1	+	1	556	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTATACTGCTCTCATCTCTGT	0.468000													60	92					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78202083	78202083	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78202083G>A	ENST00000535157.1	+	26	1674	c.1502_splice	c.e26-1	p.D502_splice	SCEL_ENST00000377246.3_Splice_Site_p.D524_splice|SCEL_ENST00000349847.3_Splice_Site_p.D544_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	544	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTTCCTTAGAGACCAGAACCT	0.249000													14	15					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427749	134427749	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134427749C>A	ENST00000370766.3	-	3	3027	c.318G>T	c.(316-318)caG>caT	p.Q106H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q106H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCACCCAGTTCTGGGTCTCCT	0.502000													36	82					3.6622e-26	5.17531e-26	1	1	0
TCN1	6947	broad.mit.edu	37	11	59620703	59620703	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59620703G>A	ENST00000257264.3	-	8	1317	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	405					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCCACTCAGAAGTTCCCAG	0.522000													74	133					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337190G>T	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443000													22	71					2.37509e-13	3.04217e-13	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10970992	10970992	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10970992C>A	ENST00000254488.2	+	10	1404	c.1338C>A	c.(1336-1338)atC>atA	p.I446I		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	446					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGTCTGTTATCTCCTATTTTC	0.567000													42	82					8.69298e-16	1.14932e-15	1	1	0
MYH11	4629	broad.mit.edu	37	16	15833968	15833968	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15833968C>A	ENST00000338282.6	-	23	3043	c.2937G>T	c.(2935-2937)aaG>aaT	p.K979N	MYH11_ENST00000300036.5_Missense_Mutation_p.K979N|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N|MYH11_ENST00000576790.1_Missense_Mutation_p.K979N|MYH11_ENST00000452625.2_Missense_Mutation_p.K986N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	979					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	p.K979N(1)		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						GTTTCTTGATCTTGGCCTCAG	0.507000			T	CBFB	AML								37	75					9.85521e-28	1.39762e-27	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34045776G>A	ENST00000382499.2	-	14	1716	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388000													14	26					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55195809	55195809	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55195809C>T	ENST00000396834.1	+	10	1357	c.861C>T	c.(859-861)agC>agT	p.S287S	IL31RA_ENST00000396836.2_Silent_p.S306S|IL31RA_ENST00000447346.2_Silent_p.S306S|IL31RA_ENST00000490985.1_Silent_p.S164S|IL31RA_ENST00000354961.4_Silent_p.S287S|IL31RA_ENST00000359040.5_Silent_p.S306S|IL31RA_ENST00000297015.3_Silent_p.S164S	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	274	Fibronectin type-III 3.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCCAGAAAGCAACACTAACC	0.413000													47	70					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123599	140123599	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140123599G>A	ENST00000458420.3	+	4	818	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	210	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTTGCCATCGACAGAAATGG	0.527000										HNSCC(16;0.037)			17	73					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61081881	61081881	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61081881C>A	ENST00000301764.7	-	13	1885	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	496	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CACTGATGTTCTTGGCCTGAG	0.532000								Nucleotide excision repair (NER)					13	176					5.50884e-06	6.10489e-06	1	1	0
TAOK3	51347	broad.mit.edu	37	12	118675943	118675943	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118675943G>A	ENST00000392533.3	-	7	862	c.372C>T	c.(370-372)atC>atT	p.I124I	TAOK3_ENST00000419821.2_Silent_p.I124I	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	124	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGCAGCGATCTCCACTT	0.363000													23	55					0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36933975	36933975	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36933975T>G	ENST00000269554.3	-	7	1252	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	258	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGAAGTTCTTTTTACTCTCC	0.473000													35	62					0	0	1	0	0
TIFA	92610	broad.mit.edu	37	4	113199456	113199456	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113199456C>A	ENST00000361717.2	-	2	398	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TIFA_ENST00000500655.2_Missense_Mutation_p.E39D	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	39							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		AAGGGAGTTTCTCTCTGTTAA	0.428000													38	62					4.00102e-26	5.65269e-26	1	1	0
DHX35	60625	broad.mit.edu	37	20	37621001	37621001	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37621001T>C	ENST00000252011.3	+	7	548	c.515T>C	c.(514-516)gTc>gCc	p.V172A	DHX35_ENST00000373323.4_Missense_Mutation_p.V141A|DHX35_ENST00000373325.2_Missense_Mutation_p.V172A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	172	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATTCTTAGTGTCATCATGCTG	0.433000													19	35					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147830815	147830815	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147830815C>T	ENST00000354217.2	-	7	1260	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR4_ENST00000521530.1_Missense_Mutation_p.G366E|HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTGATGATGTCCCCTGTGCAG	0.478000													54	89					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91478603	91478603	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91478603T>C	ENST00000416354.1	+	12	1480	c.1408T>C	c.(1408-1410)Ttg>Ctg	p.L470L	KIF20B_ENST00000394289.2_Silent_p.L470L|KIF20B_ENST00000371728.3_Silent_p.L470L|KIF20B_ENST00000260753.4_Silent_p.L470L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	470					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTCAATGTATTGAAGTTCTC	0.254000													14	20					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31212746	31212746	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31212746T>C	ENST00000294507.3	-	4	371	c.297A>G	c.(295-297)caA>caG	p.Q99Q		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	99					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCCATGATTTGCAGGGACA	0.612000													19	36					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98609882	98609882	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98609882C>T	ENST00000359863.4	+	72	11693	c.11484C>T	c.(11482-11484)ttC>ttT	p.F3828F	TRRAP_ENST00000446306.3_Silent_p.F3817F|TRRAP_ENST00000355540.3_Silent_p.F3799F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3828	FATC.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.F3799F(1)|p.F3828F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCCCAGTTCGAAGGCGGGG	0.642000													14	14					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42203567	42203567	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42203567C>T	ENST00000373100.1	+	11	1076	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	SGK2_ENST00000373092.3_Missense_Mutation_p.L206F|SGK2_ENST00000373077.1_Missense_Mutation_p.L205F|SGK2_ENST00000423407.3_Missense_Mutation_p.L206F|SGK2_ENST00000426287.1_Missense_Mutation_p.L232F|SGK2_ENST00000341458.4_Missense_Mutation_p.L266F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	266	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTGAAGTGCTTCGGAAAGA	0.502000													22	23					0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57910667	57910667	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57910667G>A	ENST00000551116.1	-	4	771	c.504C>T	c.(502-504)atC>atT	p.I168I	DDIT3_ENST00000552740.1_Silent_p.I168I|DDIT3_ENST00000346473.3_Silent_p.I145I|DDIT3_ENST00000547303.1_Silent_p.I145I	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	145					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCAGGCGCTCGATTTCCTGCT	0.542000			T	FUS	liposarcoma								40	96					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATTCATAAGTATGGTAAT	0.269000													6	11					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37107798	37107798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37107798C>A	ENST00000421307.1	-	23	1905	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Nonsense_Mutation_p.E495*|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	495					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAATGTATTCTTTCTGTTTC	0.468000													28	43					3.90053e-15	5.12206e-15	1	1	0
STRN	6801	broad.mit.edu	37	2	37121137	37121137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37121137G>A	ENST00000263918.4	-	7	843	c.835C>T	c.(835-837)Cga>Tga	p.R279*	STRN_ENST00000379213.2_Nonsense_Mutation_p.R267*	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	279					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTGTATCTCGATCTTCACCG	0.383000													8	61					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346160	116346160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116346160C>T	ENST00000374140.2	+	21	2677	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.S144F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	823					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCCAGGTCTCCCTGCCAGCC	0.637000													64	129					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100352109	100352109	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100352109C>T	ENST00000273352.3	+	4	603	c.334_splice	c.e4-1	p.A112_splice		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	112					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTATTAAAGCGGGCAATCCA	0.269000													10	15					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52553522	52553522	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52553522G>T	ENST00000321725.6	+	50	5253	c.5175_splice	c.e50-1	p.R1726_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1726	FAS1 6.				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)		TTTCCTCAGAGAAATGTCACC	0.602000													8	88					0.000274275	0.000292037	1	1	0
MRE11A	4361	broad.mit.edu	37	11	94178996	94178996	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94178996C>A	ENST00000323929.3	-	16	2069	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	MRE11A_ENST00000393241.4_Missense_Mutation_p.R615I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Missense_Mutation_p.R619I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	616					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGACATATTTCTAGATGCTGA	0.383000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				30	52					1.74807e-11	2.17561e-11	1	1	0
BHMT	635	broad.mit.edu	37	5	78417160	78417160	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78417160C>T	ENST00000274353.5	+	5	704	c.597C>T	c.(595-597)ggC>ggT	p.G199G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	199	Hcy-binding.		G -> S (in dbSNP:rs59866108).		protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCCCCCCGGCGAGTGTGCAG	0.488000													14	76					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66505962	66505962	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66505962A>C	ENST00000360242.5	+	3	743	c.626A>C	c.(625-627)gAt>gCt	p.D209A	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209A|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	209										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTGGTTATTGATTCTCTAAAA	0.343000													9	26					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108931363	108931363	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108931363C>T	ENST00000228284.3	-	9	1444	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	SART3_ENST00000431469.2_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	404					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AAAGCTTTCTCGAAGGTTACT	0.403000									Porokeratosis				16	22					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135271107	135271107	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:135271107C>T	ENST00000265605.2	-	1	153	c.85G>A	c.(85-87)Gac>Aac	p.D29N	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D29N|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D29N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	29					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTGATGGGTCGTAAGAATCT	0.373000													18	40					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810148	38810148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810148G>T	ENST00000359357.3	+	32	4074	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1491*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1274*					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						TCCCAGAAAAGAACTCAACTT	0.323000													34	16					3.03874e-20	4.1594e-20	1	1	0
NOS3	4846	broad.mit.edu	37	7	150698909	150698909	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150698909C>T	ENST00000297494.3	+	13	1860	c.1502_splice	c.e13-1	p.N501_splice	NOS3_ENST00000484524.1_Splice_Site_p.N501_splice|NOS3_ENST00000461406.1_Splice_Site_p.N295_splice|NOS3_ENST00000467517.1_Splice_Site_p.N501_splice	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	501	Calmodulin-binding (Potential).				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCTCCCGCAGCGCCGTGAAGA	0.642000													19	22					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639180	9639180	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9639180G>A	ENST00000593003.1	-	6	1904	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M	ZNF426_ENST00000535489.1_Missense_Mutation_p.T514M|ZNF426_ENST00000253115.2_Missense_Mutation_p.T514M			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTGGAACACGTGAAGGCTTT	0.428000													20	34					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65959785	65959785	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65959785A>G	ENST00000443035.3	-	29	5454		c.e29+1		DENND4A_ENST00000431932.2_Splice_Site	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTAGTCTCATACCTTTGAATA	0.333000													16	27					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74363124	74363124	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74363124A>G	ENST00000555044.1	+	4	469	c.275A>G	c.(274-276)cAg>cGg	p.Q92R	ZNF410_ENST00000540593.1_Intron|ZNF410_ENST00000324593.6_Missense_Mutation_p.Q92R|ZNF410_ENST00000442160.3_Missense_Mutation_p.Q109R|ZNF410_ENST00000556797.1_Missense_Mutation_p.Q39R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.Q39R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ACGAGAGCTCAGACTGTACAG	0.463000													33	58					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104373823	104373823	+	Translation_Start_Site	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104373823T>A	ENST00000542036.1	+	0	91				TDG_ENST00000266775.9_Silent_p.I123I|TDG_ENST00000544861.1_De_novo_Start_InFrame|TDG_ENST00000392872.3_Silent_p.I127I			Q13569	TDG_HUMAN	thymine-DNA glycosylase						depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCCCCGATATTTTGACCTTCA	0.358000								Base excision repair (BER), DNA glycosylases					19	41					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75506691	75506691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75506691C>T	ENST00000355774.2	-	5	3708	c.3493G>A	c.(3493-3495)Gct>Act	p.A1165T	MLH3_ENST00000238662.7_Missense_Mutation_p.A1165T|MLH3_ENST00000544985.1_Intron|MLH3_ENST00000380968.2_Missense_Mutation_p.A111T|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.A1165T|MLH3_ENST00000556257.1_Intron	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1165					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AAGCTCTCAGCCTGGCCACTG	0.338000								Mismatch excision repair (MMR)					20	24					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362273	87362273	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87362273G>T	ENST00000327946.7	-	16	2872	c.2787C>A	c.(2785-2787)acC>acA	p.T929T	GRID1_ENST00000536331.1_Silent_p.T500T|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	929						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGGCAGAAAGGTGCTGACCG	0.662000										Multiple Myeloma(13;0.14)			7	56					0.00198382	0.00207034	1	1	0
PCDHA9	0	broad.mit.edu	37	5	140229595	140229595	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229595G>A	ENST00000378122.3	+	1	2239	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.S505S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	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)			GCTCGCTGTCGAGCTACGTGT	0.677000													55	122					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118307936	118307936	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118307936T>G	ENST00000369221.2	+	4	294	c.266T>G	c.(265-267)tTt>tGt	p.F89C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	89					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AAAACTCGCTTTATTATTCAT	0.403000													12	66					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	922930	922930	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:922930G>A	ENST00000537687.1	+	2	1525	c.882G>A	c.(880-882)aaG>aaA	p.K294K	WNK1_ENST00000530271.2_Silent_p.K294K|WNK1_ENST00000447667.2_Silent_p.K294K|WNK1_ENST00000315939.6_Silent_p.K294K|WNK1_ENST00000535572.1_Silent_p.K294K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	294	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAAAGGAAAGAAGTGCATTG	0.358000													4	34					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124763776	124763776	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124763776G>T	ENST00000306534.3	-	9	1969	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	495					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.A495D(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGCACCCTAGCTCGGCGCCG	0.632000													10	15					3.86212e-05	4.21111e-05	1	1	0
SLC11A2	4891	broad.mit.edu	37	12	51399200	51399200	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51399200C>T	ENST00000394904.3	-	4	339	c.290G>A	c.(289-291)cGt>cAt	p.R97H	SLC11A2_ENST00000262051.7_Missense_Mutation_p.R68H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	68					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.R68H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCAGAGTTTACGAAAGCTAAA	0.413000													9	30					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10206514	10206514	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10206514G>A	ENST00000418404.3	-	38	5829	c.5667_splice	c.e38+1	p.A1889_splice	MYH13_ENST00000252172.4_Splice_Site_p.A1889_splice|MYH13_ENST00000570743.1_Splice_Site_p.A1889_splice			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1889					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGTGCTTACCGCCTCCTCAGC	0.597000													62	119					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640478	32640478	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32640478A>G	ENST00000421745.2	+	10	2253	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	707					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGAGAAGTGGAACTCTGTGTT	0.473000													16	21					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740730	16740730	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:16740730C>T	ENST00000381323.3	-	10	1055	c.835G>A	c.(835-837)Gat>Aat	p.D279N	FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N|FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	279						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTTACATCGATCTTGGAT	0.483000													39	45					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10796399	10796399	+	Silent	SNP	C	C	T	rs145014649	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10796399C>T	ENST00000313243.2	-	9	1357	c.975G>A	c.(973-975)ccG>ccA	p.P325P	MAK_ENST00000536370.1_3'UTR|MAK_ENST00000474039.1_Silent_p.P325P|MAK_ENST00000354489.2_Silent_p.P325P|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Silent_p.P325P|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	325	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CGATTATATCCGGCAGAGGCT	0.483000													28	62					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10521689	10521689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10521689C>T	ENST00000444303.2	+	10	1609	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.S547S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	538					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACATGTTTTCCGACAAGAGCC	0.567000													29	70					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230697	18230697	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18230697G>T	ENST00000380033.4	-	4	612	c.480C>A	c.(478-480)ttC>ttA	p.F160L	BEND2_ENST00000380030.3_Missense_Mutation_p.F160L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	160								p.F160F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTGGAGTATAGAATCTTCCTC	0.328000													4	49					0.00024832	0.000265255	1	1	0
OR2T1	26696	broad.mit.edu	37	1	248569685	248569685	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248569685G>T	ENST00000366474.1	+	1	390	c.390G>T	c.(388-390)aaG>aaT	p.K130N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K130N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTGTGCCTAAGATGCTGGTTA	0.453000													45	100					2.35958e-20	3.23214e-20	1	1	0
NR6A1	2649	broad.mit.edu	37	9	127302467	127302467	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:127302467C>A	ENST00000487099.2	-	5	599		c.e5-1		NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CTTCCGATATCTTTGACAAGG	0.453000													34	66					1.36161e-19	1.85609e-19	1	1	0
GBF1	8729	broad.mit.edu	37	10	104130495	104130495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104130495C>T	ENST00000369983.3	+	29	3795	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1179					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCAGACTGTTCGAGACCATCT	0.567000													30	69					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416330	178416330	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178416330C>A	ENST00000231188.5	-	5	1267	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	GRM6_ENST00000517717.1_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	363					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)		AGTTAAAATTCTCTTCCCAGA	0.547000													25	47					1.10923e-09	1.34134e-09	1	1	0
JPH4	84502	broad.mit.edu	37	14	24040637	24040637	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24040637C>T	ENST00000397118.3	-	6	2205	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	JPH4_ENST00000544177.1_Missense_Mutation_p.D100N|JPH4_ENST00000356300.4_Missense_Mutation_p.D435N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	435					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTCCGTGTCGGAACCTTCT	0.617000													19	42					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027431	86027431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86027431C>A	ENST00000414626.2	+	4	1470	c.581C>A	c.(580-582)tCa>tAa	p.S194*	LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.S214*			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	214	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAATAAATTCATCACAGCTG	0.353000													16	35					0.000566183	0.00059967	1	1	0
GYS2	2998	broad.mit.edu	37	12	21733410	21733410	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21733410C>T	ENST00000261195.2	-	2	423	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	57					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCCCATTCATCTGCTGTTGTT	0.363000													25	55					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38304324C>T	ENST00000373036.4	-	4	892	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.R251Q(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438000													19	46					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162536047	162536047	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:162536047G>T	ENST00000271469.3	+	2	491	c.189G>T	c.(187-189)aaG>aaT	p.K63N	UAP1_ENST00000367925.1_Missense_Mutation_p.K63N|UAP1_ENST00000367924.1_Missense_Mutation_p.K63N|UAP1_ENST00000367926.4_Missense_Mutation_p.K63N			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	63					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTCACCAAAAGAATGTGGATG	0.478000													14	15					1.41608e-15	1.86784e-15	1	1	0
DDTL	100037417	broad.mit.edu	37	22	24313580	24313580	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24313580C>A	ENST00000215770.5	+	3	404	c.390C>A	c.(388-390)ttC>ttA	p.F130L	DDT_ENST00000398344.4_3'UTR|DDT_ENST00000404092.1_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	130						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						AAGCTCTCTTCATTTATTTCA	0.473000													24	42					0.00278032	0.00290051	1	1	0
ATP7B	540	broad.mit.edu	37	13	52548571	52548571	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52548571C>A	ENST00000242839.4	-	2	941	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.R262I|ATP7B_ENST00000400366.3_Missense_Mutation_p.R262I|ATP7B_ENST00000418097.2_Missense_Mutation_p.R262I|ATP7B_ENST00000542656.1_Missense_Mutation_p.R230I|ATP7B_ENST00000344297.5_Missense_Mutation_p.R262I|ATP7B_ENST00000448424.2_Missense_Mutation_p.R262I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	262	HMA 3.				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)		TCCATCTATTCTCAGTTGGAG	0.418000									Wilson disease				24	66					2.52088e-20	3.4514e-20	1	1	0
ACRC	93953	broad.mit.edu	37	X	70832208	70832208	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832208G>A	ENST00000373695.1	+	11	2291	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R585Q			Q96QF7	ACRC_HUMAN	acidic repeat containing	585						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTTCAAGACCGAATCCGGGAT	0.378000													7	11					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145624	21145624	+	Silent	SNP	C	C	T	rs138812210		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21145624C>T	ENST00000261383.3	-	7	1037	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	DNAH3_ENST00000415178.1_Silent_p.T346T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	346	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGTTCACCGTGTGCAGAT	0.527000													45	86					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500065	31500065	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31500065G>A	ENST00000330498.3	+	10	1271	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	418					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCCACGCGCCGGCGACCGCGA	0.711000													12	26					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544756	23544756	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23544756C>A	ENST00000300619.7	-	4	1230	c.1025G>T	c.(1024-1026)aGa>aTa	p.R342I	ZNF91_ENST00000397082.2_Missense_Mutation_p.R310I|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	342						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R342I(2)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.373000													19	49					1.28384e-07	1.48174e-07	1	1	0
ARAF	369	broad.mit.edu	37	X	47424688	47424688	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47424688A>G	ENST00000377045.4	+	6	690	c.496A>G	c.(496-498)Aga>Gga	p.R166G	ARAF_ENST00000377039.2_Missense_Mutation_p.R166G|ARAF_ENST00000290277.6_Missense_Mutation_p.R166G	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	166					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGGAGGCTCCAGACAGCATGA	0.582000													9	67					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773496	229773496	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229773496G>A	ENST00000258243.2	+	4	3272	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1046						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						CAAACAATTAGAAAATCAGAA	0.483000													22	38					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96798990	96798990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96798990C>A	ENST00000359933.4	-	9	2103	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	404										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATACTTCTTCTTCTAGAGAG	0.378000													18	19					5.03518e-11	6.23768e-11	1	1	0
FMR1	2332	broad.mit.edu	37	X	147030228	147030228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147030228G>T	ENST00000370471.3	+	16	1721	c.1492G>T	c.(1492-1494)Gga>Tga	p.G498*	FMR1_ENST00000370475.4_Missense_Mutation_p.R588M|FMR1_ENST00000370477.1_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R567M|FMR1_ENST00000440235.2_Intron|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000439526.2_Intron	NM_001185075.1|NM_001185081.1	NP_001172004.1|NP_001172010.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	608	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAAAGGAGTGTCCAC	0.403000									Fragile X syndrome				8	84					0.000157383	0.000169016	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113102483	113102483	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102483C>A	ENST00000316851.7	+	9	1176	c.1176C>A	c.(1174-1176)ggC>ggA	p.G392G	NCAM1_ENST00000533760.1_Silent_p.G274G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G401G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	402	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACACCATCGGCCAGGACTCCC	0.577000													11	109					1.08611e-07	1.25818e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179464378	179464378	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179464378A>G	ENST00000589042.1	-	289	56474	c.56250T>C	c.(56248-56250)gtT>gtC	p.V18750V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.V9877V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V9810V|TTN_ENST00000342992.6_Silent_p.V16182V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.V9685V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.V17109V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17109	Fibronectin type-III 36.						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)			ACTGCGGAATAACTAAAGTGC	0.438000													50	89					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182339888	182339888	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339888T>G	ENST00000397033.2	+	4	859	c.429T>G	c.(427-429)acT>acG	p.T143T	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.T143T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	143					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTATTCAGACTTGTGGGCATA	0.408000													9	48					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148756968	148756968	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148756968C>A	ENST00000310053.5	-	23	2857	c.2664G>T	c.(2662-2664)aaG>aaT	p.K888N	HLTF_ENST00000494055.1_Missense_Mutation_p.K888N|HLTF_ENST00000392912.2_Missense_Mutation_p.K888N|HLTF_ENST00000465259.1_Missense_Mutation_p.K887N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	888	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAACTCTTTTCTTTTGGGCCA	0.373000													7	17					0.0381472	0.0387537	1	1	0
DRC1	92749	broad.mit.edu	37	2	26667759	26667759	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26667759T>C	ENST00000288710.2	+	10	1413	c.1339T>C	c.(1339-1341)Tct>Cct	p.S447P	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		tgggcctatttctcAGCAGCC	0.527000													6	42					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115529640	115529640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115529640G>T	ENST00000361048.1	+	7	860	c.533G>T	c.(532-534)aGa>aTa	p.R178I	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.R172I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R90I	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AGCTCACCAAGAAATGGTCTC	0.488000													15	103					3.52763e-06	3.92945e-06	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55451265	55451265	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55451265C>T	ENST00000446217.1	-	6	1408	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D308N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D308N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	308	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGGAGGTCCCTCAGTGCC	0.617000													17	27					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34854398	34854398	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34854398T>C	ENST00000431794.3	-	25	2991	c.2469A>G	c.(2467-2469)agA>agG	p.R823R	ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.R623R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	823						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCAGGCCATTCTGATCTTAA	0.428000													11	16					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759805	152759805	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152759805C>T	ENST00000368770.3	+	2	83	c.30C>T	c.(28-30)tgC>tgT	p.C10C	LCE1E_ENST00000368771.1_Silent_p.C10C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	10	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCAGTGCCAGCCCCctc	0.597000													6	229					0	0	1	0	0
FAXDC2	10826	broad.mit.edu	37	5	154203091	154203091	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154203091G>T	ENST00000326080.5	-	6	851	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	FAXDC2_ENST00000517938.1_Missense_Mutation_p.S120Y	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		CATGGGGAAAGATATCATGCA	0.557000													28	64					1.12875e-08	1.33677e-08	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519436	113519436	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519436C>T	ENST00000284601.3	-	4	1779	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	571					glycogen metabolic process	integral to membrane		p.A571T(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGGGATTGCGGTATGTTCG	0.473000													37	50					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87454256	87454256	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:87454256A>G	ENST00000268616.4	-	5	713	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	166					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCACATAAAATGCGTCCGGA	0.562000													5	21					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15267934	15267934	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15267934C>A	ENST00000355694.2	-	2	289	c.55G>T	c.(55-57)Gat>Tat	p.D19Y	TTC39B_ENST00000297615.5_Missense_Mutation_p.D85Y|TTC39B_ENST00000512701.1_Missense_Mutation_p.D85Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.D85Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.D19Y	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	19							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCCAAGGCATCTTCGAAAACG	0.299000													15	32					3.27435e-08	3.83577e-08	1	1	0
FASLG	356	broad.mit.edu	37	1	172633520	172633520	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172633520C>T	ENST00000367721.2	+	3	625	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	147					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGAAAGTGGCCCATTTAACAG	0.428000													4	26					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45258949	45258949	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45258949C>T	ENST00000066544.3	-	2	175	c.82G>A	c.(82-84)Gca>Aca	p.A28T	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.A28T|CDC27_ENST00000527547.1_Missense_Mutation_p.A28T|CDC27_ENST00000446365.2_Missense_Mutation_p.R16H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.A28T(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGCGTTCTGCGAGGAAAACC	0.348000													5	12					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145541355	145541355	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:145541355C>A	ENST00000332324.4	-	11	1188	c.915G>T	c.(913-915)caG>caT	p.Q305H		NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	305					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCATGGAGTTCTGGATGGTGG	0.602000													37	68					2.32173e-10	2.84673e-10	1	1	0
MYH10	4628	broad.mit.edu	37	17	8508286	8508286	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:8508286G>T	ENST00000360416.3	-	3	498	c.360C>A	c.(358-360)ctC>ctA	p.L120L	MYH10_ENST00000396239.1_Silent_p.L120L|MYH10_ENST00000379980.4_Silent_p.L120L|MYH10_ENST00000269243.4_Silent_p.L120L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	120	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTACACAGAAGAGTCCAGAAT	0.343000													10	23					0.000442599	0.00046913	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156928929	156928929	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156928929G>A	ENST00000368194.3	-	16	2327	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R390C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	390	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCGCAGGCGCGAGTCTGTA	0.572000													11	13					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90690889	90690889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90690889G>T	ENST00000312600.3	+	2	527	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	105						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCTGGAGTGGGAAATAT	0.413000													7	75					0.0293803	0.0299069	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75896636	75896636	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75896636G>T	ENST00000274364.6	+	11	1368		c.e11-1		IQGAP2_ENST00000379730.3_Splice_Site	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTTCCAACAGAACTACTTGG	0.433000													12	45					3.07112e-06	3.42433e-06	1	1	0
PEX19	5824	broad.mit.edu	37	1	160252876	160252876	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160252876C>A	ENST00000368072.5	-	3	225	c.204G>T	c.(202-204)gaG>gaT	p.E68D	DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAAAACTTCTCTTGGGAAG	0.542000													25	45					1.37878e-21	1.90629e-21	1	1	0
GPC4	2239	broad.mit.edu	37	X	132437257	132437257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132437257G>A	ENST00000370828.3	-	8	1929	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GPC4_ENST00000535467.1_Nonsense_Mutation_p.R399*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	469					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCATCACTCGAAGAGCCATG	0.453000													35	80					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599082	136599082	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136599082C>A	ENST00000531224.1	-	4	1189	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D311Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D311Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	313					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTAGACTCATCTCTTGGAGCA	0.428000													10	66					2.17888e-05	2.39107e-05	1	1	0
VPS72	6944	broad.mit.edu	37	1	151158378	151158378	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151158378C>T	ENST00000354473.4	-	2	202	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	56	Asp/Glu-rich (acidic).				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGTCCACTTCGTCCTCTGTG	0.517000													17	57					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130698227	130698227	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130698227A>C	ENST00000510168.1	+	19	2255	c.1705A>C	c.(1705-1707)Att>Ctt	p.I569L	ATP2C1_ENST00000428331.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I569L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I553L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I564L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I603L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I514L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I569L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I569L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	569					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATAAAAATGATTACTGGAGA	0.383000									Hailey-Hailey disease				16	30					0	0	1	0	0
KLHL4	0	broad.mit.edu	37	X	86924355	86924355	+	Missense_Mutation	SNP	C	C	A	rs12013438		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:86924355C>A	ENST00000373114.4	+	11	2204	c.2124C>A	c.(2122-2124)ttC>ttA	p.F708L	KLHL4_ENST00000373119.4_3'UTR	NM_057162.2	NP_476503.1	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	0						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACAAAACTTCTATACCACAC	0.438000													21	32					7.45023e-12	9.31775e-12	1	1	0
TAF3	83860	broad.mit.edu	37	10	8007253	8007253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007253G>T	ENST00000344293.5	+	3	1986	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	594	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TAAAATCAAAGAATTTGAAGA	0.373000													31	41					6.00712e-18	8.10414e-18	1	1	0
KALRN	8997	broad.mit.edu	37	3	124141773	124141773	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124141773A>C	ENST00000360013.3	+	15	2778	c.2651A>C	c.(2650-2652)aAg>aCg	p.K884T	KALRN_ENST00000240874.3_Missense_Mutation_p.K884T|KALRN_ENST00000460856.1_Missense_Mutation_p.K884T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	884					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						CAGACTCATAAGCGGCTAGAG	0.502000													7	78					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406167	105406167	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105406167T>C	ENST00000333244.5	-	7	15740	c.15621A>G	c.(15619-15621)agA>agG	p.R5207R	AHNAK2_ENST00000557457.1_Silent_p.R205R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5207						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)			CAGCCCCGCCTCTGTCCCTGA	0.552000													140	150					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639584	44639584	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44639584G>A	ENST00000372330.3	+	4	563	c.544G>A	c.(544-546)Gac>Aac	p.D182N		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	182					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GTATCCCTTCGACGGGAAGGA	0.622000													33	55					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060320	111060320	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111060320G>T	ENST00000369771.2	-	1	1477	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	364						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTTTGCCCGAGGATCTGCAGC	0.557000													53	91					2.0833e-19	2.83573e-19	1	1	0
CD80	941	broad.mit.edu	37	3	119256042	119256042	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119256042G>T	ENST00000264246.3	-	4	1004	c.642C>A	c.(640-642)ttC>ttA	p.F214L	CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.F214L|CD80_ENST00000478182.1_Missense_Mutation_p.F214L	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	214	Ig-like C2-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TGAGACACATGAAGCTGTGGT	0.388000													31	66					2.61193e-14	3.39424e-14	1	1	0
FAM92B	339145	broad.mit.edu	37	16	85135934	85135934	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85135934C>A	ENST00000539556.1	-	7	693		c.e7-1			NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AAAAAAATTTCTGTGGGGAGA	0.517000													12	35					6.40141e-05	6.95424e-05	1	1	0
SDK2	54549	broad.mit.edu	37	17	71334925	71334925	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71334925G>A	ENST00000392650.3	-	45	6320	c.6320C>T	c.(6319-6321)tCg>tTg	p.S2107L	SDK2_ENST00000388726.3_Missense_Mutation_p.S2088L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2107					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						TGGCTCACCCGAGTCGCTCTC	0.627000													15	23					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638272	12638272	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12638272C>A	ENST00000339282.7	-	4	846	c.650G>T	c.(649-651)aGa>aTa	p.R217I	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564									p.R217I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTGTGAGTTCTTTCATGTAT	0.403000													47	84					1.8453e-21	2.54941e-21	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46799031	46799031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46799031T>G	ENST00000529230.1	-	23	2866	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	CKAP5_ENST00000354558.3_Missense_Mutation_p.K940N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K940N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K940N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	940					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCCTAAATTTTTTACATGTT	0.428000													18	27					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155490690	155490690	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155490690A>C	ENST00000302068.4	+	7	1046	c.983A>C	c.(982-984)aAa>aCa	p.K328T	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.K109T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	328	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGAAATGATAAAATTAGCCAG	0.358000													9	67					0	0	1	0	0
ZIM3	0	broad.mit.edu	37	19	57647266	57647266	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57647266C>T	ENST00000269834.1	-	5	824	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCATTATCATCGTGAGAATTA	0.353000													41	87					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11573031	11573031	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11573031C>A	ENST00000262442.3	+	17	3341	c.3273C>A	c.(3271-3273)ccC>ccA	p.P1091P	DNAH9_ENST00000454412.2_Silent_p.P1091P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1091	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)		ATATTCGACCCTTTAAGGCAT	0.443000													18	119					1.45105e-14	1.8931e-14	1	1	0
NOL11	25926	broad.mit.edu	37	17	65722653	65722653	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:65722653T>A	ENST00000253247.4	+	7	857	c.742T>A	c.(742-744)Tca>Aca	p.S248T	NOL11_ENST00000535137.1_Missense_Mutation_p.S66T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	248						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTAGTTAAATCACTGCTGCT	0.458000													16	37					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986041	61986041	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61986041G>T	ENST00000409186.1	-	5	4296	c.2191C>A	c.(2191-2193)Ctc>Atc	p.L731I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L731I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	704	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTAGAAGGAGAATTGTGATT	0.463000													50	84					4.01344e-20	5.48555e-20	1	1	0
KIF5C	3800	broad.mit.edu	37	2	149793854	149793854	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149793854C>A	ENST00000435030.1	+	4	716	c.348C>A	c.(346-348)atC>atA	p.I116I	KIF5C_ENST00000414838.2_Silent_p.I21I			O60282	KIF5C_HUMAN	kinesin family member 5C	116	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.I116I(1)|p.I19I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCCATGATATCTTTGACCATA	0.493000													3	6					0.115264	0.116507	1	1	0
RRP1B	23076	broad.mit.edu	37	21	45107839	45107839	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45107839A>G	ENST00000340648.4	+	13	1701	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	528					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAAACTTGGAGTTGTGCCCG	0.632000													42	49					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96235878	96235878	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96235878G>T	ENST00000437043.3	+	10	2268	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	ERAP2_ENST00000379904.4_Missense_Mutation_p.K474N|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	519					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CGGATCCCAAGATGACAAGTA	0.403000													27	62					2.36697e-06	2.64971e-06	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143081489	143081489	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:143081489C>T	ENST00000367603.2	-	9	6678	c.5936G>A	c.(5935-5937)cGa>cAa	p.R1979Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1979Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1979Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1979L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGAGTAACTCGAATACTTGG	0.473000													42	90					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19470546	19470546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19470546G>A	ENST00000375267.2	-	55	8110	c.8107C>T	c.(8107-8109)Cga>Tga	p.R2703*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2714*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2731*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2703*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2703					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)		CTTAGGACTCGAATTAGAGCT	0.438000													37	69					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51057742	51057742	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51057742A>C	ENST00000441560.2	+	4	847	c.366A>C	c.(364-366)ggA>ggC	p.G122G	ATL1_ENST00000357032.3_Silent_p.G122G|ATL1_ENST00000354525.4_Silent_p.G122G|ATL1_ENST00000358385.6_Silent_p.G122G	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	122					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGACCACAGGAATTCAGATAT	0.353000													16	17					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180324343	180324343	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180324343G>T	ENST00000412756.2	+	9	1193	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	TTC14_ENST00000296015.4_Missense_Mutation_p.R375I|TTC14_ENST00000382584.4_Missense_Mutation_p.R375I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	375							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCAACTCACAGAAATGCAAGA	0.378000													38	64					4.14481e-20	5.66236e-20	1	1	0
DYSF	8291	broad.mit.edu	37	2	71825739	71825739	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71825739T>C	ENST00000258104.3	+	33	3843	c.3566T>C	c.(3565-3567)gTg>gCg	p.V1189A	DYSF_ENST00000409582.3_Missense_Mutation_p.V1206A|DYSF_ENST00000410041.1_Missense_Mutation_p.V1207A|DYSF_ENST00000413539.2_Missense_Mutation_p.V1220A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.V1176A|DYSF_ENST00000429174.2_Missense_Mutation_p.V1189A|DYSF_ENST00000409762.1_Missense_Mutation_p.V1206A|DYSF_ENST00000409651.1_Missense_Mutation_p.V1221A|DYSF_ENST00000410020.3_Missense_Mutation_p.V1207A|DYSF_ENST00000409366.1_Missense_Mutation_p.V1190A|DYSF_ENST00000394120.2_Missense_Mutation_p.V1190A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1189	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGAAGACGGTGGTGGTGAAG	0.607000													13	55					0	0	1	0	0
SLBP	7884	broad.mit.edu	37	4	1698041	1698041	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1698041T>G	ENST00000489418.1	-	6	883	c.517A>C	c.(517-519)Aat>Cat	p.N173H	SLBP_ENST00000318386.4_Missense_Mutation_p.N180H|SLBP_ENST00000488267.1_Missense_Mutation_p.N138H|SLBP_ENST00000429429.2_Missense_Mutation_p.N134H	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	173	RNA-binding.				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TTAAATTTATTAGGGGTCTTG	0.458000													28	97					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78173503	78173503	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78173503G>T	ENST00000535157.1	+	13	941	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Missense_Mutation_p.K259N|SCEL_ENST00000349847.3_Missense_Mutation_p.K279N	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	279	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAATCCAAAGGTAGAAGAAA	0.368000													9	21					7.48243e-07	8.49459e-07	1	1	0
TET1	80312	broad.mit.edu	37	10	70405909	70405909	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70405909A>G	ENST00000373644.4	+	4	3632	c.3423A>G	c.(3421-3423)aaA>aaG	p.K1141K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1141					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATTAACAAAACAAAAGAACC	0.388000													6	55					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40514459	40514459	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40514459G>A	ENST00000347077.4	+	6	597	c.381G>A	c.(379-381)agG>agA	p.R127R	ZNF546_ENST00000600094.1_Silent_p.R101R|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	127	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGGACAAGGAATTGGTTCA	0.463000													29	52					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34921873	34921873	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34921873A>C	ENST00000356577.4	+	3	811	c.336A>C	c.(334-336)aaA>aaC	p.K112N	SON_ENST00000290239.6_Missense_Mutation_p.K112N|SON_ENST00000381679.4_Missense_Mutation_p.K112N|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.K112N	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	112					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAAGCATAAAAAGCACaaaa	0.328000											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	18					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155306999	155306999	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:155306999T>G	ENST00000392825.3	+	13	2174	c.1607T>G	c.(1606-1608)aTg>aGg	p.M536R	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	536	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTGCCTACAATGCAGGACTGT	0.448000													11	30					0	0	1	0	0
FAM209A	200232	broad.mit.edu	37	20	55100881	55100881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:55100881C>T	ENST00000371328.3	+	2	594	c.271C>T	c.(271-273)Cga>Tga	p.R91*	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		TCCTGGCCTTCGAGGCGGCCA	0.438000													49	119					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775932	19775932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19775932G>T	ENST00000284885.3	-	1	41	c.8C>A	c.(7-9)tCg>tAg	p.S3*		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	3					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCCTCTTTTCGACCCCATTTT	0.348000													10	48					7.48243e-07	8.49459e-07	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215793542	215793542	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215793542A>C	ENST00000259154.4	+	18	2324	c.2030A>C	c.(2029-2031)aAc>aCc	p.N677T	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	677						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTAATTTGAACAGAAATGTA	0.418000													26	28					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155652731	155652731	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155652731T>C	ENST00000496455.1	+	14	2038	c.1703T>C	c.(1702-1704)gTt>gCt	p.V568A	GMPS_ENST00000295920.7_Missense_Mutation_p.V469A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	568					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCCACCAGTTAAAGAACCT	0.378000			T	MLL	AML								19	52					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100500053	100500053	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100500053C>T	ENST00000395209.3	+	10	1629	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	DRP2_ENST00000541709.1_Missense_Mutation_p.P290S|DRP2_ENST00000538510.1_Missense_Mutation_p.P368S|DRP2_ENST00000402866.1_Missense_Mutation_p.P368S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	368	WW.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAATAAAGTTCCCTACTACAT	0.493000													83	168					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116534522	116534522	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116534522T>C	ENST00000281928.3	-	4	637	c.431A>G	c.(430-432)aAa>aGa	p.K144R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	144					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACAAACCATTTCCCAATCCT	0.388000													19	18					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55625460	55625460	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55625460C>T	ENST00000247191.2	-	14	1870		c.e14-1		DLGAP5_ENST00000395425.2_Splice_Site	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5						cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTTTTTCTGCAAAGAGA	0.338000													11	20					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44180393	44180393	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44180393G>A	ENST00000417257.1	-	10	1040	c.864C>T	c.(862-864)atC>atT	p.I288I	FRMD5_ENST00000402883.1_Silent_p.I288I|FRMD5_ENST00000484674.1_Silent_p.I194I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	288	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CTTGGTTCTCGATTCCACATT	0.448000													17	33					0	0	1	0	0
TMEM41A	90407	broad.mit.edu	37	3	185214663	185214663	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185214663C>T	ENST00000421852.1	-	2	321	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Missense_Mutation_p.A76T	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	76						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGAGGTAGGCGCCGCAGAAG	0.587000													14	13					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032511	43032511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:43032511C>T	ENST00000399770.2	+	4	827	c.827C>T	c.(826-828)gCt>gTt	p.A276V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	276					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAGTGTACGGCTTGCAATGAA	0.443000													49	73					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154007592	154007592	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154007592C>T	ENST00000413259.3	-	13	1563	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	MPP1_ENST00000369534.3_Missense_Mutation_p.A421T|MPP1_ENST00000393531.1_Missense_Mutation_p.A401T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	421	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGCGGATGGCCTCAGAGTCC	0.527000													20	57					0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085454	35085454	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35085454G>A	ENST00000601241.1	-	2	2115	c.15C>T	c.(13-15)tcC>tcT	p.S5S	SCGB2B2_ENST00000379204.2_Silent_p.S5S|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	5						extracellular region	binding										CACAGGTGGCGGATGTCACCC	0.587000													15	44					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149435833	149435833	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149435833G>A	ENST00000286301.3	-	18	2682	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	797	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGCCAGCCCGAAGTCCCCAA	0.572000													35	81					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508797	26508797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26508797C>T	ENST00000244513.6	+	7	1042	c.976C>T	c.(976-978)Cga>Tga	p.R326*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	326	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AAAATCTGTTCGACTGGAAGA	0.483000													7	180					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1147372	1147372	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1147372T>C	ENST00000361757.3	-	4	452	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SBNO2_ENST00000587024.1_Missense_Mutation_p.D72G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	72					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAGCTGGTGTCTGGGCAGGG	0.687000													26	31					0	0	1	0	0
NHLRC3	387921	broad.mit.edu	37	13	39616246	39616246	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39616246C>A	ENST00000379600.3	+	4	712	c.390C>A	c.(388-390)ttC>ttA	p.F130L	NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	130						extracellular region		p.F130L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTATAGGATTCTTTGGTCATA	0.318000													15	18					3.27435e-08	3.83577e-08	1	1	0
RBFA	79863	broad.mit.edu	37	18	77805878	77805878	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77805878A>G	ENST00000306735.5	+	7	893	c.755A>G	c.(754-756)aAa>aGa	p.K252R	RBFA_ENST00000262197.7_Missense_Mutation_p.K224E|RBFADN_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	252					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATGGAGTACAAAAGGAGGAAA	0.587000													53	69					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58949740	58949740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58949740G>A	ENST00000227451.3	+	2	844	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DTX4_ENST00000532982.1_Missense_Mutation_p.R141Q	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	247					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCACCATTCGAGGCCCACTG	0.652000													14	31					0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16633591	16633591	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16633591C>A	ENST00000250863.8	-	10	1147	c.860G>T	c.(859-861)aGa>aTa	p.R287I	DAZL_ENST00000399444.2_Missense_Mutation_p.R267I	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	267					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AACAGAGTTTCTCAGTCTGTT	0.363000													36	76					1.47197e-15	1.94065e-15	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17428261	17428261	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17428261G>A	ENST00000302539.4	-	26	3365	c.3240C>T	c.(3238-3240)ctC>ctT	p.L1080L	ABCC8_ENST00000389817.3_Silent_p.L1079L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1079	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGACGTGACGAGGCACAGCA	0.587000													10	102					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412056	43412056	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43412056C>T	ENST00000310826.5	-	3	2332	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717K|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717K	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TCCTTGTTTTCTACTGGACTT	0.478000													93	168					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620179	56620179	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56620179G>T	ENST00000321691.3	-	1	1550	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	457										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACAATAAAAGATCTAGGGAA	0.478000													85	157					3.73172e-31	5.33794e-31	1	1	0
PLAA	9373	broad.mit.edu	37	9	26923230	26923230	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:26923230A>C	ENST00000397292.3	-	7	1402	c.985T>G	c.(985-987)Tta>Gta	p.L329V	PLAA_ENST00000520884.1_Missense_Mutation_p.L329V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	329					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATGTCCCCTAAATCGCCAGTT	0.393000													4	83					0	0	1	0	0
TUBBP1	0	broad.mit.edu	37	8	30210772	30210772	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30210772G>A	ENST00000518096.1	+	0	1384																											CAACATGAACGACCTCGTCTC	0.587000													19	69					0	0	1	0	0
DLX3	1747	broad.mit.edu	37	17	48068973	48068973	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48068973T>C	ENST00000434704.2	-	3	997	c.772A>G	c.(772-774)Agt>Ggt	p.S258G	DLX3_ENST00000512495.2_Missense_Mutation_p.S138G	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGGGGTCCACTCAGGTTCTGT	0.682000													17	25					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132075553	132075553	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132075553A>G	ENST00000336375.5	+	10	1082	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	ACPP_ENST00000475741.1_Missense_Mutation_p.Y298C|ACPP_ENST00000351273.7_Missense_Mutation_p.Y331C	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	331						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGATGTACTATCGGAATGAG	0.532000													53	98					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866291	131866291	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131866291C>T	ENST00000359827.3	-	18	4303	c.3341G>A	c.(3340-3342)aGg>aAg	p.R1114K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1114K			Q9HCM2	PLXA4_HUMAN	plexin A4	1114	IPT/TIG 3.					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						CTCCTCGGGCCTCTCGGTCAG	0.577000													32	70					0	0	1	0	0
USP29	0	broad.mit.edu	37	19	57640189	57640189	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640189G>T	ENST00000254181.4	+	4	600	c.146G>T	c.(145-147)aGa>aTa	p.R49I	USP29_ENST00000598197.1_Missense_Mutation_p.R49I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	49					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTTATAAGAATTTTTCAG	0.353000													13	17					0.000219431	0.000235335	1	1	0
SGOL1	151648	broad.mit.edu	37	3	20219833	20219833	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:20219833C>T	ENST00000412997.1	-	4	697	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SGOL1_ENST00000442720.1_Missense_Mutation_p.E116K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E116K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E116K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Missense_Mutation_p.E116K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E116K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E116K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E116K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E116K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E116K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E116K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Missense_Mutation_p.E116K	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	116	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GAACATATTTCCTGGTTCTGT	0.313000													13	28					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119575	55119575	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55119575T>C	ENST00000414150.2	+	3	1254	c.976T>C	c.(976-978)Tgc>Cgc	p.C326R	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.C326R|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.C326R|MROH7_ENST00000421030.2_Missense_Mutation_p.C326R|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		TCCACCCTCATGCATGACTCT	0.562000													54	101					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686288	108686288	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108686288C>T	ENST00000312143.7	-	3	815	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	151					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCGAACGCTGCGGTGGTTCTG	0.567000													4	90					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773557	52773557	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52773557T>G	ENST00000360540.5	-	3	561	c.155A>C	c.(154-156)aAa>aCa	p.K52T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000521344.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	52						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCTAAGTCTTTGTAAGCATT	0.408000													18	38					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118045593	118045593	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118045593G>T	ENST00000356554.3	+	12	2528		c.e12+1			NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAACATTAAAGTAAGTATATA	0.333000													8	7					5.18039e-06	5.75679e-06	1	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52705261	52705261	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52705261G>A	ENST00000322088.6	+	2	201	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E27K|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	48	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAGGACCCGAAGTGAGCTT	0.512000			Mis		clear cell ovarian carcinoma								16	22					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908881	10908881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10908881G>T	ENST00000298232.7	-	22	1777	c.1410C>A	c.(1408-1410)taC>taA	p.Y470*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y450*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.Y488*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	488	C2 tensin-type.		L -> P (in dbSNP:rs150482).		signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTGTCATAGTATGTAGGAA	0.274000													8	29					0.00307968	0.00320271	1	1	0
ZNF286A	57335	broad.mit.edu	37	17	15620411	15620411	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620411G>T	ENST00000464847.2	+	5	1926	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I	ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R458I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAACATCAAAGAATTCATATT	0.408000													19	26					2.4624e-09	2.95225e-09	1	1	0
SNX7	51375	broad.mit.edu	37	1	99161227	99161227	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99161227A>C	ENST00000370189.5	+	6	965	c.601A>C	c.(601-603)Aat>Cat	p.N201H	SNX7_ENST00000306121.3_Missense_Mutation_p.N265H|SNX7_ENST00000529992.1_Missense_Mutation_p.N210H			Q9UNH6	SNX7_HUMAN	sorting nexin 7	201					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCAGAAAATAAATTTGATAGA	0.338000													6	54					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108165729	108165729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108165729C>T	ENST00000278616.4	+	32	5237	c.4852C>T	c.(4852-4854)Cga>Tga	p.R1618*	ATM_ENST00000452508.2_Nonsense_Mutation_p.R1618*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1618					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAGGATCTTCGAAGACAACT	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			24	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062453	9062453	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9062453C>T	ENST00000397910.4	-	3	25196	c.24993G>A	c.(24991-24993)gaG>gaA	p.E8331E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8333	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCAGTCTCTCATGGGAGG	0.498000													42	88					0	0	1	0	0
IGHG2	0	broad.mit.edu	37	14	106110409	106110409	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106110409G>A	ENST00000390545.2	-	0	326																											GCTTACCTGGGCACGGTGGGC	0.622000													72	108					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102665933	102665933	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102665933G>A	ENST00000315274.6	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	291	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ACTTCTCCCCGAATCGTAGTT	0.398000													6	94					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31947829	31947829	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31947829T>G	ENST00000357033.4	-	47	7002	c.6796A>C	c.(6796-6798)Att>Ctt	p.I2266L	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2262L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2266					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTTTGAGAATTCCCTGGCGC	0.418000													32	56					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977765	196977765	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:196977765T>G	ENST00000367414.5	+	10	1790	c.1734T>G	c.(1732-1734)ttT>ttG	p.F578L	CFHR5_ENST00000256785.4_Missense_Mutation_p.F554L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	554					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CACCACCATTTCGAGCAATCT	0.353000													20	44					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1740581	1740581	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1740581A>G	ENST00000397196.2	+	2	293	c.61A>G	c.(61-63)Aca>Gca	p.T21A	WNT5B_ENST00000310594.3_Missense_Mutation_p.T21A|WNT5B_ENST00000537031.1_Missense_Mutation_p.T21A|WNT5B_ENST00000542408.1_Missense_Mutation_p.T21A	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	21					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCAGCTTCTGACAGACGCCAA	0.642000													28	57					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638687	2638687	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2638687C>A	ENST00000329276.5	+	12	2048	c.1532C>A	c.(1531-1533)tCt>tAt	p.S511Y	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	511	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAAAAGAAATCTTTTTCCAAG	0.448000													28	51					8.58068e-18	1.15595e-17	1	1	0
FBRS	64319	broad.mit.edu	37	16	30680679	30680679	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30680679G>T	ENST00000356166.6	+	18	3744	c.2656G>T	c.(2656-2658)Gca>Tca	p.A886S	FBRS_ENST00000395073.2_Missense_Mutation_p.A278S|FBRS_ENST00000287468.5_Missense_Mutation_p.A366S|FBRS_ENST00000568722.1_Missense_Mutation_p.A278S			Q9HAH7	FBRS_HUMAN	fibrosin	366										ovary(1)	1			Colorectal(24;0.103)			AACCTGGTTGGCAGCACCCCC	0.692000													19	43					6.94344e-10	8.4399e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237972271	237972271	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237972271G>A	ENST00000366574.2	+	100	14686	c.14369G>A	c.(14368-14370)cGa>cAa	p.R4790Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4788Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTTTTTCCGAAAATTCTAC	0.353000													61	103					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317859	128317859	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128317859G>A	ENST00000480462.1	+	3	713	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E194K			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	203										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CAACTCCACAGAAACAACAGT	0.438000													11	24					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55081645	55081645	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55081645A>C	ENST00000505374.1	+	13	902	c.810A>C	c.(808-810)aaA>aaC	p.K270N	DDX4_ENST00000354991.5_Missense_Mutation_p.K236N|DDX4_ENST00000514278.2_Missense_Mutation_p.K250N|DDX4_ENST00000511853.1_Missense_Mutation_p.K121N|DDX4_ENST00000353507.5_Missense_Mutation_p.K236N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	270					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCGACAAATACGACACTA	0.428000													13	29					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32811907	32811907	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32811907G>T	ENST00000397452.1	-	15	1506	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	BPIFC_ENST00000300399.3_Missense_Mutation_p.L466I|BPIFC_ENST00000432451.2_Missense_Mutation_p.L223I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L190I			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	466						extracellular region	lipopolysaccharide binding|phospholipid binding										CTTACCTCAAGAACTTCAATA	0.343000													12	13					0.105934	0.10725	1	1	0
CFLAR	8837	broad.mit.edu	37	2	202025201	202025201	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202025201A>T	ENST00000309955.2	+	9	1355	c.840A>T	c.(838-840)aaA>aaT	p.K280N	CFLAR_ENST00000423241.2_Missense_Mutation_p.K280N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K184N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K280N|CFLAR_ENST00000443227.1_Missense_Mutation_p.K184N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K280N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.K245N	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	280	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAGTCCAGAAATTCTTGCATC	0.478000													52	96					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242220	3242220	+	Silent	SNP	G	G	A	rs151156772		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3242220G>A	ENST00000217939.6	-	5	1660	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	502	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCTTTCACGTTGCAGCTCA	0.542000													50	96					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613438	613438	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:613438G>T	ENST00000409413.3	+	2	423	c.144G>T	c.(142-144)gaG>gaT	p.E48D		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	48										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCTGGAGAAGTCACACC	0.612000													33	88					2.48696e-23	3.47605e-23	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55944895	55944895	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55944895G>A	ENST00000373965.2	-	13	1854	c.1461_splice	c.e13+1	p.S487_splice	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.S485_splice|PCDH15_ENST00000361849.3_Splice_Site_p.S480_splice|PCDH15_ENST00000395430.1_Splice_Site_p.S480_splice|PCDH15_ENST00000373955.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395445.1_Splice_Site_p.S487_splice|PCDH15_ENST00000409834.1_Splice_Site_p.S91_splice|PCDH15_ENST00000437009.1_Splice_Site_p.S480_splice|PCDH15_ENST00000373957.3_Splice_Site_p.S458_splice|PCDH15_ENST00000395446.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395438.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395433.1_Splice_Site_p.S458_splice|PCDH15_ENST00000320301.6_Splice_Site_p.S480_splice|PCDH15_ENST00000395432.2_Splice_Site_p.S443_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	480	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S485L(1)|p.S480L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCTTTACCGAAAAGGTGTA	0.383000										HNSCC(58;0.16)			12	37					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972843	32972843	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32972843A>G	ENST00000544455.1	+	27	10420	c.10193A>G	c.(10192-10194)cAg>cGg	p.Q3398R	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3398					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGAGTTCCCAGGCCAGTACG	0.398000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			22	47					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99944079	99944079	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99944079A>G	ENST00000264255.3	-	3	482	c.227T>C	c.(226-228)aTc>aCc	p.I76T	TXNDC9_ENST00000409434.1_Missense_Mutation_p.I76T	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	76	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						TTCACTAGGGATTTCTCTGTA	0.388000													12	27					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005204	102005204	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102005204G>T	ENST00000372735.1	+	4	1866	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	BHLHB9_ENST00000448867.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.K427N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.K427N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	427						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						CTGGATTAAAGATACTAGGAC	0.378000													23	60					2.89027e-11	3.58842e-11	1	1	0
CLEC10A	10462	broad.mit.edu	37	17	6981396	6981396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6981396C>T	ENST00000576617.1	-	3	373	c.104G>A	c.(103-105)tGc>tAc	p.C35Y	CLEC10A_ENST00000254868.4_Missense_Mutation_p.C35Y|CLEC10A_ENST00000416562.2_Missense_Mutation_p.C35Y|CLEC10A_ENST00000571664.1_Missense_Mutation_p.C35Y			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	35			C -> R (in dbSNP:rs90951).		endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGCCCAGAGCAGAGACGCTG	0.622000													7	179					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182767184	182767184	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182767184A>C	ENST00000431877.2	+	8	1583	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SSFA2_ENST00000320370.7_Missense_Mutation_p.E468D|SSFA2_ENST00000428267.2_Missense_Mutation_p.E315D|SSFA2_ENST00000409001.1_Missense_Mutation_p.E468D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	468						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCCTTCGAAATGGAAGAGG	0.368000													27	34					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32403220	32403220	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32403220T>A	ENST00000265069.8	-	8	1609	c.1507A>T	c.(1507-1509)Aat>Tat	p.N503Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	503					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCAACAAAATTTATTTTGGGG	0.418000													23	33					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769356	176769356	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:176769356T>G	ENST00000430069.1	-	5	622	c.363A>C	c.(361-363)caA>caC	p.Q121H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q121H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	121					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTGCAGATCCTTGTTGGCTGG	0.448000													30	53					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39095357	39095357	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39095357A>C	ENST00000295373.6	-	2	317	c.191T>G	c.(190-192)tTt>tGt	p.F64C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	64							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAAGATACAAAAGTCATCTCC	0.468000													24	72					0	0	1	0	0
PNPO	55163	broad.mit.edu	37	17	46022057	46022057	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46022057C>T	ENST00000225573.4	+	3	444	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PNPO_ENST00000544840.1_Silent_p.F113F|PNPO_ENST00000434554.2_Silent_p.F113F|PNPO_ENST00000534893.1_Silent_p.F18F	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	113					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	TCACTAACTTCGAGAGTCGAA	0.507000													50	92					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36999943	36999943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36999943G>T	ENST00000217407.2	+	12	1398	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	413					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAACTGAAAGAATCCAAAGT	0.383000													4	29					0.150653	0.151842	1	1	0
LPAR3	23566	broad.mit.edu	37	1	85331550	85331550	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85331550A>C	ENST00000440886.1	-	1	292	c.254T>G	c.(253-255)tTc>tGc	p.F85C	LPAR3_ENST00000370611.3_Missense_Mutation_p.F85C|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	85					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAACATCAGGAATACATAGGC	0.463000													82	124					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605648	90605648	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90605648G>A	ENST00000369352.1	+	1	1461	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	487					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)		CAGCCCTACCGATCATGGAAC	0.478000													39	76					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175824668	175824668	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175824668T>C	ENST00000310418.4	-	4	609	c.404A>G	c.(403-405)gAc>gGc	p.D135G	CLTB_ENST00000345807.2_Missense_Mutation_p.D135G	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	135	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CTCCTCCAGGTCCTTCTTGGC	0.552000													6	78					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583039	101583039	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101583039T>C	ENST00000310954.6	-	10	2014	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	576					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATATGGGCAGTTTCGCACAAT	0.363000													30	58					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027492	103027492	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103027492G>A	ENST00000375735.2	+	26	4264	c.4120G>A	c.(4120-4122)Gat>Aat	p.D1374N	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1374N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1374	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTTGATGAAGATTTTAGGTC	0.338000													19	35					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71390374	71390374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71390374G>A	ENST00000392650.3	-	26	3682	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1228C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1228	Fibronectin type-III 7.				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						AGCCCGTTGCGATCAGCCTCG	0.657000													8	15					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811074	106811074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:106811074G>T	ENST00000407775.2	+	7	1112	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E19*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	288					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGGAAAATGAAGACAGTGC	0.517000													36	88					2.40579e-17	3.22781e-17	1	1	0
RSAD2	91543	broad.mit.edu	37	2	7030405	7030405	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:7030405C>T	ENST00000382040.3	+	4	973	c.837C>T	c.(835-837)ttC>ttT	p.F279F	RSAD2_ENST00000541728.1_Silent_p.F172F	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	279					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTGAAAGATTCTTGGAGCGCC	0.393000													19	35					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7733753	7733753	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7733753A>C	ENST00000572933.1	+	78	13449	c.11989A>C	c.(11989-11991)Aag>Cag	p.K3997Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K3997Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3997	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAACGCAAAAAGTTCCTGCA	0.478000													35	71					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797840	148797840	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:148797840T>G	ENST00000355220.5	+	5	796	c.694T>G	c.(694-696)Tta>Gta	p.L232V	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L203V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	232	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTGGTTCATTTATTGCTCCG	0.438000													47	88					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201436810	201436810	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201436810T>G	ENST00000357799.4	+	7	1839	c.1741T>G	c.(1741-1743)Tta>Gta	p.L581V		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)	581					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						TAATGGAAATTTATGTGATTA	0.328000													24	52					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037959	105037959	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105037959G>A	ENST00000369849.4	+	1	1040	c.991G>A	c.(991-993)Ggg>Agg	p.G331R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	331	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGCCTGCGCGGGGCCAACGA	0.711000													5	11					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170849	58170849	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170849G>T	ENST00000309403.2	-	1	33	c.34C>A	c.(34-36)Ctt>Att	p.L12I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	12					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)				AGTCCTAGAAGAATGAATTGT	0.388000													18	74					1.56452e-12	1.97515e-12	1	1	0
CYP2A7	1549	broad.mit.edu	37	19	41386003	41386003	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41386003T>C	ENST00000301146.4	-	4	1181	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.T163A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	214						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGAGGTTGACGTGAAC	0.572000													37	70					0	0	1	0	0
C3P1	0	broad.mit.edu	37	19	10169496	10169496	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10169496C>T	ENST00000495140.1	+	0	1896																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						AATTTGATGGCCAGCATCGAG	0.572000													24	51					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397857	23397857	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23397857T>C	ENST00000379361.4	+	2	1361	c.501T>C	c.(499-501)aaT>aaC	p.N167N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	167					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						GGGCCACCAATCGGACCAATT	0.488000													27	132					0	0	1	0	0
PCDHGB2	0	broad.mit.edu	37	5	140740546	140740546	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140740546C>A	ENST00000522605.1	+	1	844	c.844C>A	c.(844-846)Cat>Aat	p.H282N	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCCTTTCATAATGTGGA	0.453000													4	32					0.00909568	0.00935351	1	1	0
FAM45A	404636	broad.mit.edu	37	10	120877030	120877030	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120877030G>A	ENST00000361432.2	+	4	358		c.e4-1		FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_Splice_Site|FAM45A_ENST00000535029.1_Splice_Site	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CTTTCTTACAGAATGTACCTG	0.443000													42	71					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55873084	55873084	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:55873084C>A	ENST00000388975.3	-	9	1103		c.e9-1			NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14						cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTGAAAACTAAAGAGAAA	0.398000													4	11					0.00909568	0.00935351	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182350655	182350655	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350655A>G	ENST00000397033.2	+	10	1519	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	363					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.K363N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAAGTGACAAATATGCTGCAA	0.368000													27	44					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692492	20692492	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692492C>A	ENST00000315519.2	+	1	702	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCTGCATCTCTGCTCCTT	0.498000													12	24					2.27111e-07	2.60515e-07	1	1	0
MRPS33	51650	broad.mit.edu	37	7	140710232	140710232	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140710232G>T	ENST00000393008.3	-	2	357	c.202C>A	c.(202-204)Ctt>Att	p.L68I	MRPS33_ENST00000469351.1_Missense_Mutation_p.L68I|MRPS33_ENST00000496958.1_Missense_Mutation_p.L68I|MRPS33_ENST00000324787.5_Missense_Mutation_p.L68I|MRPS33_ENST00000467334.1_Missense_Mutation_p.L58I	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	68					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					TAGAGTCCAAGAAATCGGAGC	0.413000													23	38					4.7796e-09	5.70246e-09	1	1	0
KPRP	448834	broad.mit.edu	37	1	152733586	152733586	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152733586C>A	ENST00000368773.1	+	2	1580	c.1522C>A	c.(1522-1524)Cca>Aca	p.P508T	KPRP_ENST00000606109.1_Missense_Mutation_p.P508T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	508	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAGTTCCATACCCAGG	0.632000													28	60					2.41591e-17	3.2383e-17	1	1	0
LRPPRC	10128	broad.mit.edu	37	2	44170828	44170828	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44170828T>G	ENST00000260665.7	-	23	2559	c.2502A>C	c.(2500-2502)gaA>gaC	p.E834D		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	834					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAACTTACTTTTCCAAGTGTA	0.338000													10	51					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489882	65489882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65489882G>T	ENST00000261883.4	-	9	2908	c.2742C>A	c.(2740-2742)ttC>ttA	p.F914L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	914					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAATCTGGTAGAACCGGAAGT	0.547000													33	62					2.68265e-12	3.37613e-12	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222307707	222307707	+	Missense_Mutation	SNP	C	C	T	rs147566564		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:222307707C>T	ENST00000281821.2	-	11	1957	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	EPHA4_ENST00000409938.1_Missense_Mutation_p.R639H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	639	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACTTTGAGACGCCCACTGCA	0.448000													16	44					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967198	23967198	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23967198G>A	ENST00000335694.4	-	2	255	c.51C>T	c.(49-51)gaC>gaT	p.D17D	GGTLC1_ENST00000278765.4_Silent_p.D17D|GGTLC1_ENST00000286890.4_Silent_p.D17D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	17							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGTGAGTGGTGTCGTCAGAGA	0.632000													24	67					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140515755	140515755	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140515755T>C	ENST00000231134.5	+	1	956	c.739T>C	c.(739-741)Tat>Cat	p.Y247H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		247	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCATTCTATGAGGTACA	0.522000													25	275					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685489	20685489	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20685489G>T	ENST00000404938.2	+	8	1441	c.789G>T	c.(787-789)gaG>gaT	p.E263D		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	449	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGCCCAGGAGAAAGAACTTC	0.403000													9	102					0.00448238	0.00465112	1	1	0
BAHD1	22893	broad.mit.edu	37	15	40754371	40754371	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40754371C>T	ENST00000561234.1	+	3	1949	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	BAHD1_ENST00000416165.1_Missense_Mutation_p.R565C|BAHD1_ENST00000560846.1_Missense_Mutation_p.R565C			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	565	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAAGGCTGCCCGCAGGCCTAG	0.692000													39	59					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5699533C>T	ENST00000305836.5	-	4	947	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.T215T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527000													8	50					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42024887	42024887	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:42024887G>A	ENST00000264451.6	+	5	647	c.467G>A	c.(466-468)cGa>cAa	p.R156Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	156					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAGACGACGAAGTCCCCAT	0.328000													15	25					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14709678	14709678	+	Nonsense_Mutation	SNP	G	G	A	rs111681891		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14709678G>A	ENST00000181796.2	-	2	657	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	74										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423000													16	21					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12491458	12491458	+	Missense_Mutation	SNP	C	C	T	rs139772377	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12491458C>T	ENST00000535902.1	-	3	823	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	MANSC1_ENST00000396349.3_Missense_Mutation_p.R53Q|MANSC1_ENST00000545735.1_Missense_Mutation_p.R6Q			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	87	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGCTGTTTTTCGAGTGTCGAA	0.403000													12	77					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873887	151873887	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151873887C>T	ENST00000355193.2	-	38	8869	c.8651G>A	c.(8650-8652)cGa>cAa	p.R2884Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.R2884Q					lysine (K)-specific methyltransferase 2C																		AGCAGTTTCTCGATTGGTTCT	0.438000													18	37					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407539	105407539	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105407539G>A	ENST00000333244.5	-	7	14368	c.14249C>T	c.(14248-14250)tCg>tTg	p.S4750L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4750						nucleus		p.S4750L(1)		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)			TGAACAAGCCGAAACCTGTTG	0.438000													20	55					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052807	17052807	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17052807G>A	ENST00000418129.2	+	2	2056	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	PLCL2_ENST00000396755.2_Missense_Mutation_p.A531T|PLCL2_ENST00000432376.1_Missense_Mutation_p.A531T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	657	PI-PLC X-box.				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						CAGCAAGTACGCCAATGAAAA	0.403000													38	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595004	179595004	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179595004C>A	ENST00000589042.1	-	62	18347	c.18123G>T	c.(18121-18123)atG>atT	p.M6041I	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M4797I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M5724I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5724	Ig-like 41.						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)			ACTTTATTGTCATGGGTGCAG	0.478000													7	18					8.12818e-05	8.79784e-05	1	1	0
VCAN	1462	broad.mit.edu	37	5	82837802	82837802	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82837802C>A	ENST00000265077.3	+	8	9545	c.8980C>A	c.(8980-8982)Cta>Ata	p.L2994I	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L2007I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2994	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTGCCTTGGCTAAGTCCACA	0.498000													41	61					2.40579e-17	3.22781e-17	1	1	0
FEM1B	10116	broad.mit.edu	37	15	68583077	68583077	+	Missense_Mutation	SNP	G	G	A	rs147988457		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68583077G>A	ENST00000306917.4	+	2	1996	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	461					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.E461delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTGCAGCGAAGAAGATCA	0.403000													30	67					0	0	1	0	0
ALMS1P	0	broad.mit.edu	37	2	73899614	73899614	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73899614C>T	ENST00000450720.1	+	0	486					NR_003683.2																						AAGAAGAATTCCCATGAAGGT	0.383000													5	21					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982839	7982839	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982839C>T	ENST00000328600.2	-	2	481	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	107							ATP binding	p.R107H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGGCAGCGCACATGCTC	0.507000													4	80					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341372	39341372	+	Missense_Mutation	SNP	G	G	A	rs147701327		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39341372G>A	ENST00000263408.4	-	4	447	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	118	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCATTACACCGAAGTCGCATC	0.428000													34	62					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201969	123201969	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123201969T>G	ENST00000349780.4	-	24	3609	c.3430A>C	c.(3430-3432)Att>Ctt	p.I1144L	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1144	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAAACTGTAATTATGGCCTCA	0.443000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	37					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814249	31814249	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31814249C>A	ENST00000375454.3	+	5	784	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L156I	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	192						extracellular region	lipid binding										TCTCTACAACCTCAAAGAGAA	0.428000													9	23					0.000274275	0.000292037	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215884496	215884496	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215884496C>T	ENST00000272895.7	-	12	1531	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E120K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	438					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGAAGTTCGGTCAAGTTT	0.368000													13	33					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829734	38829734	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829734A>G	ENST00000436693.2	-	2	1480	c.1361T>C	c.(1360-1362)gTa>gCa	p.V454A	TLR6_ENST00000381950.1_Missense_Mutation_p.V454A	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	454					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGATCAAGTACCTTGATCCT	0.363000													38	56					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99872788	99872788	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:99872788G>A	ENST00000524871.1	+	9	1190	c.900G>A	c.(898-900)ccG>ccA	p.P300P	CNTN5_ENST00000418526.2_Silent_p.P226P|CNTN5_ENST00000528682.1_Silent_p.P300P|CNTN5_ENST00000279463.3_Silent_p.P300P|CNTN5_ENST00000527185.1_Silent_p.P300P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	300	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATATGAGCCGAAAATTGAGG	0.363000													3	4					0	0	1	0	0
SP5	389058	broad.mit.edu	37	2	171573092	171573092	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171573092C>A	ENST00000375281.3	+	2	537	c.375C>A	c.(373-375)ttC>ttA	p.F125L		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCTACGAGTTCTCGCCGGTCA	0.726000													10	34					3.86212e-05	4.21111e-05	1	1	0
SNX27	81609	broad.mit.edu	37	1	151611416	151611416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151611416C>T	ENST00000368843.3	+	2	484	c.364C>T	c.(364-366)Cga>Tga	p.R122*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.R29*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.R122*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	122	PDZ.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACCTGATTCGAGCAGGCGA	0.483000													27	36					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433721	72433721	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433721T>A	ENST00000373517.3	-	1	963	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	NAP1L2_ENST00000536638.1_Missense_Mutation_p.Y61F	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	203	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATAGTCCTCATAACCATCGTC	0.443000													31	35					0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73045231	73045231	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73045231G>A	ENST00000311669.8	-	7	1035	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ADPGK_ENST00000456471.2_Silent_p.V40V	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	315	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CCGCGGGAAAGACCTGCTAAC	0.483000													22	24					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42163004	42163004	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42163004C>T	ENST00000444063.1	+	12	1542	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	L3MBTL1_ENST00000373134.1_Silent_p.S470S|L3MBTL1_ENST00000427442.2_Silent_p.S538S|L3MBTL1_ENST00000418998.1_Silent_p.S538S|L3MBTL1_ENST00000373135.3_Silent_p.S470S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	470					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCGTGGCCAGCGTGGAGGATG	0.602000													27	38					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836602	43836602	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43836602A>C	ENST00000372781.3	+	2	721	c.664A>C	c.(664-666)Aat>Cat	p.N222H	SEMG1_ENST00000244069.6_Missense_Mutation_p.N222H	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)				GCATTACCAAAATGTGGTTGA	0.398000													34	64					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54978869	54978869	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:54978869A>G	ENST00000316881.4	-	4	1047	c.998T>C	c.(997-999)cTg>cCg	p.L333P	TRIM25_ENST00000537230.1_Missense_Mutation_p.L333P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	333	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCCTTTTATCAGCTTGTGGTT	0.542000													89	232					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111776197	111776197	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:111776197C>T	ENST00000261726.6	+	20	3458	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1102						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						GGGGCGGGAGCCTTTTGTCCG	0.577000													27	54					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101464879	101464879	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101464879T>G	ENST00000388948.3	+	2	401	c.42T>G	c.(40-42)tgT>tgG	p.C14W	LRRK1_ENST00000532029.2_Missense_Mutation_p.C14W|LRRK1_ENST00000284395.5_5'UTR	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	14					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTACTGGTGTGTGGGGCCGG	0.602000													12	81					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662932	99662932	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99662932C>T	ENST00000373034.4	-	1	2339	c.664G>A	c.(664-666)Gtt>Att	p.V222I	PCDH19_ENST00000420881.2_Missense_Mutation_p.V222I|PCDH19_ENST00000255531.7_Missense_Mutation_p.V222I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTAAGGCCAACGGTGCCCAGG	0.607000													56	99					0	0	1	0	0
SPATA31D5P	0	broad.mit.edu	37	9	84532492	84532492	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:84532492A>C	ENST00000527857.1	+	0	2514					NR_026851.1																						CTAGGTCAGAAACAACTTGAA	0.453000													9	57					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564014	37564014	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37564014C>T	ENST00000300651.6	-	17	4683	c.4460G>A	c.(4459-4461)cGa>cAa	p.R1487Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1487					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGAAGTGGTCGGATACCATC	0.458000										HNSCC(31;0.082)			15	24					0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174038	74174038	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:74174038C>A	ENST00000300504.2	+	3	305	c.222C>A	c.(220-222)ttC>ttA	p.F74L	TBC1D21_ENST00000535547.2_Missense_Mutation_p.F38L|TBC1D21_ENST00000562056.1_Missense_Mutation_p.F74L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	74	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CGGGCTACTTCTCATGGCAGA	0.617000													21	44					1.96292e-10	2.40731e-10	1	1	0
C19orf18	147685	broad.mit.edu	37	19	58472793	58472793	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58472793C>T	ENST00000314391.3	-	5	599	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	166						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATTTTCGTTCTCTGGAAGTA	0.488000													19	41					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436594	436594	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:436594C>A	ENST00000338977.5	-	2	1674	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.E554D|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTAGGGTTTCTCTCCAGTAT	0.403000													38	67					1.03484e-13	1.33003e-13	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237828	33237828	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33237828G>T	ENST00000401073.2	+	6	3118	c.3048G>T	c.(3046-3048)aaG>aaT	p.K1016N	KIAA1522_ENST00000373480.1_Missense_Mutation_p.K957N|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K968N|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	957										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGCCCCAAAGAAGTCACCTA	0.672000													28	53					1.42536e-11	1.77514e-11	1	1	0
ST3GAL4	6484	broad.mit.edu	37	11	126279209	126279209	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126279209A>C	ENST00000526727.1	+	8	1048	c.674A>C	c.(673-675)aAt>aCt	p.N225T	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.N224T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.N214T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.N220T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.N225T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.N221T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.N231T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.N221T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	225					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGGGATGTCAATCCTAAACAG	0.517000													49	101					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832663	34832663	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34832663G>A	ENST00000299505.6	+	10	2697	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	608										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGTCAGCTCAGAATTCCAGTA	0.448000													33	50					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558971	129558971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:129558971C>A	ENST00000422113.2	-	9	3075	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E455*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	917						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCCAATTTCTAAGTCGCTC	0.478000													41	63					2.2871e-25	3.22072e-25	1	1	0
SUSD3	203328	broad.mit.edu	37	9	95840161	95840161	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95840161T>C	ENST00000375472.3	+	3	347	c.311T>C	c.(310-312)gTg>gCg	p.V104A	SUSD3_ENST00000375469.1_Missense_Mutation_p.V91A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	104						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGCTTCAAGGTGGCCGTGATC	0.597000													23	54					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97405653	97405653	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97405653A>G	ENST00000264963.4	-	1	147	c.125T>C	c.(124-126)gTc>gCc	p.V42A	LMAN2L_ENST00000377079.4_Missense_Mutation_p.V42A|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	42					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ACCCGCCCCGACTTGCTGTGG	0.632000													37	67					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617759	100617759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100617759C>A	ENST00000267294.4	-	2	2097	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	622					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGTACCACTCATTGAGGTTG	0.607000													37	59					3.21399e-22	4.46229e-22	1	1	0
GBP2	2634	broad.mit.edu	37	1	89587645	89587645	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89587645G>A	ENST00000370466.3	-	2	273	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	2					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GATCTCTGGAGCCATGTCCAG	0.443000													32	65					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243602	12243602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243602G>A	ENST00000334213.5	-	4	1623	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TCATGATATCGAATGGAACTG	0.403000													23	73					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76990353	76990353	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76990353A>G	ENST00000315938.4	-	3	395	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	GDPD4_ENST00000527489.1_Intron|GDPD4_ENST00000376217.2_Silent_p.L49L	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	49					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TTACTCACCAACAGCAATGAA	0.438000													14	23					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141789419	141789419	+	Missense_Mutation	SNP	G	G	T	rs139463111		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141789419G>T	ENST00000306799.3	-	7	1840	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	RNF150_ENST00000420921.2_Missense_Mutation_p.S297Y|RNF150_ENST00000379512.2_Missense_Mutation_p.S297Y|RNF150_ENST00000515673.1_Missense_Mutation_p.S438Y	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	438						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCGTTTCAAGATTTCACTTC	0.468000													17	34					2.94398e-08	3.45884e-08	1	1	0
COL9A2	1298	broad.mit.edu	37	1	40775941	40775941	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40775941C>T	ENST00000372748.3	-	14	829	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	245	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTTACCGTCTCTCCCTTGGGC	0.562000													5	69					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142583	158142583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:158142583C>A	ENST00000259056.4	+	3	2163	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	560	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGTTCGGATTCTTCGCCTCAA	0.358000													14	32					1.52009e-12	1.92208e-12	1	1	0
BRSK2	9024	broad.mit.edu	37	11	1459617	1459617	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1459617T>G	ENST00000308219.9	+	3	654	c.268T>G	c.(268-270)Tat>Gat	p.Y90D	BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D|BRSK2_ENST00000528841.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	90	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AAACAAAAAATATTTGTAGGT	0.582000													39	79					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115773	5115773	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:5115773G>A	ENST00000315997.5	-	1	338	c.137C>T	c.(136-138)gCc>gTc	p.A46V	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.A84V|C16orf89_ENST00000474471.3_Missense_Mutation_p.A46V|C16orf89_ENST00000350219.4_Missense_Mutation_p.A84V|C16orf89_ENST00000472572.3_Missense_Mutation_p.A46V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	46						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GAAGACGGTGGCTCTCTCCAG	0.587000													26	43					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238515	69238515	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238515T>G	ENST00000310673.3	+	2	796	c.642T>G	c.(640-642)ttT>ttG	p.F214L	NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	214					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CCGAAGAGTTTGGAAAGCACC	0.403000													47	67					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951498	235951498	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235951498C>T	ENST00000409212.1	+	4	2592	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	SH3BP4_ENST00000392011.2_Silent_p.G695G|SH3BP4_ENST00000344528.4_Silent_p.G695G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	695					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGCTCCGGGGCCAGCTGTGGA	0.652000													8	85					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119451299	119451299	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119451299A>C	ENST00000273390.5	+	9	1254	c.1177A>C	c.(1177-1179)Aac>Cac	p.N393H		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TGTAGTAAAAAACTACTATCT	0.338000													7	13					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6014728	6014728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6014728A>C	ENST00000259569.5	-	1	890	c.880T>G	c.(880-882)Ttg>Gtg	p.L294V	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	294					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTTTCAGACAAGGTCACTATA	0.398000													13	29					0	0	1	0	0
FPGT-TNNI3K	0	broad.mit.edu	37	1	74801723	74801723	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74801723C>T	ENST00000370895.1	+	9	910	c.875C>T	c.(874-876)gCt>gTt	p.A292V	TNNI3K_ENST00000326637.3_Missense_Mutation_p.A191V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A292V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A292V|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A292V			Q59H18	TNI3K_HUMAN		191						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AAATTTGGTGCTGATGTAAAT	0.358000													8	25					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719431	40719431	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40719431C>T	ENST00000253055.3	+	9	2133	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	615					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGAGGAGTTCGCGGAGGCAG	0.706000													15	17					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65639662	65639662	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:65639662C>T	ENST00000308330.2	+	12	2541	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	839	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TGTTAAATGTCTGTCTCCAGA	0.299000													22	53					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49084859	49084859	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49084859G>A	ENST00000376265.2	-	7	929	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R225C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R290C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	290					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGCACGCACGCCCTGATCCC	0.617000													15	18					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70714127	70714127	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70714127G>T	ENST00000530196.1	-	0	391					NR_003951.1																						GAGGTGTCTAGAAACCAAGAG	0.502000													33	68					3.80469e-20	5.20151e-20	1	1	0
LRRC25	126364	broad.mit.edu	37	19	18507553	18507553	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18507553C>T	ENST00000339007.3	-	1	874	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	LRRC25_ENST00000595840.1_Missense_Mutation_p.R74Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	74						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGGAAGCTCTCGCAGGCCGTT	0.612000													15	29					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559847	178559847	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178559847C>T	ENST00000251582.7	-	14	2241	c.2140G>A	c.(2140-2142)Gtg>Atg	p.V714M		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	714	Cys-rich.				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)		CCTCCGCACACGCCACACTTG	0.602000													19	24					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27913534	27913534	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:27913534C>A	ENST00000413272.2	-	10	1296	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	NUGGC_ENST00000341513.6_Missense_Mutation_p.R385I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CATTTCATTTCTTTCTAAAAC	0.388000													4	5					1	1	1	1	0
PARM1	25849	broad.mit.edu	37	4	75971446	75971446	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:75971446G>T	ENST00000307428.7	+	4	1134	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	PARM1_ENST00000513238.1_Missense_Mutation_p.D66Y	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	308					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCTGTACGATGACTCCTA	0.438000													12	19					2.61681e-11	3.25035e-11	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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	p.R88Q(53)		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)			GAAACAAGACGACTTTGTGAC	0.363000	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	46					0	0	1	0	0
AKR7L	246181	broad.mit.edu	37	1	19593790	19593790	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19593790G>T	ENST00000420396.2	-	0	802				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GAGCCACAATGAGCTTAGATG	0.507000													16	69					9.16793e-09	1.08598e-08	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79294116	79294116	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79294116G>T	ENST00000419573.3	-	17	2785	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S821S|RASGRF1_ENST00000394745.3_Silent_p.S53S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	839					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCTCTCATGGAGACTTCTG	0.284000													20	39					9.7654e-05	0.000105618	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51612695	51612695	+	Missense_Mutation	SNP	C	C	T	rs146649803		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51612695C>T	ENST00000371117.3	-	58	9994	c.9719G>A	c.(9718-9720)cGa>cAa	p.R3240Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R3240Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3240					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3240Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATACCAATTCGACCTCCTCT	0.478000													47	62					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19032031	19032031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19032031T>G	ENST00000379878.3	-	15	1065	c.824A>C	c.(823-825)aAt>aCt	p.N275T	GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000354791.3_Missense_Mutation_p.N275T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000379869.3_Missense_Mutation_p.N291T	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	291					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGAGGGAACATTGTGGGTCAC	0.557000													75	114					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746280	17746280	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17746280A>G	ENST00000380060.3	+	6	4329	c.3991A>G	c.(3991-3993)Aaa>Gaa	p.K1331E	NHS_ENST00000398097.3_Missense_Mutation_p.K1175E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1331						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCACCATGACAAAGTGCCTGG	0.393000													38	86					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92131270	92131270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92131270A>C	ENST00000248633.4	-	14	2445	c.2350T>G	c.(2350-2352)Ttt>Gtt	p.F784V	PEX1_ENST00000438045.1_Missense_Mutation_p.F462V|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.F727V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	784					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTACTGTAAAATCTCTAGCC	0.378000													52	114					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109202582	109202582	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109202582C>T	ENST00000261483.4	+	22	4370	c.3318C>T	c.(3316-3318)gtC>gtT	p.V1106V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1106					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGTTTATTGTCGAAAGTCTCA	0.348000													27	30					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14690293	14690293	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14690293A>T	ENST00000284274.4	+	6	818	c.740A>T	c.(739-741)aAa>aTa	p.K247I		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	247										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TATAATGATAAAGAGAAAGGA	0.413000													16	31					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116593063	116593063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:116593063G>T	ENST00000369248.4	+	3	531	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.E66*|FAM160B1_ENST00000369246.1_Nonsense_Mutation_p.E66*	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	66										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTGGTTCAAGAAGAAAATGA	0.368000													7	79					0.0293803	0.0299069	1	1	0
ZNF658	26149	broad.mit.edu	37	9	40772234	40772234	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40772234C>A	ENST00000602553.1	-	5	3335	c.3041G>T	c.(3040-3042)aGa>aTa	p.R1014I	ZNF658_ENST00000377626.3_Missense_Mutation_p.R1014I|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1014					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGTGAATTCTCTGGTGTAC	0.443000													38	84					1.62263e-30	2.3181e-30	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212196	28212196	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:28212196T>A	ENST00000284984.2	-	6	2304	c.1850A>T	c.(1849-1851)aAt>aTt	p.N617I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	617	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTCCTCACCATTATTGTCTGG	0.433000													31	72					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606124	48606124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48606124G>T	ENST00000323776.5	+	17	2767	c.2605G>T	c.(2605-2607)Gga>Tga	p.G869*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.G832*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	832					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAGCGGAAAGGAGCAGCCCA	0.527000													15	25					1.15088e-07	1.32965e-07	1	1	0
PYROXD1	79912	broad.mit.edu	37	12	21615024	21615024	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21615024A>G	ENST00000538582.1	+	9	1503	c.750A>G	c.(748-750)ccA>ccG	p.P250P	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.P321P			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	321							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GAGTTACACCAAATGTAGAAC	0.348000													8	31					0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77797377	77797377	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77797377G>T	ENST00000306735.5	+	3	387	c.249G>T	c.(247-249)aaG>aaT	p.K83N	RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.K83N|RBFADN_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	83					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCACCTCAAAGAAAACCAGGA	0.532000													35	76					1.36161e-19	1.85609e-19	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22025633	22025633	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22025633T>C	ENST00000261200.4	-	16	2123	c.2124A>G	c.(2122-2124)ggA>ggG	p.G708G	ABCC9_ENST00000345162.2_Silent_p.G672G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.G708G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	708	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTCCCACATCCTACTTGGC	0.413000													61	95					0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28217588	28217588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28217588C>A	ENST00000377294.2	-	2	691	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZKSCAN4_ENST00000423974.2_5'UTR	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	150					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAGAGCAGTTCTTGCCCCTGG	0.448000													97	33					7.47877e-49	1.08552e-48	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71021810	71021810	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71021810A>C	ENST00000318789.4	-	18	2073	c.1548T>G	c.(1546-1548)aaT>aaG	p.N516K	FOXP1_ENST00000493089.1_Missense_Mutation_p.N515K|FOXP1_ENST00000475937.1_Missense_Mutation_p.N516K|FOXP1_ENST00000498215.1_Missense_Mutation_p.N516K|FOXP1_ENST00000491238.1_Missense_Mutation_p.N518K|FOXP1_ENST00000484350.1_Missense_Mutation_p.N440K|FOXP1_ENST00000468577.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	516					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGACTAAGATTATGACGCA	0.378000			T	PAX5	ALL								15	22					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64001835	64001835	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:64001835T>C	ENST00000392769.2	-	17	1927	c.1709A>G	c.(1708-1710)aAa>aGa	p.K570R	CEP112_ENST00000541355.1_Missense_Mutation_p.K205R|CEP112_ENST00000535342.2_Missense_Mutation_p.K570R|CEP112_ENST00000537949.1_Missense_Mutation_p.K528R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	570						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTATGAATTTTCTTTTGAGT	0.323000													8	16					0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20925288	20925288	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20925288G>A	ENST00000216714.3	+	5	846	c.578G>A	c.(577-579)cGc>cAc	p.R193H	APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|APEX1_ENST00000555414.1_Missense_Mutation_p.R193H|APEX1_ENST00000398030.4_Missense_Mutation_p.R193H|APEX1_ENST00000557365.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	193					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	p.R193H(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCCTTTCGCAAGTTCCTG	0.542000								Other BER factors					18	29					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424408	151424408	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151424408G>A	ENST00000370314.4	-	5	631	c.393C>T	c.(391-393)ggC>ggT	p.G131G	GABRA3_ENST00000535043.1_Silent_p.G131G|GABRA3_ENST00000370311.1_Silent_p.G131G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	131					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTCATGGGGCCATCAAATT	0.428000													27	83					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917394	32917394	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32917394G>A	ENST00000361627.3	+	5	1387	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R222Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	222	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAGAAGCTACGATTACAGGCT	0.358000													28	32					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400485	67400485	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67400485C>T	ENST00000335385.3	-	5	726	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	213					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACTTGAAGTTCTCCTGGGCAT	0.572000													82	140					0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132912	21132912	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21132912T>G	ENST00000601023.1	+	2	2061	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S	ZNF85_ENST00000328178.8_Missense_Mutation_p.I531S|ZNF85_ENST00000345030.6_Missense_Mutation_p.I498S			Q03923	ZNF85_HUMAN	zinc finger protein 85	531						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CATAAGAAAATTCATACTGGA	0.348000													19	23					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125585323	125585323	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125585323T>C	ENST00000259467.4	-	3	491	c.326A>G	c.(325-327)aAa>aGa	p.K109R		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	109					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGGAGGTCTTTCTGTTTCTG	0.507000													58	87					0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56748713	56748713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56748713C>A	ENST00000260453.3	-	3	396	c.232G>T	c.(232-234)Gaa>Taa	p.E78*		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	78	Glu-rich.				meiosis			p.E78*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTCTTGTTTTCTTCTGCCTGA	0.333000													6	28					5.18039e-06	5.75679e-06	1	1	0
MAP3K6	9064	broad.mit.edu	37	1	27683511	27683511	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27683511A>G	ENST00000374040.3	-	23	3589	c.3329T>C	c.(3328-3330)gTg>gCg	p.V1110A	MAP3K6_ENST00000493901.1_Missense_Mutation_p.V1118A|MAP3K6_ENST00000357582.2_Missense_Mutation_p.V1118A			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1118					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGTCCTAGCACACCCAGGGC	0.662000													14	29					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90151704	90151704	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90151704T>G	ENST00000405460.2	+	82	17837	c.17741T>G	c.(17740-17742)tTt>tGt	p.F5914C	GPR98_ENST00000425867.2_Missense_Mutation_p.F1575C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5914					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)		ACTTCTGGATTTATATGTATC	0.363000													16	41					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762646	53762646	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762646C>A	ENST00000341702.3	+	1	1102	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	340					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTATTTAGCTCTCTTCGATAA	0.463000													51	98					6.08268e-21	8.37076e-21	1	1	0
CRYAB	1410	broad.mit.edu	37	11	111779674	111779674	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111779674G>T	ENST00000533475.1	-	4	791	c.342C>A	c.(340-342)atC>atA	p.I114I	CRYAB_ENST00000531198.1_Silent_p.I114I|CRYAB_ENST00000526180.1_Silent_p.I114I|CRYAB_ENST00000525823.1_Silent_p.I47I|CRYAB_ENST00000533280.1_Silent_p.I47I|CRYAB_ENST00000527950.1_Silent_p.I114I|CRYAB_ENST00000227251.3_Silent_p.I114I	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	114					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACTCCCTGGAGATGAAACCAT	0.473000													11	34					0.0692343	0.0701576	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47364690	47364690	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47364690G>T	ENST00000399249.2	-	14	1287	c.1233C>A	c.(1231-1233)atC>atA	p.I411I	MYBPC3_ENST00000545968.1_Silent_p.I411I|MYBPC3_ENST00000256993.4_Silent_p.I410I			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	410	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGACTCAAAGATGTACCTGG	0.642000													8	17					0.00307968	0.00320271	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31617807	31617807	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617807C>A	ENST00000409210.1	+	6	837	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.S310Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S336Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	310										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCATTTGTCTCTGTCAGTA	0.453000													23	14					3.8784e-16	5.13982e-16	1	1	0
MYH2	4620	broad.mit.edu	37	17	10427885	10427885	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10427885G>A	ENST00000245503.5	-	35	5457	c.5073C>T	c.(5071-5073)atC>atT	p.I1691I	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1691I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1691					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGCTCCTCGATCTCAGCCT	0.592000													26	58					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56730415	56730415	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56730415A>G	ENST00000381295.2	+	4	626	c.278A>G	c.(277-279)cAc>cGc	p.H93R	EXOC1_ENST00000346134.7_Missense_Mutation_p.H93R|EXOC1_ENST00000349598.6_Missense_Mutation_p.H93R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	93					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATTTACACTTTGAAAAA	0.289000													7	7					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14666087	14666087	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14666087G>T	ENST00000282096.4	+	1	819	c.466G>T	c.(466-468)Gcg>Tcg	p.A156S	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.A156S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	156					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGCTGCTGGCGCTGCCCGC	0.701000													9	19					3.09899e-07	3.54467e-07	1	1	0
SNCG	6623	broad.mit.edu	37	10	88719763	88719763	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88719763G>A	ENST00000372017.3	+	3	211	c.169G>A	c.(169-171)Gag>Aag	p.E57K	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R74Q	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	57	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						CATAGTGGCCGAGAAGACCAA	0.667000													7	9					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82564263	82564263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82564263G>A	ENST00000313010.3	-	3	561	c.367C>T	c.(367-369)Cga>Tga	p.R123*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.R18*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.R144*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	123					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCATAGTATCGATGTTCAGCA	0.363000													8	26					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73161417	73161417	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73161417T>C	ENST00000286657.4	-	19	2713	c.2677A>G	c.(2677-2679)Aaa>Gaa	p.K893E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	893	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAATAGGTTTCGGCTTTTTG	0.393000													8	51					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42273340	42273340	+	Silent	SNP	T	T	G	rs142090611	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42273340T>G	ENST00000361204.4	+	8	1660	c.1494T>G	c.(1492-1494)acT>acG	p.T498T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	498					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACCCCCTGACTTCCCTGCTGC	0.617000													8	91					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53783418	53783418	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53783418C>A	ENST00000288139.3	+	28	3616	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I	CACNA1D_ENST00000540742.1_Silent_p.I53I|CACNA1D_ENST00000422281.2_Silent_p.I1146I|CACNA1D_ENST00000350061.5_Silent_p.I1146I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1146					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGATGAACATCTTTGTGGGCT	0.413000													12	65					1.08611e-07	1.25818e-07	1	1	0
MYH6	4624	broad.mit.edu	37	14	23874928	23874928	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23874928C>T	ENST00000405093.3	-	4	323	c.253G>A	c.(253-255)Gac>Aac	p.D85N	MYH6_ENST00000356287.3_Missense_Mutation_p.D85N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	85	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAATCTTGTCGAACTTGGGT	0.582000													33	74					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21828672	21828672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21828672G>A	ENST00000216297.2	-	18	2415	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	693					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTGTCTCCTCGAACAGATGTG	0.408000													20	46					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805272	115805272	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115805272C>A	ENST00000374227.3	-	4	1653	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E557D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E543D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATACGGTTTCTCTCCAGTAT	0.398000													18	30					1.02788e-11	1.28326e-11	1	1	0
TXN	7295	broad.mit.edu	37	9	113013138	113013138	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113013138T>C	ENST00000374517.5	-	3	355	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TXN_ENST00000374515.5_Intron	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	51	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AATATCACGTTGGAATACTTT	0.363000													6	31					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134880997	134880997	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:134880997G>A	ENST00000398015.3	+	7	1930	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	EPHB1_ENST00000493838.1_Silent_p.K81K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	520	Fibronectin type-III 2.					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						TCAGTGGCAAGATGTGCTTCC	0.567000													24	51					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45535797	45535797	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45535797C>T	ENST00000361462.2	+	17	4759	c.4576C>T	c.(4576-4578)Cgt>Tgt	p.R1526C	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1473C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1473							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACTGAAGTTCGTGAAGTCAC	0.323000													16	31					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109815829	109815829	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109815829T>G	ENST00000271332.3	+	32	8441	c.8380T>G	c.(8380-8382)Ttt>Gtt	p.F2794V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2794					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCAGGAGACTTTGGGACCAC	0.652000													4	70					0	0	1	0	0
RP1-274L7.1	0	broad.mit.edu	37	X	129629094	129629094	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129629094G>T	ENST00000458525.1	-	0	1093				FAM45B_ENST00000592932.1_RNA																							GGGAAGGAAAGAAAATTACCT	0.562000													9	16					1.12685e-05	1.24509e-05	1	1	0
USH2A	7399	broad.mit.edu	37	1	215820898	215820898	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215820898A>C	ENST00000366943.2	-	67	15143	c.14757T>G	c.(14755-14757)gcT>gcG	p.A4919A	USH2A_ENST00000307340.3_Silent_p.A4919A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCACTCGGAAGCCGTACTGC	0.547000										HNSCC(13;0.011)			4	56					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99667807	99667807	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99667807C>A	ENST00000448493.2	-	1	166	c.56G>T	c.(55-57)aGa>aTa	p.R19I	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCACAGTTTCTTTCAAAAAC	0.398000													11	20					3.07112e-06	3.42433e-06	1	1	0
WNT8B	7479	broad.mit.edu	37	10	102242045	102242045	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102242045G>T	ENST00000343737.5	+	6	656	c.528G>T	c.(526-528)atG>atT	p.M176I		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	176					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGGGCACCATGAAACGCACGT	0.637000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	19					1.02788e-11	1.28326e-11	1	1	0
LYL1	4066	broad.mit.edu	37	19	13211649	13211649	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13211649A>G	ENST00000264824.4	-	2	696		c.e2+1			NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1						B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			ATCCCCACTGACCTGTTGAGG	0.652000			T	TRB@	T-ALL								8	7					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67199467	67199467	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67199467C>A	ENST00000371037.4	+	21	2012	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	SGIP1_ENST00000371035.3_Missense_Mutation_p.F435L|SGIP1_ENST00000371036.3_Missense_Mutation_p.F447L|SGIP1_ENST00000371039.1_Missense_Mutation_p.F448L|SGIP1_ENST00000237247.6_Missense_Mutation_p.F676L|SGIP1_ENST00000435165.2_Missense_Mutation_p.F150L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	645					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCAAGGAATTCTGGGTAAACA	0.348000													21	36					3.62473e-10	4.42315e-10	1	1	0
ZNF319	0	broad.mit.edu	37	16	58031930	58031930	+	Silent	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58031930C>G	ENST00000299237.2	-	2	862	c.240G>C	c.(238-240)gtG>gtC	p.V80V		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGTGACCACACACGCCACATT	0.642000													24	41					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82764037	82764037	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82764037C>A	ENST00000373200.2	+	1	769	c.705C>A	c.(703-705)ttC>ttA	p.F235L	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	235	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCTGCAGGTTCGAAGGCTTGC	0.562000													25	51					2.47511e-08	2.91589e-08	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61987061	61987061	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987061G>A	ENST00000409186.1	-	5	3276	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	PCDH20_ENST00000409204.4_Silent_p.L391L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	364	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGACTCCAGAACACTTCCT	0.423000													41	72					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142154302	142154302	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142154302G>T	ENST00000519811.1	+	5	749	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	DENND3_ENST00000424248.1_Missense_Mutation_p.D147Y|DENND3_ENST00000262585.2_Missense_Mutation_p.D147Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	147	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATATAAAAGATTTCGCTGC	0.373000													5	21					0.014758	0.015099	1	1	0
MYO1F	4542	broad.mit.edu	37	19	8612994	8612994	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8612994C>T	ENST00000338257.8	-	12	1462	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	399	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAAAACTGCTCGAAGCCATTT	0.547000													94	117					0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124262	10124262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10124262G>T	ENST00000304361.4	+	1	249	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E33*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E23*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E23*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	23						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAAAATCCCAGAAATTGGCAA	0.323000													15	26					2.23348e-06	2.50077e-06	1	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47287219	47287219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:47287219G>T	ENST00000337137.4	+	6	932	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	256	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AAAACAAAAAGAATATTTTGC	0.398000													14	26					4.7546e-09	5.67505e-09	1	1	0
DENND5B	160518	broad.mit.edu	37	12	31579260	31579260	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:31579260G>A	ENST00000389082.5	-	9	2469	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	DENND5B_ENST00000536562.1_Silent_p.F770F|DENND5B_ENST00000306833.6_Silent_p.F770F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	735						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCCTTCTACGAATTTACAGT	0.398000													7	11					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9829665	9829665	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9829665A>G	ENST00000256190.8	-	32	4462	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1442	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTCTTTTTCAACCAACATCTG	0.453000													9	20					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705768	65705768	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:65705768A>G	ENST00000304842.5	+	2	781	c.356A>G	c.(355-357)aAa>aGa	p.K119R	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	119					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGTCAAGTAAAGAGAAGATC	0.522000													25	41					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180334346	180334346	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334346T>C	ENST00000442201.2	-	18	2663	c.2544A>G	c.(2542-2544)gaA>gaG	p.E848E	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	848					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTCAGTATTTTCTTCTATGA	0.284000													4	14					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975941	44975941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975941C>A	ENST00000340446.4	-	1	541	c.250G>T	c.(250-252)Gaa>Taa	p.E84*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	84						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AACTTGACTTCTTTTTTCTCT	0.408000													46	105					1.41504e-22	1.969e-22	1	1	0
ZNF510	22869	broad.mit.edu	37	9	99521061	99521061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99521061C>T	ENST00000375231.1	-	6	2701	c.2051G>A	c.(2050-2052)tGa>tAa	p.*684*	ZNF510_ENST00000223428.4_Silent_p.*684*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTATTACATCAATAGGGATT	0.358000													7	29					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940100	113940100	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113940100G>A	ENST00000245796.6	+	2	262	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PSD4_ENST00000441564.2_Missense_Mutation_p.D23N|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	23					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTACTTGGGAGACAGCCTGGA	0.607000													22	52					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19203720	19203720	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19203720G>A	ENST00000263200.10	-	19	3038	c.2966C>T	c.(2965-2967)tCg>tTg	p.S989L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S989L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S989L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	989	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GACAGTGACCGAAATCTCTTC	0.423000			T	?	ALCL								25	28					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66200576	66200576	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:66200576C>T	ENST00000503581.1	-	5	1310	c.773G>A	c.(772-774)gGc>gAc	p.G258D	EYS_ENST00000370616.2_Missense_Mutation_p.G258D|EYS_ENST00000370618.3_Missense_Mutation_p.G258D|EYS_ENST00000370621.3_Missense_Mutation_p.G258D|EYS_ENST00000342421.5_Missense_Mutation_p.G258D|EYS_ENST00000393380.2_Missense_Mutation_p.G258D	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	258	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGACACTGGCCAATTATTTC	0.303000													5	22					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605304	13605304	+	Missense_Mutation	SNP	G	G	A	rs73231582	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605304G>A	ENST00000040738.5	-	10	3355	c.3220C>T	c.(3220-3222)Cgg>Tgg	p.R1074W		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1074							DNA binding										CTTCCTCTCCGATTTTCGCAC	0.418000													16	39					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629400	17629400	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:17629400C>T	ENST00000262077.2	-	18	3029	c.3030G>A	c.(3028-3030)aaG>aaA	p.K1010K	NUP153_ENST00000537253.1_Silent_p.K1041K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1010					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCCTCTTTCTTTTCTTCCT	0.403000													10	44					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958138	49958138	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49958138C>A	ENST00000376056.2	-	5	1349	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.R400I|AKAP4_ENST00000358526.2_Missense_Mutation_p.R409I|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	409					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAACAGATTTCTCTTGACAGC	0.448000													18	49					6.49762e-13	8.24929e-13	1	1	0
GBP2	2634	broad.mit.edu	37	1	89585912	89585912	+	Silent	SNP	G	G	A	rs148121752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89585912G>A	ENST00000370466.3	-	4	646	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	126					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TATTGTACACGAAGGTGCTGC	0.458000													29	69					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124824652	124824652	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124824652G>T	ENST00000529051.1	+	2	283	c.24G>T	c.(22-24)aaG>aaT	p.K8N	CCDC15_ENST00000344762.5_Missense_Mutation_p.K8N			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	8						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGGCCCGAAAGAAACCTCGAA	0.463000													56	94					5.2118e-15	6.84239e-15	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32561892	32561892	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32561892G>A	ENST00000345122.3	+	2	2332	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E673K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	673					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTTATTGGGGAATTTATTGG	0.358000													21	50					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285114	223285114	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223285114C>A	ENST00000540964.1	-	4	1721	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	TLR5_ENST00000342210.6_Missense_Mutation_p.K420N			O60602	TLR5_HUMAN	toll-like receptor 5	420			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAAGGTTGATCTTTGGCAAAG	0.408000													29	62					1.2476e-16	1.66396e-16	1	1	0
JAZF1	221895	broad.mit.edu	37	7	27935032	27935032	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27935032G>T	ENST00000283928.5	-	3	357	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	64					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CATCTGTCATGAATCTGAAAC	0.483000			T	SUZ12	endometrial stromal tumours								17	43					4.14922e-12	5.21015e-12	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964999	88964999	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964999G>T	ENST00000333190.4	+	4	3312	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	901						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCTTCTAAAGAACTGTTCCA	0.463000										HNSCC(36;0.09)			36	104					3.62531e-18	4.89791e-18	1	1	0
CSTF2	1478	broad.mit.edu	37	X	100088308	100088308	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100088308G>A	ENST00000415585.2	+	12	1429	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	CSTF2_ENST00000372972.2_Silent_p.A449A|CSTF2_ENST00000486615.1_Intron			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	449	12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGGCCCGAGCGATGGAGGCCC	0.622000													9	15					0	0	1	0	0
BTN3A1	0	broad.mit.edu	37	6	26413752	26413752	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26413752G>T	ENST00000289361.6	+	10	1742	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K406N	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	458	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGCCCCCTAAGAAAGTGGGGG	0.478000													71	39					3.28615e-30	4.69343e-30	1	1	0
APOL5	80831	broad.mit.edu	37	22	36122895	36122895	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36122895G>T	ENST00000249044.2	+	3	780	c.780G>T	c.(778-780)aaG>aaT	p.K260N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	260					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTATGGTCAAGAATTTTGTGG	0.498000													10	166					0.000442599	0.00046913	1	1	0
RENBP	5973	broad.mit.edu	37	X	153207461	153207461	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153207461C>A	ENST00000393700.3	-	7	791	c.711G>T	c.(709-711)gaG>gaT	p.E237D	RENBP_ENST00000369997.3_Missense_Mutation_p.E223D|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	237					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CTGACACATTCTCCAGCACAG	0.627000													53	94					4.88482e-21	6.72725e-21	1	1	0
TSC1	0	broad.mit.edu	37	9	135796771	135796771	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135796771T>C	ENST00000298552.3	-	8	937	c.716A>G	c.(715-717)gAc>gGc	p.D239G	TSC1_ENST00000545250.1_Missense_Mutation_p.D188G|TSC1_ENST00000440111.2_Missense_Mutation_p.D239G|TSC1_ENST00000403810.1_Missense_Mutation_p.D239G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	239					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)		CAGTTCATGGTCCTTGGATCC	0.408000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				16	22					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230670526	230670526	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230670526G>T	ENST00000389045.3	-	15	1607	c.1535C>A	c.(1534-1536)tCt>tAt	p.S512Y	TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389044.4_Intron|TRIP12_ENST00000543084.1_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGCTGCATAGAATTAAAATC	0.428000													4	13					0.00909568	0.00935351	1	1	0
KIF1A	547	broad.mit.edu	37	2	241661294	241661294	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241661294C>T	ENST00000498729.2	-	44	4919	c.4673G>A	c.(4672-4674)cGc>cAc	p.R1558H	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1457H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1457					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGTGAGCAGGCGCAAGCACTG	0.647000													11	18					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935896	151935896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151935896C>A	ENST00000393902.3	-	3	838	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E91*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	91										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTCTTCTTGGTTGCTG	0.567000													49	88					7.34454e-26	1.03635e-25	1	1	0
RHBDL2	54933	broad.mit.edu	37	1	39358897	39358897	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39358897C>A	ENST00000289248.2	-	6	1618		c.e6-1		RHBDL2_ENST00000538156.1_Splice_Site|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Splice_Site|RHBDL2_ENST00000372990.1_Splice_Site			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTGAAAATTCTTAAAAAGAG	0.323000													7	21					0.00198382	0.00207034	1	1	0
FAM107B	83641	broad.mit.edu	37	10	14816376	14816376	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14816376C>T	ENST00000181796.2	-	1	520	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGCCGCAGTGCGGTGACTTGA	0.592000													68	144					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676264	54676264	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54676264G>A	ENST00000474759.1	+	11	1211	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R294Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R388Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R388Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	388	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGCCAGATCGAAAGGTAAGT	0.463000													4	8					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469702	52469702	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52469702C>T	ENST00000231721.2	-	16	2265	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	756					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCAGCCCTGCCCAGCTCTTG	0.672000													9	118					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26696426	26696426	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26696426C>T	ENST00000226218.4	-	4	1171	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	185	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.E185K(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ACTGCCTTTTCGTCCAGTTCA	0.607000													32	69					0	0	1	0	0
CHEK2P2	0	broad.mit.edu	37	15	20496806	20496806	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:20496806A>G	ENST00000555186.1	+	0	859					NR_038836.1																						TTTCACAGTCACTGATGTACA	0.318000													3	13					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86465162	86465162	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:86465162T>G	ENST00000297814.2	-	16	3551	c.3408A>C	c.(3406-3408)gaA>gaC	p.E1136D	RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1070D|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1039D|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1136					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCATTTTCATTTCTTCATTAT	0.383000													14	46					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7768987	7768987	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7768987G>T	ENST00000358415.4	+	10	1225	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q342H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	353	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTCAACCAGAACATTCGAA	0.398000													20	37					1.00905e-13	1.29777e-13	1	1	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760240	119760240	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119760240T>C	ENST00000304661.5	-	2	1020	c.782A>G	c.(781-783)tAt>tGt	p.Y261C	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.Y261C	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	261						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GTTGGGGTGATAAGTCATTGC	0.383000													24	59					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28414099	28414099	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28414099C>T	ENST00000394835.3	+	19	3790	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1076C|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1200							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTATGTTTTACGCAACATGAT	0.393000													17	40					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105860899	105860899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105860899G>A	ENST00000447393.1	+	24	2747	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	PACS2_ENST00000430725.2_Missense_Mutation_p.D779N|PACS2_ENST00000458164.2_Missense_Mutation_p.D869N|PACS2_ENST00000551743.1_Missense_Mutation_p.D368N|PACS2_ENST00000551801.1_Missense_Mutation_p.D55N|PACS2_ENST00000547217.1_Missense_Mutation_p.D824N|PACS2_ENST00000325438.8_Missense_Mutation_p.D854N	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	854					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTCCTCATCGACGGCGTGGA	0.677000													25	59					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70149248G>A	ENST00000550536.1	+	2	565	c.108G>A	c.(106-108)ccG>ccA	p.P36P	RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	36					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443000													22	43					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15710987	15710987	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15710987A>G	ENST00000396368.3	-	15	3205	c.2999T>C	c.(2998-3000)gTg>gCg	p.V1000A	KIAA0430_ENST00000540441.2_Missense_Mutation_p.V835A|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1000A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000344181.3_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	999						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGAAAGAATCACAAAAGGAAT	0.453000													12	69					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052094	48052094	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48052094C>T	ENST00000316364.5	+	2	538	c.99C>T	c.(97-99)gtC>gtT	p.V33V	SEMA6D_ENST00000389433.2_Silent_p.V33V|SEMA6D_ENST00000537942.1_Silent_p.V33V|SEMA6D_ENST00000358066.4_Silent_p.V33V|SEMA6D_ENST00000536845.2_Silent_p.V33V|SEMA6D_ENST00000389432.2_Silent_p.V33V|SEMA6D_ENST00000354744.4_Silent_p.V33V|SEMA6D_ENST00000355997.3_Silent_p.V33V|SEMA6D_ENST00000558014.1_Silent_p.V33V|SEMA6D_ENST00000389428.3_Silent_p.V33V|SEMA6D_ENST00000558816.1_Silent_p.V33V|SEMA6D_ENST00000389425.3_Silent_p.V33V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	33	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTAATACTGTCGACTATCACT	0.438000													14	22					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862509	5862509	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5862509G>T	ENST00000329322.5	-	1	618	c.619C>A	c.(619-621)Ctc>Atc	p.L207I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L211I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAACAAGAGAGAAATACTG	0.473000													20	44					2.4624e-09	2.95225e-09	1	1	0
NKRF	55922	broad.mit.edu	37	X	118724345	118724345	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724345T>C	ENST00000371527.1	-	2	1695	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	NKRF_ENST00000542113.1_Missense_Mutation_p.D363G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.D348G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	348					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ACCAATTGCATCATTTGCATT	0.408000													25	89					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240635744	240635744	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240635744C>T	ENST00000319653.9	+	17	5363	c.5133C>T	c.(5131-5133)gaC>gaT	p.D1711D	FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Silent_p.D31D|FMN2_ENST00000545751.1_Silent_p.D307D|AL646016.1_ENST00000596886.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1711					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAGACATGACTCTGGAATTG	0.274000													5	28					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418000													31	36					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505465	57505465	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57505465C>T	ENST00000278422.4	+	3	343	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	111					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTTGGATATTCGCATGGGCCT	0.393000													40	61					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085512	152085512	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152085512G>T	ENST00000368804.1	-	2	180	c.181C>A	c.(181-183)Ctg>Atg	p.L61M		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	61	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGATCCAGAAGTTCCAGG	0.408000													16	24					2.23348e-06	2.50077e-06	1	1	0
BMPR2	659	broad.mit.edu	37	2	203379620	203379620	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203379620A>G	ENST00000374580.4	+	5	1078	c.539A>G	c.(538-540)aAa>aGa	p.K180R	BMPR2_ENST00000374574.2_Missense_Mutation_p.K180R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	180					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGAGACCGTAAACAAGGTCTT	0.343000													15	21					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798916	5798916	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5798916A>C	ENST00000317093.2	-	1	981	c.949T>G	c.(949-951)Ttc>Gtc	p.F317V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCACCCTGGAAGAACTTTATG	0.348000													7	49					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913198	87913198	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87913198G>A	ENST00000380079.4	-	2	488	c.387C>T	c.(385-387)caC>caT	p.H129H	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Silent_p.H129H|STEAP4_ENST00000414498.1_Silent_p.H129H|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	129					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTTTACCACGTGGGCTCCTG	0.423000													25	74					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736267	56736267	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56736267A>C	ENST00000587340.1	-	4	844	c.149T>G	c.(148-150)tTc>tGc	p.F50C	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F50C			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	50	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGCAGCTGAACATCCTGAA	0.557000													27	50					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029577	49029577	+	Silent	SNP	C	C	T	rs149039155		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49029577C>T	ENST00000376327.5	+	2	273	c.198C>T	c.(196-198)gtC>gtT	p.V66V	PLP2_ENST00000376322.3_Silent_p.V66V	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	66	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TCTTTGTTGTCTACATGTGTG	0.512000													15	34					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96858113	96858113	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96858113A>G	ENST00000337288.5	-	6	1220	c.837T>C	c.(835-837)ttT>ttC	p.F279F	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	279	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TCACCTCATCAAATGACTTGT	0.488000													40	75					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37586751	37586751	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37586751A>C	ENST00000338415.3	+	3	454	c.296A>C	c.(295-297)cAg>cCg	p.Q99P	QPCT_ENST00000537448.1_Missense_Mutation_p.Q50P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	99					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGAGGCTTCAGGCTGACTGG	0.398000													19	29					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576017	12576017	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12576017C>T	ENST00000397732.3	-	4	890	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R240Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGATTTCGAAAAGAACT	0.383000													23	39					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96555127	96555127	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96555127A>C	ENST00000376747.3	-	21	2553	c.2483T>G	c.(2482-2484)aTt>aGt	p.I828S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	828					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GAATGTTTTAATTTTATCTCC	0.318000													19	40					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35860991	35860991	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35860991C>T	ENST00000303115.3	+	2	249	c.120C>T	c.(118-120)ttC>ttT	p.F40F	IL7R_ENST00000343305.4_Silent_p.F40F|IL7R_ENST00000511982.1_Silent_p.F40F|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.F40F	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	40					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)			ACTACTCATTCTCATGCTATA	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						19	94					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19947913	19947913	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19947913C>A	ENST00000379687.3	-	10	2042	c.2009G>T	c.(2008-2010)aGa>aTa	p.R670I	CXorf23_ENST00000466702.1_5'UTR|CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379682.4_Missense_Mutation_p.R699I	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	699						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CTTCTTTTTTCTCATTAATCT	0.323000													37	72					3.6622e-26	5.17531e-26	1	1	0
ZDHHC3	51304	broad.mit.edu	37	3	44986746	44986746	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44986746G>A	ENST00000296127.3	-	3	618	c.345C>T	c.(343-345)atC>atT	p.I115I	ZDHHC3_ENST00000342790.4_Silent_p.I149I|ZDHHC3_ENST00000424952.2_Silent_p.I115I	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	115						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GTAAACTCTCGATGAATTCTT	0.527000													53	79					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48385443	48385443	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48385443T>C	ENST00000222002.3	-	3	509	c.370A>G	c.(370-372)Aga>Gga	p.R124G		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	124					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AAAACATCTCTGGGATTTCTC	0.328000													9	65					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118705682	118705682	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118705682C>T	ENST00000376300.2	-	15	1360	c.1224_splice	c.e15+1	p.R408_splice	CCDC93_ENST00000319432.5_Splice_Site_p.R407_splice	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	408								p.R408L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AACACTTACTCGACAATGTGC	0.398000													70	124					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809140	5809140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5809140G>A	ENST00000317078.1	-	1	906	c.907C>T	c.(907-909)Cga>Tga	p.R303*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACTTTCTCGTACCTGCCTG	0.388000													54	87					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978130	71978130	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71978130C>T	ENST00000266674.5	+	18	2651	c.2340C>T	c.(2338-2340)tgC>tgT	p.C780C	LGR5_ENST00000540815.2_Silent_p.C756C|LGR5_ENST00000536515.1_Silent_p.C708C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	780						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTAAACTGCCCTGTGGCTT	0.428000													37	86					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019917	111019917	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019917A>T	ENST00000262839.2	-	11	3464	c.2546T>A	c.(2545-2547)tTc>tAc	p.F849Y		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	849					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						AAATTTGGAGAATAGGAGACC	0.458000													47	81					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69076874	69076874	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69076874C>T	ENST00000465139.2	-	4	531	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ANP32A_ENST00000560303.1_Missense_Mutation_p.D130N|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	130	LRRCT.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCTCGGTAGTCGTTCAGGTTG	0.483000													36	48					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112893786	112893786	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112893786A>C	ENST00000351677.2	+	6	873	c.675A>C	c.(673-675)gaA>gaC	p.E225D	PTPN11_ENST00000392597.1_Missense_Mutation_p.E225D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	225					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGCTGCTGAAATAGAAAGCA	0.348000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				19	26					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79951425	79951425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79951425C>A	ENST00000373275.4	-	27	3349	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1045										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAGTTCCTTTCTTTGGCTTCA	0.308000													6	15					0.00198382	0.00207034	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66903902	66903902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66903902C>A	ENST00000269080.2	-	16	2274	c.2137G>T	c.(2137-2139)Gaa>Taa	p.E713*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E753*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E753*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	713						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)					TTTGTTCTTTCTAAGGGTAAT	0.303000													6	9					3.59834e-05	3.93264e-05	1	1	0
THBS2	7058	broad.mit.edu	37	6	169629697	169629697	+	Silent	SNP	G	G	A	rs148360643	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:169629697G>A	ENST00000366787.3	-	15	2478	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	743					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATTGTCATCGTCATCATCAC	0.547000													32	64					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	424189	424189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:424189G>T	ENST00000256509.2	+	18	2653	c.2011G>T	c.(2011-2013)Gag>Tag	p.E671*	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Nonsense_Mutation_p.E655*	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	655	Fibronectin type-III 1.				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)		AAACAAAGAAGAGCCTGGAAG	0.373000													30	86					1.30988e-24	1.84044e-24	1	1	0
ZAN	7455	broad.mit.edu	37	7	100349380	100349380	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100349380C>A	ENST00000542585.1	+	0	1800				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_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)			GTTTCTTCCACTGGCCCTTCT	0.463000													6	48					2.0095e-06	2.25447e-06	1	1	0
KHK	3795	broad.mit.edu	37	2	27315234	27315234	+	Missense_Mutation	SNP	G	G	A	rs104893644		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27315234G>A	ENST00000260599.6	+	2	640	c.127G>A	c.(127-129)Gcg>Acg	p.A43T	KHK_ENST00000260598.5_Missense_Mutation_p.A43T|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	43			A -> T (in FRUCT).		fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGCAACGCGTCCAACTC	0.612000													25	37					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31526864	31526864	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31526864T>C	ENST00000380473.3	+	3	227	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	72																	TCAGACACAATATAGTGATGA	0.343000													25	31					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8406109	8406109	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8406109T>G	ENST00000332175.8	+	31	5345	c.4308T>G	c.(4306-4308)gaT>gaG	p.D1436E	PTPRM_ENST00000400053.4_Missense_Mutation_p.D1374E|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1450E|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1223E|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1449E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1436	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTTCCAGGATCAGTACAAGT	0.443000													14	31					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641078	122641078	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:122641078G>A	ENST00000303924.4	-	2	1040	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	168						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TACGTGTTGCGAGCTTTCTTT	0.448000													59	124					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119165904	119165904	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119165904C>T	ENST00000319172.5	-	5	956	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	179						integral to membrane		p.R179Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGAATGGCTTCGAAAGAGATT	0.418000													20	30					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533543	155533543	+	Splice_Site	SNP	G	G	A	rs141554929		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155533543G>A	ENST00000404648.3	-	2	362	c.123_splice	c.e2+1	p.F41_splice	FGG_ENST00000336098.3_Splice_Site_p.F41_splice|FGG_ENST00000407946.1_Splice_Site_p.F41_splice|FGG_ENST00000405164.1_Splice_Site_p.F41_splice	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	41					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AACTACTTACGAATCTTTCAT	0.338000													11	145					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66206168	66206168	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66206168G>A	ENST00000409699.2	-	20	2789	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MEGF11_ENST00000422354.1_Missense_Mutation_p.R873W|MEGF11_ENST00000288745.3_Missense_Mutation_p.R798W|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395614.1_Missense_Mutation_p.R46W|MEGF11_ENST00000395625.2_Missense_Mutation_p.R798W			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	873						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCCGCCGCCGATGCCAGGCA	0.612000													12	46					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671063	28671063	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28671063C>T	ENST00000280904.6	-	4	845	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DSC2_ENST00000251081.6_Silent_p.K134K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	134					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCATCTTCTCTTGGCGCGCC	0.388000													17	41					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007016	94007016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94007016G>T	ENST00000553484.1	+	13	1517	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.E455*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E278*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E455*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	455						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						CTTGTTGAAAGAAGCCGAGTT	0.498000													21	43					8.04996e-18	1.08523e-17	1	1	0
OR8B2	26595	broad.mit.edu	37	11	124253032	124253032	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124253032C>A	ENST00000375013.2	-	1	226	c.208G>T	c.(208-210)Gat>Tat	p.D70Y		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAACAGAGATCAATGAAGGAG	0.403000													35	104					4.62619e-21	6.37263e-21	1	1	0
SPATA9	83890	broad.mit.edu	37	5	95018287	95018287	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95018287A>G	ENST00000274432.8	-	2	236	c.95T>C	c.(94-96)gTa>gCa	p.V32A	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.V32A|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	32					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AAACTCATCTACAAGGTCCAT	0.318000													13	26					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84859327	84859327	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84859327G>T	ENST00000403245.3	-	24	3839	c.3725C>A	c.(3724-3726)tCt>tAt	p.S1242Y	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1242					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.S1242Y(1)		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)		TTTGGAAGAAGAATTTTCTAC	0.363000													17	29					0.000422831	0.000449533	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141325152	141325152	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141325152G>T	ENST00000231484.3	-	4	4559	c.3349C>A	c.(3349-3351)Ctg>Atg	p.L1117M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1117					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATCTCCAGCAGTGAGCTC	0.647000													29	38					3.00307e-07	3.44266e-07	1	1	0
USP34	9736	broad.mit.edu	37	2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61415812G>A	ENST00000398571.2	-	80	10142	c.10066C>T	c.(10066-10068)Cgt>Tgt	p.R3356C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3356					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478000													21	20					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80377718	80377718	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80377718G>A	ENST00000337014.6	+	2	517	c.43G>A	c.(43-45)Gac>Aac	p.D15N	HEXDC_ENST00000327949.9_Missense_Mutation_p.D15N|HEXDC_ENST00000577944.1_Missense_Mutation_p.D15N	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	15					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGTTCATTTAGACCTTAAAGG	0.433000													8	36					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544715	73544715	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73544715A>G	ENST00000224721.6	+	42	5590	c.5585A>G	c.(5584-5586)aAc>aGc	p.N1862S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1857	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCCCATGAACATCACCATC	0.597000													27	62					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19751728	19751728	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19751728C>T	ENST00000332710.4	+	5	692	c.563C>T	c.(562-564)gCc>gTc	p.A188V	TBX1_ENST00000359500.3_Missense_Mutation_p.A188V|TBX1_ENST00000329705.7_Missense_Mutation_p.A188V	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	188					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGACCCTGCCACGCCAGGC	0.662000													25	54					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363943	40363943	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40363943T>C	ENST00000221347.6	-	31	14706	c.14699A>G	c.(14698-14700)gAg>gGg	p.E4900G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4900	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCATTCTTCTCAAGCACGAT	0.587000													31	53					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151093031C>T	ENST00000370340.3	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567000													67	142					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844235	77844235	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77844235T>C	ENST00000216471.4	+	1	760	c.474T>C	c.(472-474)gaT>gaC	p.D158D	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	158										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAAACAGATCCAGATCCAG	0.488000													80	125					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163651	84163651	+	Silent	SNP	C	C	T	rs148654230	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483000													35	55					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136102	12136102	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12136102T>C	ENST00000263035.4	+	7	1252	c.1190T>C	c.(1189-1191)gTc>gCc	p.V397A	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	397					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATCATCCATGTCAATGGAGAC	0.517000													21	91					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160651093	160651093	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160651093G>A	ENST00000368046.3	-	3	638	c.551C>T	c.(550-552)aCc>aTc	p.T184I	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	184	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGCATAAGGGTGGTTTCAAG	0.498000													36	87					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	rs141179774	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637000													24	41					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100387279	100387279	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100387279C>A	ENST00000372927.1	+	13	1665	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CENPI_ENST00000218507.5_Missense_Mutation_p.P463H|CENPI_ENST00000423383.1_Missense_Mutation_p.P463H|CENPI_ENST00000372926.1_Missense_Mutation_p.P463H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	463					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGCTGGATTCCTTTTAGTAGC	0.388000													49	88					1.67753e-36	2.4137e-36	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113275275	113275275	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113275275G>T	ENST00000401783.2	-	5	1570	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	SVEP1_ENST00000302728.8_Missense_Mutation_p.L412I|SVEP1_ENST00000374461.1_Missense_Mutation_p.L389I|SVEP1_ENST00000374469.1_Missense_Mutation_p.L389I|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	412	Sushi 1.				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						CTTCCCACAAGATCAAATCCA	0.468000													20	42					2.4624e-09	2.95225e-09	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77473298	77473298	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77473298G>T	ENST00000560626.2	-	4	1446	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.S324Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S324Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	324	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGAGACCACAGAATTTTCCTC	0.443000													25	34					5.35356e-11	6.62625e-11	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48594949	48594949	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48594949G>A	ENST00000396577.3	+	27	3382	c.3167G>A	c.(3166-3168)aGc>aAc	p.S1056N	SLC12A1_ENST00000380993.3_Missense_Mutation_p.S1056N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.S1056N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1056					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTCATTAGGAGCCTTCCCGTG	0.388000													13	30					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829497	72829497	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72829497C>T	ENST00000268489.5	-	9	7756	c.7084G>A	c.(7084-7086)Gac>Aac	p.D2362N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1448N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2362					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGGCTGTCGTCCTGCCCC	0.532000													50	74					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	158					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607000													42	113					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100189343	100189343	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:100189343G>A	ENST00000325103.6	-	10	1157	c.924C>T	c.(922-924)ggC>ggT	p.G308G	HPS1_ENST00000361490.4_Silent_p.G308G|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.G308G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	308					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTCTGATCGCCAGGGGAAG	0.587000									Hermansky-Pudlak syndrome				12	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103954	168103954	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103954C>A	ENST00000409195.1	+	9	6141	c.6052C>A	c.(6052-6054)Ctt>Att	p.L2018I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018I|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1843					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						TGAGGTTAATCTTCCAAAAGC	0.438000													18	35					2.35188e-11	2.92451e-11	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922007	24922007	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:24922007G>A	ENST00000329468.2	+	1	1467	c.993G>A	c.(991-993)tcG>tcA	p.S331S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGAAAATGTCGATTCCATTGC	0.587000													27	51					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111541793	111541793	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111541793G>A	ENST00000428084.1	-	14	1529	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	DOCK4_ENST00000437633.1_Silent_p.S419S|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	419	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTGGCCACGCTCTTCCCTC	0.363000													8	25					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166405	61166405	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61166405G>A	ENST00000382771.4	+	6	912	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	207					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTCTGTATGGGAAACATTGAC	0.408000													31	43					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6262312	6262312	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6262312T>C	ENST00000252674.7	-	3	366	c.203A>G	c.(202-204)gAg>gGg	p.E68G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	68	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTAGGGGGGCTCCTTGCACAC	0.567000			T	MLL	AL								16	37					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203653775	203653775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203653775C>A	ENST00000392237.2	-	12	1178	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.E341*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	341										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAAAATCTTCTCCTTCCAAT	0.368000													15	55					2.32078e-09	2.7896e-09	1	1	0
SCYL2	55681	broad.mit.edu	37	12	100727960	100727960	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100727960C>T	ENST00000360820.2	+	14	2215	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	593					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCTTTCATTTCCGTCATAAAA	0.308000													21	34					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346621	70346621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70346621C>A	ENST00000305107.6	-	6	1364	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K366N|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.E304*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	440					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAGCATTCTCTTTATATCTA	0.418000													30	74					5.45727e-16	7.22369e-16	1	1	0
LSM5	0	broad.mit.edu	37	7	32526906	32526906	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:32526906C>T	ENST00000450169.2	-	5	296		c.e5-1		LSM5_ENST00000409987.1_Splice_Site|LSM5_ENST00000409782.1_Splice_Site|LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409292.1_Splice_Site	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CAGGAACCAGCTGCATAAAGA	0.393000													13	12					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47919053	47919053	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47919053C>T	ENST00000276054.4	-	5	1340	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.E246K|ZNF630_ENST00000409324.3_Missense_Mutation_p.E260K			Q2M218	ZN630_HUMAN	zinc finger protein 630	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTGGGTTTCTCTCTGGCTTGA	0.378000													32	14					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217465	150217465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150217465G>T	ENST00000313543.4	+	2	560	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	135							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCGCAAAGAAGAGTTGGA	0.527000													12	47					2.27111e-07	2.60515e-07	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906076	144906076	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144906076T>G	ENST00000370490.1	+	1	6388	c.2133T>G	c.(2131-2133)taT>taG	p.Y711*	SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Y711*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	711						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTAGCCTATTACCGAAACC	0.483000													6	189					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100917219	100917219	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100917219C>T	ENST00000393437.3	-	4	1591	c.952G>A	c.(952-954)Gca>Aca	p.A318T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A75T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	318					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACATTTGCTGTAGCTGAA	0.353000													11	23					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712246	10712246	+	Missense_Mutation	SNP	G	G	A	rs142436125		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10712246G>A	ENST00000345985.3	-	20	1978	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000538384.1_Missense_Mutation_p.S647L|NOL10_ENST00000381685.5_Missense_Mutation_p.S673L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	673						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTGTCCGGCCGAACGACGGAG	0.483000													53	84					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123383094	123383094	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:123383094G>A	ENST00000360772.3	-	24	4221	c.3843C>T	c.(3841-3843)agC>agT	p.S1281S	MYLK_ENST00000360304.3_Silent_p.S1281S|MYLK_ENST00000475616.1_Silent_p.S1281S|MYLK_ENST00000354792.5_Silent_p.S81S|MYLK_ENST00000346322.5_Silent_p.S1212S|MYLK_ENST00000359169.1_Silent_p.S1281S			Q15746	MYLK_HUMAN	myosin light chain kinase	1281	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.S1281S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATGTGCTCGCTTTCCTGGA	0.617000													53	93					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204013739	204013739	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204013739G>A	ENST00000449802.1	+	33	5576	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1748							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCATTTAATCGAAAAGCACGC	0.343000													22	38					0	0	1	0	0
MAGEF1	64110	broad.mit.edu	37	3	184428893	184428893	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184428893G>T	ENST00000317897.3	-	1	943	c.717C>A	c.(715-717)ttC>ttA	p.F239L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	239	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GACCCCAAGAGAATTCATATT	0.507000													19	45					6.94344e-10	8.4399e-10	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34269487	34269487	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34269487C>T	ENST00000346562.2	+	11	1952	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	NPAS3_ENST00000551492.1_Silent_p.F663F|NPAS3_ENST00000357798.5_Silent_p.F645F|NPAS3_ENST00000356141.4_Silent_p.F658F|NPAS3_ENST00000548645.1_Silent_p.F628F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCATCAATTTCGACAATGACA	0.617000													17	56					0	0	1	0	0
MIR521-2	0	broad.mit.edu	37	19	54219879	54219879	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54219879T>C	ENST00000384818.1	+	0	32					NR_030203.1																						AGGGAAGAATTTTCTCTTGTC	0.413000													51	119					0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95237107	95237107	+	Missense_Mutation	SNP	C	C	T	rs146516859		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95237107C>T	ENST00000375544.3	-	2	316	c.73G>A	c.(73-75)Gca>Aca	p.A25T	ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000450139.2_5'UTR|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	25					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCTTCAGTGCGATGTGTGAA	0.423000													17	21					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9583919	9583919	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9583919T>C	ENST00000301480.4	-	5	387	c.174A>G	c.(172-174)aaA>aaG	p.K58K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	58	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGACACTGGGTTTAAAGAGCT	0.453000													61	75					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216954	111216954	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216954G>T	ENST00000369769.2	-	1	701	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	160						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTAGTAGAGGATGGCGTCG	0.647000													53	102					1.11015e-26	1.57159e-26	1	1	0
EFHC2	80258	broad.mit.edu	37	X	44035549	44035549	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:44035549G>T	ENST00000420999.1	-	13	2114	c.2031C>A	c.(2029-2031)tcC>tcA	p.S677S	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	677							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTGACAATAAGGATTCTAGAA	0.373000													4	4					2.56e-06	2.86294e-06	1	1	0
TG	7038	broad.mit.edu	37	8	133961050	133961050	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133961050C>T	ENST00000220616.4	+	27	5303	c.5263C>T	c.(5263-5265)Ccc>Tcc	p.P1755S	TG_ENST00000377869.1_Missense_Mutation_p.P1698S|TG_ENST00000542445.1_Missense_Mutation_p.P125S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1755					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGAGCTCACCCAGTGTCCT	0.522000													48	77					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170377387	170377387	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170377387G>A	ENST00000284669.1	+	5	1656	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E465K|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.E465K	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGTAATGACCGAATTTCCCCA	0.343000													17	37					0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133779416	133779416	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133779416C>A	ENST00000536435.2	+	6	1474	c.1144C>A	c.(1144-1146)Cat>Aat	p.H382N	ZNF268_ENST00000228289.5_Missense_Mutation_p.H382N|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.H221N	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCAGAAAACTCATTCAGGACA	0.388000													5	11					0.184627	0.185817	1	1	0
CSF2RA	0	broad.mit.edu	37	X	1428454	1428454	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1428454T>A	ENST00000355432.3	+	11	1255	c.1106T>A	c.(1105-1107)cTt>cAt	p.L369H	CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCTGTGAACCTTTATATCATT	0.502000													17	114					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952573	119952573	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119952573G>A	ENST00000307142.4	+	4	2839	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.S881S|SYNPO2_ENST00000434046.2_Silent_p.S881S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	881						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						AAAGGCAGTCGAGAATGGAGA	0.552000													39	78					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374085	37374085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37374085C>A	ENST00000233057.4	-	4	473	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E51*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E51*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	51	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TCTGGAAATTCTCTTCCATCT	0.323000													6	18					0.217242	0.218251	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189061694	189061694	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189061694G>A	ENST00000332517.3	+	2	561	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	141					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACTCCAGGAAATCCTGAA	0.493000													17	35					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47918899	47918899	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47918899C>A	ENST00000276054.4	-	5	1494	c.560G>T	c.(559-561)aGg>aTg	p.R187M	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R297M|ZNF630_ENST00000409324.3_Missense_Mutation_p.R311M			Q2M218	ZN630_HUMAN	zinc finger protein 630	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGAATCCTCTGATGCAC	0.418000													23	12					3.62473e-10	4.42315e-10	1	1	0
ZBBX	79740	broad.mit.edu	37	3	166958694	166958694	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:166958694C>A	ENST00000392766.2	-	21	2630	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	ZBBX_ENST00000455345.2_Missense_Mutation_p.D803Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D764Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D803Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D735Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	764						intracellular	zinc ion binding	p.D803N(1)|p.D764N(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTGGTATCTCTTCCAGAA	0.383000													18	39					4.35082e-09	5.20082e-09	1	1	0
PKD2L2	27039	broad.mit.edu	37	5	137235410	137235410	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137235410C>A	ENST00000508638.1	+	5	785	c.730C>A	c.(730-732)Cta>Ata	p.L244I	PKD2L2_ENST00000508883.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.L210I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L244I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.L244I	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	244						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATGTAAATCTATTTTGTAT	0.338000													14	10					4.36969e-10	5.32873e-10	1	1	0
IGF1R	3480	broad.mit.edu	37	15	99500656	99500656	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99500656G>A	ENST00000268035.6	+	21	4700	c.4089G>A	c.(4087-4089)caG>caA	p.Q1363Q	IGF1R_ENST00000558762.1_Silent_p.Q1362Q|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1363					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCTGCCCCAGTCTTCGACCT	0.622000													23	41					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17948837	17948837	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17948837A>C	ENST00000458235.1	-	12	1704	c.1605T>G	c.(1603-1605)atT>atG	p.I535M	JAK3_ENST00000534444.1_Missense_Mutation_p.I535M|JAK3_ENST00000527670.1_Missense_Mutation_p.I535M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	535	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCCCCGGTAAATCTTGGTGA	0.592000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								4	167					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489458	44489458	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489458G>T	ENST00000425708.2	-	7	2046	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	ZNF445_ENST00000396077.2_Missense_Mutation_p.L569I			P59923	ZN445_HUMAN	zinc finger protein 445	569					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCAATTCAAGAAATTTCTTC	0.468000													32	65					1.62565e-12	2.05093e-12	1	1	0
TENM3	55714	broad.mit.edu	37	4	183714933	183714933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:183714933G>T	ENST00000511685.1	+	26	7231	c.7108G>T	c.(7108-7110)Gaa>Taa	p.E2370*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.E2370*					teneurin transmembrane protein 3																		ACCTGACATAGAAATCTGGAA	0.413000													15	45					3.41278e-10	4.16994e-10	1	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144075919	144075919	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144075919G>T	ENST00000056217.5	+	14	4770	c.4596G>T	c.(4594-4596)gaG>gaT	p.E1532D	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E454D	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1532	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGGCACTGGAGAAAGCCGACG	0.577000													67	138					1.05635e-38	1.52265e-38	1	1	0
KIF3B	9371	broad.mit.edu	37	20	30898040	30898040	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30898040G>T	ENST00000375712.3	+	2	627	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	154	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGATCCGAGATTTGCTCTC	0.458000													10	44					2.17888e-05	2.39107e-05	1	1	0
EMG1	10436	broad.mit.edu	37	12	7084399	7084399	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7084399G>T	ENST00000546220.1	+	0	510				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										AGGTAATTAAGAATCCAGTAT	0.433000													3	21					0.004672	0.00483628	1	1	0
MAST1	22983	broad.mit.edu	37	19	12981886	12981886	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12981886G>A	ENST00000251472.4	+	24	3202	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1055	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AACGCCCTTCGAAAATACCTC	0.607000													19	156					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219487377	219487377	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219487377A>G	ENST00000450993.2	+	6	887	c.548A>G	c.(547-549)gAc>gGc	p.D183G	PLCD4_ENST00000417849.1_Missense_Mutation_p.D183G|PLCD4_ENST00000432688.1_Missense_Mutation_p.D183G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	183	EF-hand 2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGCAGCAGACACGTCCCAG	0.373000													9	26					0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21815500	21815500	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21815500G>A	ENST00000380172.4	+	2	308	c.102G>A	c.(100-102)gtG>gtA	p.V34V	MTAP_ENST00000580900.1_Silent_p.V34V|MTAP_ENST00000460874.2_Silent_p.V51V|RP11-145E5.5_ENST00000404796.2_Silent_p.V34V|MTAP_ENST00000427788.2_3'UTR	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	34					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	AAAAATATGTGGATACTCCAT	0.323000													13	22					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344819	38344819	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38344819C>A	ENST00000374618.3	+	5	1945	c.1767C>A	c.(1765-1767)atC>atA	p.I589I	ZNF33A_ENST00000432900.2_Silent_p.I595I|ZNF33A_ENST00000307441.9_Silent_p.I588I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.I588I	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	588						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTGGAAAAATCTTTTACAATA	0.378000													26	60					1.42536e-11	1.77514e-11	1	1	0
NRAP	4892	broad.mit.edu	37	10	115413816	115413816	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115413816A>G	ENST00000369358.4	-	5	673	c.429T>C	c.(427-429)atT>atC	p.I143I	NRAP_ENST00000360478.3_Silent_p.I143I|NRAP_ENST00000369360.3_Silent_p.I143I|NRAP_ENST00000359988.3_Silent_p.I143I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	143						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCATCCTTACAATTTCGGGGT	0.453000													79	139					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57642498	57642498	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57642498G>A	ENST00000332782.2	-	4	624	c.423C>T	c.(421-423)ttC>ttT	p.F141F	STAC3_ENST00000554578.1_Silent_p.F102F|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	141					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGATCTTGCCGAAGCATCTCT	0.542000													192	364					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	376					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R376*(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTACTAGCTCGAAGAGTATGT	0.453000													8	48					0	0	1	0	0
RPL38	6169	broad.mit.edu	37	17	72205359	72205359	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72205359A>C	ENST00000311111.6	+	4	229	c.98A>C	c.(97-99)aAg>aCg	p.K33T	RPL38_ENST00000533498.1_Missense_Mutation_p.K33T|RPL38_ENST00000584577.1_Missense_Mutation_p.K33T|RPL38_ENST00000534490.1_Missense_Mutation_p.K33T|RPL38_ENST00000439590.2_Missense_Mutation_p.K33T			P63173	RL38_HUMAN	ribosomal protein L38	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|pancreas(1)	2						GACAACGTGAAGTTTAAAGTT	0.458000													9	107					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970234	101970234	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101970234C>T	ENST00000543253.1	+	5	1356	c.437C>T	c.(436-438)tCc>tTc	p.S146F	GPRASP2_ENST00000535209.1_Missense_Mutation_p.S146F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S146F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGGAGTGTCCCAGACTAAT	0.532000													93	156					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29772619	29772619	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29772619C>T	ENST00000269202.6	+	3	140	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MEP1B_ENST00000581447.1_Silent_p.G31G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	31					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						ATGTAGATGGCGGAATGGACC	0.284000													39	74					0	0	1	0	0
FAM63A	55793	broad.mit.edu	37	1	150973025	150973025	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150973025T>C	ENST00000361936.5	-	6	1597	c.643A>G	c.(643-645)Aca>Gca	p.T215A	FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Missense_Mutation_p.T73A|FAM63A_ENST00000493834.2_Missense_Mutation_p.T120A|FAM63A_ENST00000361738.6_Missense_Mutation_p.T263A	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	215							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACGCCTGTGAATCGCACA	0.483000													37	64					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91488915	91488915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91488915G>T	ENST00000416354.1	+	18	2374	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E768*|KIF20B_ENST00000371728.3_Nonsense_Mutation_p.E768*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E728*			Q96Q89	KI20B_HUMAN	kinesin family member 20B	768					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGAATTAAAGAATTGATAAA	0.239000													9	21					0.0477658	0.0484551	1	1	0
SLFN11	91607	broad.mit.edu	37	17	33679887	33679887	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33679887G>A	ENST00000394566.1	-	7	2466	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	732						nucleus	ATP binding	p.R732C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCATTGCGAACTATTCTG	0.443000													46	92					0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9709432	9709432	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9709432A>G	ENST00000467482.1	-	7	977	c.831T>C	c.(829-831)aaT>aaC	p.N277N	GPR143_ENST00000380929.2_Silent_p.N297N			P51810	GP143_HUMAN	G protein-coupled receptor 143	277					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAGAACCTCCATTGATATCTG	0.318000													6	12					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335881	57335881	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57335881C>A	ENST00000326441.9	-	4	506	c.143G>T	c.(142-144)aGg>aTg	p.R48M	PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_De_novo_Start_InFrame|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R48M|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000391708.3_De_novo_Start_InFrame|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000594706.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	48	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTCCGAAACCTCTGATGAAA	0.507000													24	32					6.21321e-17	8.30052e-17	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64084736	64084736	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64084736G>T	ENST00000295902.6	-	8	3111	c.2526C>A	c.(2524-2526)atC>atA	p.I842I	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.I898I	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	842						cytoplasm|nuclear membrane	zinc ion binding	p.I842I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATTAAGAAATGATACAGTTTT	0.433000													18	59					0.000958276	0.00100963	1	1	0
SCOC	0	broad.mit.edu	37	4	141302251	141302251	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141302251G>T	ENST00000394203.3	+	4	540	c.362G>T	c.(361-363)aGa>aTa	p.R121I	SCOC_ENST00000394205.3_Missense_Mutation_p.R121I|SCOC_ENST00000502535.1_Missense_Mutation_p.R81I|SCOC_ENST00000512749.1_Missense_Mutation_p.R81I|SCOC_ENST00000338517.4_Missense_Mutation_p.R121I|SCOC_ENST00000506597.1_Missense_Mutation_p.R130I|SCOC_ENST00000394201.3_Missense_Mutation_p.R158I|SCOC_ENST00000506322.1_Missense_Mutation_p.R81I	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	158						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAAAGCAAAAGAAAGTAAGGG	0.333000													5	20					0.217242	0.218251	1	1	0
RLF	6018	broad.mit.edu	37	1	40701803	40701803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40701803C>T	ENST00000372771.4	+	8	1456	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	477					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AACTTTAAAACGACACTGCCA	0.398000													33	52					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627126	29627126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29627126C>A	ENST00000376894.4	+	2	237	c.119C>A	c.(118-120)cCt>cAt	p.P40H	MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.P40H|MOG_ENST00000376891.4_Missense_Mutation_p.P40H|MOG_ENST00000431798.2_Missense_Mutation_p.P40H|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P40H|MOG_ENST00000416766.2_Missense_Mutation_p.P40H|MOG_ENST00000376898.3_Missense_Mutation_p.P40H|MOG_ENST00000396701.2_Missense_Mutation_p.P40H|MOG_ENST00000533330.2_Missense_Mutation_p.P40H|MOG_ENST00000494692.1_Missense_Mutation_p.P40H|MOG_ENST00000376902.3_Missense_Mutation_p.P40H|MOG_ENST00000376888.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	40	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCAAGACACCCTATCCGGGCT	0.547000													14	182					3.41278e-10	4.16994e-10	1	1	0
BEND5	79656	broad.mit.edu	37	1	49208353	49208353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:49208353G>A	ENST00000371833.3	-	4	922	c.836C>T	c.(835-837)tCg>tTg	p.S279L	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	279										large_intestine(5)|lung(2)|skin(1)	8						GTAATAGGACGACGTATTTGC	0.483000													35	51					0	0	1	0	0
SZRD1	26099	broad.mit.edu	37	1	16719767	16719767	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16719767A>G	ENST00000401088.4	+	3	321	c.146A>G	c.(145-147)gAc>gGc	p.D49G	SZRD1_ENST00000471507.1_Missense_Mutation_p.D48G|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000401089.3_Missense_Mutation_p.D30G|SZRD1_ENST00000492354.1_Missense_Mutation_p.D29G|SZRD1_ENST00000375590.3_Missense_Mutation_p.D29G	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1			SUZ RNA binding domain containing 1																		GTGATTCAGGACGATAGCCTT	0.577000													20	139					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119670796	119670796	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119670796G>T	ENST00000371322.5	-	15	2093	c.2032C>A	c.(2032-2034)Cat>Aat	p.H678N	CUL4B_ENST00000404115.3_Missense_Mutation_p.H696N|CUL4B_ENST00000336592.6_Missense_Mutation_p.H683N	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	696					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTAAATGAACTTCCATA	0.353000													22	37					2.89027e-11	3.58842e-11	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9577913	9577913	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9577913T>C	ENST00000301480.4	-	10	1923	c.1710A>G	c.(1708-1710)aaA>aaG	p.K570K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTCATAGGGTTTCTCTCCAG	0.398000													35	63					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5255095	5255095	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:5255095G>A	ENST00000256497.4	+	11	1905	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	591					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAGCATCTTCGGGAATTGCCA	0.473000													9	19					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147929810	147929810	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147929810G>A	ENST00000360693.3	-	3	180	c.42C>T	c.(40-42)ttC>ttT	p.F14F	HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000377888.3_Silent_p.F14F|HTR4_ENST00000354217.2_Silent_p.F14F|HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Silent_p.F14F|HTR4_ENST00000520514.1_Silent_p.F14F|HTR4_ENST00000517929.1_Silent_p.F14F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	14					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCACTGACCCGAAACCCTCCT	0.493000													23	54					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22609946	22609946	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22609946T>G	ENST00000333957.4	-	23	2938	c.2683A>C	c.(2683-2685)Att>Ctt	p.I895L	C2CD5_ENST00000545552.1_Missense_Mutation_p.I949L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I946L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I948L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I946L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I937L|C2CD5_ENST00000544930.1_Missense_Mutation_p.I751L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AACATGTTAATTATCCCAAGA	0.323000													15	26					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32908477	32908477	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32908477A>C	ENST00000324868.8	-	1	359	c.332T>G	c.(331-333)cTg>cGg	p.L111R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	111					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GCCTCCCACCAGCGCGATCAC	0.672000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	60					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45645642	45645642	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45645642A>C	ENST00000263736.4	-	18	2257	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	SRBD1_ENST00000535761.1_Missense_Mutation_p.I251S|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCATTCAATAATATTTTTGGC	0.388000													23	40					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063935	7063935	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7063935G>T	ENST00000299481.4	+	4	1024	c.678G>T	c.(676-678)gaG>gaT	p.E226D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	226	NACHT.				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)		AGCTGAAAGAGAGAAGCTTTG	0.423000													36	74					4.34311e-12	5.44389e-12	1	1	0
KIF11	3832	broad.mit.edu	37	10	94397195	94397195	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94397195A>G	ENST00000260731.3	+	16	2143	c.2053A>G	c.(2053-2055)Aat>Gat	p.N685D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	685					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGTGTAACAATCTACATGA	0.338000													12	19					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152695763	152695763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152695763G>T	ENST00000360283.6	-	13	1591	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	CACNB4_ENST00000427385.1_Missense_Mutation_p.S460Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.S478Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.S431Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.S444Y|CACNB4_ENST00000201943.5_Missense_Mutation_p.S416Y			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	478					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCTATGCTGAGAACTGGAAGA	0.463000													10	23					2.74318e-10	3.35981e-10	1	1	0
BST1	683	broad.mit.edu	37	4	15706562	15706562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15706562G>T	ENST00000382346.3	+	2	257	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	BST1_ENST00000265016.4_Intron			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	63					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AAACAGCAGAGAACCACCTGT	0.403000													3	7					1	1	1	1	0
USP24	23358	broad.mit.edu	37	1	55567320	55567320	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567320A>G	ENST00000294383.6	-	43	5081	c.5082T>C	c.(5080-5082)ggT>ggC	p.G1694G	USP24_ENST00000407756.1_Silent_p.G1534G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1694					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGTTGCACCACCATTTCTCA	0.458000													4	19					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143159024	143159024	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:143159024A>C	ENST00000513000.1	-	13	1262	c.829T>G	c.(829-831)Ttg>Gtg	p.L277V	INPP4B_ENST00000308502.4_Missense_Mutation_p.L277V|INPP4B_ENST00000509777.1_Missense_Mutation_p.L277V|INPP4B_ENST00000262992.4_Missense_Mutation_p.L277V|INPP4B_ENST00000508116.1_Missense_Mutation_p.L277V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	277					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACCTGCACAAATCTTCTTTA	0.284000													12	15					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829644	38829644	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829644G>T	ENST00000436693.2	-	2	1570	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	TLR6_ENST00000381950.1_Missense_Mutation_p.S484Y	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	484					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCAGTTAAAGAATTGAAAGC	0.408000													38	55					3.21399e-22	4.46229e-22	1	1	0
CDC6	990	broad.mit.edu	37	17	38458221	38458221	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38458221A>C	ENST00000209728.4	+	12	2122	c.1651A>C	c.(1651-1653)Att>Ctt	p.I551L		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	551					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TAAAGCTTTAATTGGAAATAT	0.368000													20	47					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				31	47					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412779	50412779	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50412779T>G	ENST00000596217.1	-	2	2173	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000352066.3_Missense_Mutation_p.K96Q|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.K96Q|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.K96Q|NUP62_ENST00000597029.1_Missense_Mutation_p.K96Q|NUP62_ENST00000422090.2_Missense_Mutation_p.K96Q			P37198	NUP62_HUMAN	nucleoporin 62kDa	96	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTTGAGCTTTGAAGCACCG	0.572000													61	90					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439882	52439882	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52439882A>C	ENST00000242819.4	+	2	664	c.368A>C	c.(367-369)aAa>aCa	p.K123T		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	123						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		ACTTTCTGGAAAAAGTACCGC	0.468000													65	118					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94178860	94178860	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94178860A>C	ENST00000297273.4	+	14	2016	c.1729A>C	c.(1729-1731)Atc>Ctc	p.I577L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	577						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTGAGAAGATCTTTTCTCT	0.333000													18	34					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403000	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			39	63					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804852	54804852	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54804852T>G	ENST00000306858.7	+	5	1199	c.1083T>G	c.(1081-1083)caT>caG	p.H361Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	361										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACAAACCTCATTTTGTTCCTA	0.343000													6	65					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117845063	117845063	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117845063T>C	ENST00000350763.4	-	5	2566	c.2155A>G	c.(2155-2157)Aaa>Gaa	p.K719E	TNC_ENST00000535648.1_Missense_Mutation_p.K719E|TNC_ENST00000423613.2_Missense_Mutation_p.K719E|TNC_ENST00000346706.3_Missense_Mutation_p.K719E|TNC_ENST00000345230.3_Missense_Mutation_p.K719E|TNC_ENST00000542877.1_Missense_Mutation_p.K719E|TNC_ENST00000340094.3_Missense_Mutation_p.K719E|TNC_ENST00000341037.4_Missense_Mutation_p.K719E|TNC_ENST00000537320.1_Missense_Mutation_p.K719E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	719	Fibronectin type-III 2.				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						GACTTGAATTTCAGGCCTTCA	0.463000													19	30					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906946	1906946	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1906946A>G	ENST00000399161.2	-	14	2685	c.1938T>C	c.(1936-1938)ttT>ttC	p.F646F	MYT1L_ENST00000428368.2_Silent_p.F644F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	646					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)		TGTTGTATTCAAACGAGGTCT	0.483000													10	63					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247901933	247901933	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247901933A>T	ENST00000283225.2	+	1	17	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						AATCAGACACAGATGATGGAA	0.388000													12	41					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148945	129148945	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129148945G>T	ENST00000540052.1	+	3	2241	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	BCORL1_ENST00000303743.5_Missense_Mutation_p.D733Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D733Y|BCORL1_ENST00000218147.7_Missense_Mutation_p.D733Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	733					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.D733N(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTGAACAAAGACCCCAACCT	0.597000													30	55					1.32181e-22	1.84065e-22	1	1	0
MAT2B	27430	broad.mit.edu	37	5	162945299	162945299	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162945299G>A	ENST00000280969.5	+	7	1183	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	MAT2B_ENST00000518731.1_3'UTR|MAT2B_ENST00000521838.1_3'UTR|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000321757.6_Missense_Mutation_p.R312Q	NM_182796.1	NP_877725.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	312					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.R301Q(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACACCATTTCGAATTGGAATC	0.423000													13	21					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952650	14952650	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14952650G>T	ENST00000248058.1	-	1	39	c.40C>A	c.(40-42)Ctc>Atc	p.L14I		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCCCAGGAGAAGAAATTCT	0.443000													26	43					2.41591e-17	3.2383e-17	1	1	0
CHD4	1108	broad.mit.edu	37	12	6709138	6709138	+	Nonsense_Mutation	SNP	G	G	T	rs147387698		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6709138G>T	ENST00000309577.6	-	10	1446	c.1283C>A	c.(1282-1284)tCg>tAg	p.S428*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.S421*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.S425*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.S428*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	428					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTCACCCTCCGAATTGTCCTC	0.547000													123	183					1.30956e-91	1.90374e-91	1	1	0
PNMA3	29944	broad.mit.edu	37	X	152226514	152226514	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152226514C>A	ENST00000447306.1	+	2	1438	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	PNMA3_ENST00000370265.4_Missense_Mutation_p.L368I|PNMA3_ENST00000370264.4_Missense_Mutation_p.L368I	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	368					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTACCTCTCCCTGCCTC	0.637000													10	60					7.48243e-07	8.49459e-07	1	1	0
ICOSLG	23308	broad.mit.edu	37	21	45658337	45658337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45658337G>A	ENST00000407780.3	-	2	176	c.49C>T	c.(49-51)Cga>Tga	p.R17*	ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R17*			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	17					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	p.R17*(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTACCAGCTCGAAGGCTGCTG	0.607000													5	34					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128347738	128347738	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128347738A>C	ENST00000389524.4	+	16	1979	c.1926A>C	c.(1924-1926)aaA>aaC	p.K642N	MYO7B_ENST00000428314.1_Missense_Mutation_p.K642N|MYO7B_ENST00000409816.2_Missense_Mutation_p.K642N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	642	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTGATGAAAATCCTGACCA	0.512000													11	21					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447242	10447242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10447242C>A	ENST00000245503.5	-	7	1009	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	MYH2_ENST00000532183.1_Nonsense_Mutation_p.E209*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E209*|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	209	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAAGTAATTTCTTCCTTCTTC	0.458000													22	38					8.10497e-08	9.43176e-08	1	1	0
RNASE10	338879	broad.mit.edu	37	14	20979224	20979224	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20979224A>C	ENST00000430083.1	+	2	1082	c.678A>C	c.(676-678)aaA>aaC	p.K226N	RNASE10_ENST00000328444.5_Missense_Mutation_p.K198N			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	198						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTGTTATAAAAAAGCACATTA	0.413000													15	19					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37821468	37821468	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37821468A>G	ENST00000264741.5	+	25	2999	c.2743A>G	c.(2743-2745)Act>Gct	p.T915A	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	915					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGAAAGTCGTACTATAGACAT	0.373000													25	48					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102968693	102968693	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102968693G>A	ENST00000319560.6	+	3	465	c.274G>A	c.(274-276)Gag>Aag	p.E92K	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	92						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453000													10	101					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545866	112545866	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112545866T>G	ENST00000488794.1	-	6	1179	c.590A>C	c.(589-591)aAg>aCg	p.K197T	CD200R1L_ENST00000398214.1_Missense_Mutation_p.K218T|CD200R1L_ENST00000448932.1_Missense_Mutation_p.K197T			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	218	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGACAGACTCTTGTTGCCAGT	0.453000													25	50					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	157014242	157014242	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157014242C>A	ENST00000368194.3	-	0	920				ARHGEF11_ENST00000361409.2_De_novo_Start_OutOfFrame	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGATAGAATCCTTTCTCCTCC	0.498000													3	8					0.004672	0.00483628	1	1	0
VEPH1	79674	broad.mit.edu	37	3	157177906	157177906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157177906C>A	ENST00000494677.1	-	5	1115	c.593G>T	c.(592-594)aGc>aTc	p.S198I	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.S198I|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCATAAATGCTTGATGAAAA	0.378000													13	41					7.03913e-09	8.36985e-09	1	1	0
ZNF317	57693	broad.mit.edu	37	19	9271130	9271130	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9271130G>T	ENST00000247956.6	+	7	1114	c.809G>T	c.(808-810)aGa>aTa	p.R270I	ZNF317_ENST00000360385.3_Missense_Mutation_p.R238I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGCCACGCAAGAACTCACCTC	0.567000													40	66					1.47197e-15	1.94065e-15	1	1	0
ANO4	121601	broad.mit.edu	37	12	101413875	101413875	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101413875C>A	ENST00000392979.3	+	8	1054	c.693C>A	c.(691-693)caC>caA	p.H231Q	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.H266Q|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	266						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						TCGTGCATCACATTTTACAAA	0.299000										HNSCC(74;0.22)			13	24					2.32078e-09	2.7896e-09	1	1	0
MMP13	4322	broad.mit.edu	37	11	102815028	102815028	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102815028G>A	ENST00000260302.3	-	10	1411	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	461	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTGGCATGACGCGAACAATAC	0.358000													18	159					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115792003	115792003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115792003T>G	ENST00000264363.2	-	7	2318	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	547	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)		AGTTTGCAATTTCAGGTTGGT	0.443000													21	32					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496278	110496278	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110496278A>G	ENST00000324068.1	-	4	631	c.464T>C	c.(463-465)aTg>aCg	p.M155T	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	155	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAACTCATTCATGGAAGTGGA	0.433000													28	45					0	0	1	0	0
GPR63	0	broad.mit.edu	37	6	97246800	97246800	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:97246800G>A	ENST00000229955.3	-	2	1153	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	GPR63_ENST00000417980.1_Missense_Mutation_p.R270W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	270						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCATTGTGCCGAAGGGTGTTG	0.468000													38	83					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	101038599	101038599	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101038599C>A	ENST00000193391.7	-	2	350	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	55					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAGAAAGGTCTGTTGATTCT	0.423000													7	83					5.18039e-06	5.75679e-06	1	1	0
KLHL41	10324	broad.mit.edu	37	2	170367292	170367292	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170367292G>T	ENST00000284669.1	+	1	1081	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		CAGATTCCCAGAAATCATTCC	0.428000													30	53					3.1745e-13	4.05871e-13	1	1	0
IL36B	27177	broad.mit.edu	37	2	113783740	113783740	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113783740T>G	ENST00000259213.4	-	5	438	c.331A>C	c.(331-333)Aac>Cac	p.N111H		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	111					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						acatccaggtttatgcatgtg	0.473000													12	29					0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49841919	49841919	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49841919T>A	ENST00000251108.6	+	5	837	c.724T>A	c.(724-726)Tta>Ata	p.L242I	CDADC1_ENST00000444959.1_Missense_Mutation_p.L44I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	242							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATATGAAATGTTATTTTTGGT	0.289000													6	15					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95884164	95884164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95884164C>T	ENST00000523731.1	+	21	2600	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.R823*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	823					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGAGCTAGTTCGATATACACT	0.348000													16	30					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541287	12541287	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12541287T>G	ENST00000301547.5	-	4	1896	c.1699A>C	c.(1699-1701)Aaa>Caa	p.K567Q	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	567					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGAATGCTTTCCCACATTCC	0.393000													15	65					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88789139	88789139	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88789139T>G	ENST00000319231.5	-	1	454	c.4A>C	c.(4-6)Aaa>Caa	p.K2Q	KCNK10_ENST00000340700.5_Intron	NM_138317.2	NP_612190.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						attggaaatttcattgcttcg	0.473000													15	52					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40574146	40574146	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40574146G>A	ENST00000339296.5	+	5	1337	c.885G>A	c.(883-885)gaG>gaA	p.E295E	ZNF621_ENST00000403205.2_Silent_p.E295E|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Silent_p.E184E|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AATGTAAGGAGTGTGGCAAAG	0.423000													20	45					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486805	125486805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125486805C>A	ENST00000259466.1	+	1	537	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGCACTTTTTCTGTGACACCC	0.507000													74	227					1.70349e-48	2.47193e-48	1	1	0
OR13C4	138804	broad.mit.edu	37	9	107289097	107289097	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107289097A>C	ENST00000277216.3	-	1	393	c.394T>G	c.(394-396)Tac>Gac	p.Y132D		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGATGGGGTATCTCAGAGGG	0.453000													20	97					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88407879	88407879	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88407879T>C	ENST00000261304.2	-	15	1800	c.1694A>G	c.(1693-1695)gAt>gGt	p.D565G	GALC_ENST00000393568.4_Missense_Mutation_p.D542G|GALC_ENST00000393569.2_Missense_Mutation_p.D539G|GALC_ENST00000544807.2_Missense_Mutation_p.D509G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	565					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TATGTATACATCACACTTTAT	0.373000													48	67					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900320	133900320	+	Silent	SNP	C	C	T	rs141011127		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133900320C>T	ENST00000220616.4	+	10	2308	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TG_ENST00000377869.1_Silent_p.S756S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	756	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCACCCTTTCCGACACCTACA	0.587000													21	34					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107691480G>A	ENST00000445937.1	+	4	524	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R89Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	89					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.R89Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GATGGAAGACGAATGTCTTTT	0.338000													11	42					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080518	30080518	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30080518A>C	ENST00000376734.3	-	2	190	c.65T>G	c.(64-66)aTt>aGt	p.I22S	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.I22S	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	22						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTCTGCAGAATGTCCAGGCA	0.483000													61	23					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113723356	113723356	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113723356C>A	ENST00000003302.4	-	3	204		c.e3-1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Intron|USP28_ENST00000542033.1_Splice_Site|USP28_ENST00000537706.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATTACTGGCCTATGGGAGAA	0.388000													7	42					0.00198382	0.00207034	1	1	0
PPIL6	285755	broad.mit.edu	37	6	109752502	109752502	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109752502A>C	ENST00000521072.2	-	3	858	c.278T>G	c.(277-279)tTt>tGt	p.F93C	PPIL6_ENST00000440797.2_Missense_Mutation_p.F93C|PPIL6_ENST00000424445.2_Missense_Mutation_p.F61C|PPIL6_ENST00000524031.1_5'UTR	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	93					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ACCATTAACAAAAGAAATCAC	0.403000													22	37					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216610	111216610	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216610G>A	ENST00000369769.2	-	1	1045	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	274						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCTGCTTCGAATGAGTCCT	0.612000													4	91					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337987	16337987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16337987C>A	ENST00000400202.1	-	3	3239	c.2527G>T	c.(2527-2529)Gaa>Taa	p.E843*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E843*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E843*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	843	Repression domain 3.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGTGCCATTTCATTATTTCTG	0.353000													27	39					1.38267e-23	1.93402e-23	1	1	0
OR2A2	442361	broad.mit.edu	37	7	143807156	143807156	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143807156C>A	ENST00000408979.2	+	1	550	c.481C>A	c.(481-483)Ctc>Atc	p.L161I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACATGAAATTCTCCTTCTAAG	0.532000													33	59					1.08312e-15	1.43e-15	1	1	0
ENOX2	10495	broad.mit.edu	37	X	129843233	129843233	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129843233G>A	ENST00000338144.3	-	4	450	c.33C>T	c.(31-33)taC>taT	p.Y11Y	ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.Y11Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	11					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGCCTATTTCGTAGACCCACA	0.413000													28	38					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72058522	72058522	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:72058522G>A	ENST00000357731.4	-	6	1157	c.918C>T	c.(916-918)acC>acT	p.T306T	NEGR1_ENST00000306821.3_Silent_p.T178T|NEGR1_ENST00000434200.1_Silent_p.T260T	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	306	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGCTCGCATTGGTTGTGCCTA	0.463000													28	47					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542779	48542779	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542779G>T	ENST00000376701.4	+	2	315	c.240G>T	c.(238-240)caG>caT	p.Q80H	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	80	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ATAACCCCCAGAAGTCCTACT	0.592000			"""Mis, N, F, S"""			lymphoma							21	26					1.96292e-10	2.40731e-10	1	1	0
LRRC16B	90668	broad.mit.edu	37	14	24533552	24533552	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24533552C>A	ENST00000342740.5	+	32	3231	c.3077C>A	c.(3076-3078)tCt>tAt	p.S1026Y	LRRC16B_ENST00000334420.7_Missense_Mutation_p.S122Y	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1026										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGAAAGTTCTAGGTGTGAT	0.582000													3	9					0.000602214	0.000636035	1	1	0
TENM2	57451	broad.mit.edu	37	5	167689283	167689283	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689283C>A	ENST00000519204.1	+	28	7548	c.7430C>A	c.(7429-7431)tCt>tAt	p.S2477Y	TENM2_ENST00000518659.1_Missense_Mutation_p.S2598Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S2359Y					teneurin transmembrane protein 2																		AAGGTGGCATCTGTGCTGAAC	0.562000													9	15					0.000274275	0.000292037	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671492	151671492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671492G>T	ENST00000402676.2	+	4	2206	c.1966G>T	c.(1966-1968)Gaa>Taa	p.E656*	AKAP12_ENST00000253332.1_Nonsense_Mutation_p.E656*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E558*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E551*	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	656					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AATGCAAGAAGAAATGAAAGG	0.483000													20	48					2.4624e-09	2.95225e-09	1	1	0
SCRN3	79634	broad.mit.edu	37	2	175289296	175289296	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175289296G>T	ENST00000272732.6	+	7	1093	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	SCRN3_ENST00000409673.3_Missense_Mutation_p.K330N|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	337					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TAGTTAAAAAGAAATCACATT	0.328000													9	27					3.09899e-07	3.54467e-07	1	1	0
OGT	8473	broad.mit.edu	37	X	70793483	70793483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70793483C>T	ENST00000373719.3	+	22	3197	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	OGT_ENST00000373701.3_Missense_Mutation_p.R984C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	994					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.R994C(1)|p.R984C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAAGAAAGTTCGTGGCAAAGT	0.418000													16	33					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198231762	198231762	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198231762C>A	ENST00000367385.4	+	4	598	c.256C>A	c.(256-258)Ctt>Att	p.L86I	NEK7_ENST00000538004.1_Missense_Mutation_p.L86I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	86	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AATAGATCTTCTTAAGGTAAT	0.279000													20	41					4.54149e-19	6.16979e-19	1	1	0
NPHP1	4867	broad.mit.edu	37	2	110881402	110881402	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110881402T>C	ENST00000316534.4	-	20	2241	c.2168A>G	c.(2167-2169)gAc>gGc	p.D723G	NPHP1_ENST00000417665.1_Missense_Mutation_p.D701G|NPHP1_ENST00000393272.3_Missense_Mutation_p.D722G|NPHP1_ENST00000445609.2_Missense_Mutation_p.D667G|NPHP1_ENST00000355301.4_Missense_Mutation_p.D604G			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	722					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACCCAAGAAGTCATAGGTCTG	0.493000													13	59					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22635604	22635604	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22635604C>T	ENST00000333957.4	-	14	1879	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	C2CD5_ENST00000545552.1_Missense_Mutation_p.E555K|C2CD5_ENST00000542676.1_Missense_Mutation_p.E542K|C2CD5_ENST00000536386.1_Missense_Mutation_p.E544K|C2CD5_ENST00000446597.1_Missense_Mutation_p.E542K|C2CD5_ENST00000396028.2_Missense_Mutation_p.E533K|C2CD5_ENST00000544930.1_Missense_Mutation_p.E357K	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ACTTCATATTCCATAAATGGC	0.348000													27	36					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147640	59147640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59147640G>T	ENST00000472487.1	-	8	1115	c.1076C>A	c.(1075-1077)tCt>tAt	p.S359Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	359					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)					CATTTGGCAAGAATGAAAAAG	0.368000													20	32					2.4624e-09	2.95225e-09	1	1	0
GZMB	3002	broad.mit.edu	37	14	25101296	25101296	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:25101296G>T	ENST00000216341.4	-	4	474	c.368C>A	c.(367-369)gCt>gAt	p.A123D	GZMB_ENST00000382542.1_Missense_Mutation_p.A157D|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.A78D|GZMB_ENST00000415355.3_Missense_Mutation_p.A111D|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.L78M			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	123	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGGCTGCACAGCTCTGGTCCG	0.637000													12	46					1.08611e-07	1.25818e-07	1	1	0
FAF2	23197	broad.mit.edu	37	5	175921084	175921084	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175921084C>T	ENST00000261942.6	+	6	621	c.569_splice	c.e6+1	p.R190_splice		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	190					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGAGTTTTGTCGGTAAGTGGA	0.403000													17	38					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118467596	118467596	+	Nonsense_Mutation	SNP	C	C	T	rs141299152		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118467596C>T	ENST00000392542.2	+	11	1362	c.829C>T	c.(829-831)Cga>Tga	p.R277*	RFC5_ENST00000229043.3_Nonsense_Mutation_p.R213*|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Nonsense_Mutation_p.R298*	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	298					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTTCAGTTCGAATACATTT	0.363000													35	55					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103343277	103343277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103343277C>A	ENST00000267273.6	-	2	173	c.168G>T	c.(166-168)caG>caT	p.Q56H		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	56							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GAACAAATTTCTGGAGGCTAT	0.418000													19	45					2.27525e-19	3.09626e-19	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128864216	128864216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:128864216G>T	ENST00000274487.4	+	6	1301	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	386	Peptidase M12B.				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)		TTTGCAGCCAGAACTATATAT	0.333000													15	16					1.05317e-09	1.27574e-09	1	1	0
MAP2K4	6416	broad.mit.edu	37	17	11984700	11984700	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11984700G>A	ENST00000415385.3	+	4	332	c.279G>A	c.(277-279)gaG>gaA	p.E93E	MAP2K4_ENST00000353533.5_Silent_p.E82E			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	82					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACAGCATTGAGTCATCAGGAA	0.378000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								21	30					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206862	58206862	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:58206862C>T	ENST00000377918.3	+	1	208	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	61	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCAGCAAGTCGGGTAGCTAC	0.692000													14	26					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2947303	2947303	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2947303G>A	ENST00000381130.2	+	8	1215	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	405						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTGACGGCCAGAACCTAATGC	0.542000													5	145					0	0	1	0	0
UNC50	25972	broad.mit.edu	37	2	99227280	99227280	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99227280T>C	ENST00000409975.1	+	2	1504	c.374T>C	c.(373-375)tTt>tCt	p.F125S	UNC50_ENST00000357765.2_Missense_Mutation_p.F108S|UNC50_ENST00000409347.1_Missense_Mutation_p.F125S			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	108					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATGGGATTCTTTGAGACAATA	0.398000													4	143					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107635333	107635333	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107635333T>G	ENST00000393561.1	-	3	678	c.495_splice	c.e3+1	p.K165_splice	LAMB1_ENST00000222399.6_Splice_Site_p.K141_splice|LAMB1_ENST00000393560.1_Splice_Site_p.K141_splice			P07942	LAMB1_HUMAN	laminin, beta 1	141	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTCTTACCTTGAAAGTCAT	0.358000													5	9					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800329	39800329	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39800329C>G	ENST00000564288.1	+	37	8846	c.8069C>G	c.(8068-8070)aCt>aGt	p.T2690S	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.T2695S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1130S|MACF1_ENST00000567887.1_Missense_Mutation_p.T2727S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2695					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGCAAATACTGGTGGAATC	0.428000													18	24					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184598657	184598657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184598657G>T	ENST00000334690.6	+	8	983	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E261*|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	261																	GAGAGCCCATGAAACTAATAT	0.308000													10	53					1.08611e-07	1.25818e-07	1	1	0
LRP1	4035	broad.mit.edu	37	12	57588394	57588394	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2701	LDL-receptor class A 15.				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	p.F2701F(2)		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)	TGAATTACTTCGCCTGCCCTA	0.632000													43	53					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62350017	62350017	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62350017G>A	ENST00000371158.2	+	22	3182	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	INADL_ENST00000316485.6_Missense_Mutation_p.R1023Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1023					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAAGCGACACGAGTTATTTCC	0.413000													33	69					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172411565	172411565	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411565A>G	ENST00000367728.1	-	1	1661	c.198T>C	c.(196-198)tgT>tgC	p.C66C	PIGC_ENST00000344529.4_Silent_p.C66C|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.C66C|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	66					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCACAAAAACACAAACACTGC	0.478000													48	112					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60025530	60025530	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60025530C>A	ENST00000586569.1	+	5	515	c.477C>A	c.(475-477)ttC>ttA	p.F159L	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F159L	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	159					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|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 JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CAGGCTACTTCTCTGATGCCT	0.418000													39	50					1.59932e-28	2.27211e-28	1	1	0
HBG1	3047	broad.mit.edu	37	11	5269669	5269669	+	Nonsense_Mutation	SNP	C	C	A	rs34647752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5269669C>A	ENST00000330597.3	-	3	451	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	122			E -> K (in Siena/Hull).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGAATTCTTTGCCGAAA	0.517000													27	29					8.16721e-17	1.09032e-16	1	1	0
NCL	4691	broad.mit.edu	37	2	232322392	232322392	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232322392T>G	ENST00000322723.4	-	9	1649	c.1409A>C	c.(1408-1410)aAt>aCt	p.N470T		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	470					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATAGTCTTGATTTTGACCTTT	0.418000													38	61					0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9134277	9134277	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:9134277A>C	ENST00000400033.1	+	9	876	c.759A>C	c.(757-759)taA>taC	p.*253Y	RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Nonstop_Mutation_p.*250Y|RP11-143J12.2_ENST00000582375.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	0					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CAGGCCTTTAATTTATATTGA	0.403000													15	29					0	0	1	0	0
MAPRE1	22919	broad.mit.edu	37	20	31424467	31424467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31424467G>T	ENST00000375571.5	+	4	434	c.295G>T	c.(295-297)Gga>Tga	p.G99*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ATTAGTAAAAGGAAAGTTTCA	0.393000													11	30					2.27111e-07	2.60515e-07	1	1	0
SAP130	79595	broad.mit.edu	37	2	128783864	128783864	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128783864C>A	ENST00000357702.5	-	2	212	c.81G>T	c.(79-81)atG>atT	p.M27I	SAP130_ENST00000259234.6_Start_Codon_SNP_p.M1I|SAP130_ENST00000259235.3_Missense_Mutation_p.M27I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	27					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTTGAGAACTCATTTCCACCT	0.423000													20	48					4.35082e-09	5.20082e-09	1	1	0
SLC35G5	83650	broad.mit.edu	37	8	11189077	11189077	+	Silent	SNP	C	C	T	rs143735406	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11189077C>T	ENST00000382435.4	+	1	681	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	154	DUF6 1.					integral to membrane											GCCAGGGTCTCGGTGGCTACG	0.587000													103	141					0	0	1	0	0
GSTT2	2953	broad.mit.edu	37	22	24323182	24323182	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24323182G>A	ENST00000215780.5	+	2	206	c.156G>A	c.(154-156)ggG>ggA	p.G52G	GSTT2_ENST00000402588.3_Silent_p.G52G	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	52	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						ACAGCCTGGGGAAACTGCCGA	0.542000													27	90					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060931	48060931	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48060931C>T	ENST00000316364.5	+	18	2358	c.1919C>T	c.(1918-1920)tCg>tTg	p.S640L	SEMA6D_ENST00000389433.2_Missense_Mutation_p.S621L|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S640L|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558816.1_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	640					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATCCTTTATCGGGTATCCCA	0.448000													4	74					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44393877	44393877	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44393877G>A	ENST00000371477.3	+	12	1906	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	536	Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAATGAAACGAATGCATAAA	0.348000													13	32					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661203	35661203	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35661203C>T	ENST00000216106.5	+	5	950	c.822C>T	c.(820-822)ttC>ttT	p.F274F	HMGXB4_ENST00000444518.2_Silent_p.F165F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	274					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	p.F274F(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCCAGTTCGCAGAGTCCC	0.522000													23	47					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816422	156816422	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156816422G>A	ENST00000347377.6	+	29	3864	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	CYFIP2_ENST00000522463.1_Missense_Mutation_p.E949K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E1070K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E844K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1170K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E1145K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E1119K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1170					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)			GGGAACCAACGAGTTCACAGC	0.597000													15	21					0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74687176	74687176	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74687176C>T	ENST00000393972.3	+	4	654	c.451_splice	c.e4+1	p.R151_splice	WBP1_ENST00000409737.1_Splice_Site_p.R114_splice|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Splice_Site_p.R117_splice			Q96G27	WBP1_HUMAN	WW domain binding protein 1	117							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTTGACCTTCGTGAGTGACT	0.527000													27	69					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23547091	23547091	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23547091T>C	ENST00000297071.4	-	5	805	c.589A>G	c.(589-591)Acc>Gcc	p.T197A	TRA2A_ENST00000538367.1_Missense_Mutation_p.T96A|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Missense_Mutation_p.T96A	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	197	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCTCTCTTGGTTATAGAATAA	0.418000													28	72					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3018701	3018701	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3018701C>T	ENST00000448120.2	+	2	99	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TULP3_ENST00000397132.2_Silent_p.F16F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	16					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACAGTGTCTTCCATGAAGAAA	0.358000													32	61					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109238722	109238722	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109238722T>G	ENST00000370021.1	+	4	707	c.70T>G	c.(70-72)Tta>Gta	p.L24V	PRPF38B_ENST00000370025.4_Missense_Mutation_p.L135V|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L135V			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	135					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTTATACAAATTATTTACCCT	0.363000													4	47					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154481002	154481002	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:154481002C>A	ENST00000265198.4	-	12	1430	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Missense_Mutation_p.K397N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K426N|IPCEF1_ENST00000422970.2_Missense_Mutation_p.K426N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AAGGTGATTTCTTGAGTTCCT	0.463000													6	32					0.217242	0.218251	1	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864143	31864143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31864143C>A	ENST00000334063.4	-	1	132	c.133G>T	c.(133-135)Gga>Tga	p.G45*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	45						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAGCCATATCCGTAGCCTCCA	0.567000													143	245					1.13124e-70	1.64409e-70	1	1	0
ZNF549	256051	broad.mit.edu	37	19	58049766	58049766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049766G>T	ENST00000376233.3	+	4	1575	c.1394G>T	c.(1393-1395)aGa>aTa	p.R465I	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R452I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGACACCAGAGAATTCACACT	0.428000													21	39					6.33239e-15	8.29613e-15	1	1	0
FGF7	2252	broad.mit.edu	37	15	49775360	49775360	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49775360T>G	ENST00000267843.4	+	3	910	c.299T>G	c.(298-300)aTc>aGc	p.I100S	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	100					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ATCATGGAAATCAGGACAGTG	0.373000													14	44					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121456952	121456952	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121456952G>A	ENST00000260197.7	+	27	3857	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	SORL1_ENST00000532694.1_Missense_Mutation_p.R89H|SORL1_ENST00000525532.1_Missense_Mutation_p.R187H|SORL1_ENST00000534286.1_Missense_Mutation_p.R153H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1243	LDL-receptor class A 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AATGGATTCCGCTGCCCAAAC	0.507000													39	74					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388279	48388279	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48388279C>T	ENST00000224600.4	-	1	2712	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	867	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCAATGACCGTGGCCCGC	0.632000													10	28					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22349699	22349699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:22349699C>T	ENST00000405243.1	-	4	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGACCCAACGCAGCTCCTC	0.438000													6	22					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62931428	62931428	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:62931428C>T	ENST00000393630.3	+	16	2451	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	MON2_ENST00000552115.1_Missense_Mutation_p.A687V|MON2_ENST00000393632.2_Missense_Mutation_p.A687V|MON2_ENST00000552738.1_Missense_Mutation_p.A664V|MON2_ENST00000393629.2_Missense_Mutation_p.A687V|MON2_ENST00000280379.6_Missense_Mutation_p.A687V|MON2_ENST00000546600.1_Missense_Mutation_p.A687V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	687					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTAACTTGGCGCATTGCCAT	0.338000													24	49					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673581	30673581	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30673581G>A	ENST00000376406.3	-	10	4026	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S	MDC1_ENST00000376405.2_Missense_Mutation_p.P863S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1127	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GAAGGGTGGGGCTCAGGGGCA	0.567000								Other conserved DNA damage response genes					6	220					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60268548	60268548	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60268548A>G	ENST00000016913.4	+	3	364	c.307A>G	c.(307-309)Att>Gtt	p.I103V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	103						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGATGCACATTGGTTTTGG	0.373000													48	124					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418532	178418532	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178418532C>A	ENST00000231188.5	-	3	928	c.750G>T	c.(748-750)aaG>aaT	p.K250N	GRM6_ENST00000517717.1_Missense_Mutation_p.K250N	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	250					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)		CCCTGGGAATCTTGATAGACT	0.602000													5	248					1	1	1	1	0
GRK4	2868	broad.mit.edu	37	4	3011413	3011413	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3011413T>C	ENST00000398052.4	+	7	918	c.575T>C	c.(574-576)gTt>gCt	p.V192A	GRK4_ENST00000398051.4_Missense_Mutation_p.V160A|GRK4_ENST00000345167.6_Missense_Mutation_p.V160A|GRK4_ENST00000504933.1_Missense_Mutation_p.V192A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	192	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATTACAGAGTTCTAGGAAAA	0.443000													8	54					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020105	56020105	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020105C>T	ENST00000303059.3	+	1	430	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGAATGTTTTCTCTTGGCTGC	0.403000													43	91					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92158959	92158959	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92158959T>G	ENST00000481551.1	+	2	322	c.281T>G	c.(280-282)tTt>tGt	p.F94C	RBM48_ENST00000265732.5_Missense_Mutation_p.F94C			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	94							nucleotide binding										CTTATTAAATTTATGAACTTA	0.348000													8	17					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207827337	207827337	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207827337T>C	ENST00000272852.3	+	7	822	c.777_splice	c.e7+1	p.M259_splice		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	259					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CACCCAGAAATGGTGAGTCCA	0.443000													26	41					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160124942	160124942	+	Silent	SNP	C	C	T	rs140019547	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160124942C>T	ENST00000368081.4	+	3	786	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	105					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.F105F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAACTGTTCGGAGGCTTCT	0.512000													27	53					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88400658	88400658	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88400658G>T	ENST00000418378.1	-	11	2461	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	SPARCL1_ENST00000282470.6_Missense_Mutation_p.F630L|SPARCL1_ENST00000503414.1_Missense_Mutation_p.F505L	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	630	EF-hand.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ACTCCTCAAAGAAACGGGTTA	0.463000													28	78					2.41591e-17	3.2383e-17	1	1	0
MAP4K3	8491	broad.mit.edu	37	2	39499439	39499439	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39499439T>C	ENST00000263881.3	-	26	2282	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	653	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGTATTCTGTCAGGGAGTTT	0.368000													8	36					0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49946481	49946481	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49946481T>C	ENST00000417270.1	-	7	2351	c.1658A>G	c.(1657-1659)gAc>gGc	p.D553G	MON1A_ENST00000455683.2_Missense_Mutation_p.D480G|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.D642G			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	545							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAAGAGGCGGTCTTCCTCTTT	0.582000													16	21					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152774635	152774635	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152774635A>G	ENST00000495090.2	-	12	1822	c.1814T>C	c.(1813-1815)tTa>tCa	p.L605S	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000448038.1_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7274					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGAATTTCTAAATTTCTCTT	0.368000										HNSCC(10;0.0054)			29	45					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892857	88892857	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88892857G>A	ENST00000556553.1	+	6	1117	c.558G>A	c.(556-558)tcG>tcA	p.S186S	SPATA7_ENST00000045347.7_Silent_p.S218S|SPATA7_ENST00000393545.4_Silent_p.S218S|SPATA7_ENST00000356583.5_Silent_p.S186S			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	218					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAGTCATTTCGAAAGCACCCA	0.468000													27	51					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374609	180374609	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180374609C>A	ENST00000231229.4	+	4	1005	c.771C>A	c.(769-771)ttC>ttA	p.F257L	BTNL8_ENST00000400707.3_Missense_Mutation_p.F132L|BTNL8_ENST00000511704.1_Missense_Mutation_p.F141L|BTNL8_ENST00000508408.1_Missense_Mutation_p.F257L|BTNL8_ENST00000340184.4_Missense_Mutation_p.F257L|BTNL8_ENST00000533815.2_Missense_Mutation_p.F73L|BTNL8_ENST00000505126.1_Missense_Mutation_p.F50L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	257						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGATTTTCTTCTCCAAAT	0.488000													11	238					7.03913e-09	8.36985e-09	1	1	0
NDUFA11	126328	broad.mit.edu	37	19	5894850	5894850	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5894850A>C	ENST00000308961.4	-	4	376	c.329T>G	c.(328-330)aTt>aGt	p.I110S	NDUFA11_ENST00000418389.2_Intron|AC024592.12_ENST00000586349.1_Intron|FUT5_ENST00000252675.5_Intron|NDUFA11_ENST00000592634.1_3'UTR	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	110					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)|lung(1)	2					NADH(DB00157)	GGCGGCGCCAATCCCGTAGTT	0.682000													4	10					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46995498	46995498	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46995498C>T	ENST00000371253.2	-	3	285		c.e3-1		GPR110_ENST00000449332.2_Intron|GPR110_ENST00000371243.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						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						CATCATTTTTCTGTTAAAAAG	0.343000													8	36					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125981	6125981	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6125981T>G	ENST00000261405.5	-	29	5363	c.5109A>C	c.(5107-5109)ccA>ccC	p.P1703P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1703	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)	AATAAGAAGCTGGGAAACTGG	0.522000													30	102					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64421617	64421617	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64421617A>C	ENST00000358025.3	+	8	1001	c.771A>C	c.(769-771)agA>agC	p.R257S	SYNE2_ENST00000554584.1_Missense_Mutation_p.R257S|SYNE2_ENST00000341472.5_Missense_Mutation_p.R257S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.R257S|SYNE2_ENST00000344113.4_Missense_Mutation_p.R257S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	257	Actin-binding.|CH 2.				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)		AAATCCCCAGATTGCTGGAAC	0.353000													8	34					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869289	22869289	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869289A>G	ENST00000302097.3	-	2	918	c.666T>C	c.(664-666)aaT>aaC	p.N222N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTACTCCATTCTGAACAT	0.438000													30	60					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63574754	63574754	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:63574754T>G	ENST00000374852.3	-	4	438	c.371A>C	c.(370-372)gAa>gCa	p.E124A	MTMR8_ENST00000453546.1_Missense_Mutation_p.E124A	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	124						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCATCCACTTTCCCTCATCTC	0.393000													13	28					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10569349	10569349	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10569349A>C	ENST00000396439.2	-	5	548	c.504T>G	c.(502-504)atT>atG	p.I168M	NKG2-E_ENST00000539033.1_Missense_Mutation_p.I168M|KLRC3_ENST00000381903.2_Missense_Mutation_p.I168M|KLRC3_ENST00000381904.2_Missense_Mutation_p.I168M	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGGAAGGTAAAATGCTGGCCA	0.299000													4	25					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099396	133099396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133099396C>T	ENST00000515826.1	+	3	964	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R281C|TMEM108_ENST00000321871.6_Missense_Mutation_p.R281C			Q6UXF1	TM108_HUMAN	transmembrane protein 108	281						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGGCCTTCGCAGAGCAGC	0.647000													23	29					0	0	1	0	0
IGHV4OR15-8	0	broad.mit.edu	37	15	22472986	22472986	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22472986C>A	ENST00000557788.2	-	0	284																											AGAACTGGTTCTTGGACTTGT	0.562000													42	533					2.47872e-24	3.47838e-24	1	1	0
EFCAB5	374786	broad.mit.edu	37	17	28405274	28405274	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28405274G>A	ENST00000394835.3	+	15	2971	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	927							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTGGTCACGAAGTGAGATT	0.413000													18	47					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170591663	170591663	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170591663A>C	ENST00000392647.2	+	2	383	c.139A>C	c.(139-141)Att>Ctt	p.I47L	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I47L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	47	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTCAGGCATAATTTTCCATTG	0.343000													31	54					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143798010	143798010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:143798010C>T	ENST00000264170.4	+	13	1313	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KYNU_ENST00000409512.1_Missense_Mutation_p.A352V	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	352					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)	TTTAAGCAAGCGACAATGAAG	0.338000													12	22					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46679328	46679328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46679328A>C	ENST00000274793.7	-	7	764	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	PLA2G7_ENST00000541026.1_Missense_Mutation_p.F63V|PLA2G7_ENST00000538237.1_Missense_Mutation_p.F145V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F190V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	190					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGTCCTTGAAATAGTAAGTT	0.413000													44	74					0	0	1	0	0
SP1	0	broad.mit.edu	37	12	53777010	53777010	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53777010A>C	ENST00000426431.2	+	3	1318	c.1258A>C	c.(1258-1260)Act>Cct	p.T420P	SP1_ENST00000327443.4_Missense_Mutation_p.T427P	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	427	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCTTTACAACTCAAGCCAT	0.557000													50	87					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77752766	77752766	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77752766A>T	ENST00000344720.5	+	2	1149	c.123A>T	c.(121-123)ttA>ttT	p.L41F	AK5_ENST00000354567.2_Missense_Mutation_p.L67F|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	67					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGAAGACCTTACCTCCACTAA	0.363000													5	61					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714484	38714484	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714484T>G	ENST00000308742.4	+	3	1207	c.891T>G	c.(889-891)ttT>ttG	p.F297L	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	297					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTTTTCATTTACTCTCTTTT	0.348000													30	85					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077608	146077608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146077608C>A	ENST00000394413.3	-	3	838	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.E93*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.E96*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.E148*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.E156*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	90					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGATTTTTTCTTCTATTTCT	0.388000													19	41					5.35267e-07	6.09026e-07	1	1	0
RBM44	375316	broad.mit.edu	37	2	238725726	238725726	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238725726A>C	ENST00000316997.4	+	3	299	c.167A>C	c.(166-168)aAt>aCt	p.N56T	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.N56T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	55							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATGACTGGAATTCTTCGACA	0.308000													15	40					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858222	101858222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101858222G>T	ENST00000604957.1	+	1	3775	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E385*|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E385*	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	385							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTCTTCCGAAGAACCAAAATC	0.418000													5	86					0.000602214	0.000636035	1	1	0
RYR3	6263	broad.mit.edu	37	15	34115220	34115220	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34115220G>T	ENST00000389232.4	+	81	11089	c.11019G>T	c.(11017-11019)gaG>gaT	p.E3673D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3668D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3673					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTAAAGGAGAAAAAGGATG	0.423000													15	49					6.31663e-08	7.35827e-08	1	1	0
RWDD2B	10069	broad.mit.edu	37	21	30380935	30380935	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30380935G>A	ENST00000493196.1	-	2	175	c.75C>T	c.(73-75)taC>taT	p.Y25Y	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	25										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTGGACATGTGTAAGTTTCTA	0.403000													11	16					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324611	9324611	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9324611G>A	ENST00000377403.2	+	5	2361	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	H6PD_ENST00000602477.1_Missense_Mutation_p.D698N	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	687	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|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;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGCAGCTTCGACCTGGTGCT	0.667000													46	77					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45763501	45763501	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45763501C>T	ENST00000389061.5	+	9	893	c.689C>T	c.(688-690)tCg>tTg	p.S230L	SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	230	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GGAATTGATTCGGAAGGCCAT	0.353000													14	18					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461091	70461091	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70461091G>T	ENST00000373998.1	-	24	4567	c.3870C>A	c.(3868-3870)ttC>ttA	p.F1290L	ZMYM3_ENST00000373984.3_Missense_Mutation_p.F1212L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1302L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1302L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1304L|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1302					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGAGATAGAATTCATAGA	0.517000													21	34					1.55795e-14	2.03067e-14	1	1	0
RFPL4B	442247	broad.mit.edu	37	6	112671559	112671559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112671559G>T	ENST00000441065.2	+	3	961	c.649G>T	c.(649-651)Gaa>Taa	p.E217*		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	217	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGACTTAGAAGAAATCCAGTT	0.448000													25	33					6.32553e-13	8.04352e-13	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27481617	27481617	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:27481617G>T	ENST00000356183.4	-	31	4641	c.4626C>A	c.(4624-4626)ttC>ttA	p.F1542L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F1542L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1542						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTTGAAAGAGAAACGATCAG	0.522000													61	138					5.82218e-30	8.31339e-30	1	1	0
ASB6	140459	broad.mit.edu	37	9	132400459	132400459	+	Missense_Mutation	SNP	G	G	T	rs113686617	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:132400459G>T	ENST00000277458.4	-	6	1041	c.876C>A	c.(874-876)caC>caA	p.H292Q	ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Missense_Mutation_p.H213Q	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	292					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AGGACGCACCGTGCAGGGAGC	0.597000													30	40					3.73988e-18	5.05028e-18	1	1	0
EGF	1950	broad.mit.edu	37	4	110864438	110864438	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110864438C>A	ENST00000265171.5	+	3	801	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	EGF_ENST00000509793.1_Missense_Mutation_p.S119Y|EGF_ENST00000503392.1_Missense_Mutation_p.S119Y|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	119					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAAAATGTTTCTGGAATGGCA	0.264000													17	39					3.99206e-14	5.17458e-14	1	1	0
C7orf50	84310	broad.mit.edu	37	7	1037352	1037352	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:1037352G>A	ENST00000397098.3	-	5	1420	c.494C>T	c.(493-495)gCc>gTc	p.A165V	C7orf50_ENST00000397100.2_Missense_Mutation_p.A165V|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.A165V			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	165							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCGCATCAGGGCTTCCGCCTT	0.677000													25	33					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770552	53770552	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770552C>A	ENST00000311170.4	-	1	420	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	123					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCTTGGGGGCTTTCTCTTTA	0.507000										HNSCC(26;0.072)			11	51					0.00136819	0.00143372	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71216702	71216702	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71216702G>A	ENST00000554752.2	-	4	1097	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	MAP3K9_ENST00000381250.4_Silent_p.L366L|MAP3K9_ENST00000554146.1_Silent_p.L103L|MAP3K9_ENST00000553414.1_Silent_p.L60L|MAP3K9_ENST00000555993.2_Silent_p.L366L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	366	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TAGGAAGGGCGAGTTTGTTCA	0.507000													4	93					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734383	20734383	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20734383A>C	ENST00000382148.3	-	6	824	c.488T>G	c.(487-489)aTa>aGa	p.I163R	KCNIP4_ENST00000382152.2_Missense_Mutation_p.I188R|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I154R|KCNIP4_ENST00000509207.1_Missense_Mutation_p.I126R|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.I167R|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I126R|KCNIP4_ENST00000382149.4_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	188	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CATATCGTATATTGCTTTCAT	0.373000													9	19					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509887	24509887	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24509887G>A	ENST00000264463.4	-	7	1551	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	348	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCTGCTTCGACTTTCAGAG	0.378000										HNSCC(23;0.051)			12	18					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86985420	86985420	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86985420G>A	ENST00000395169.3	-	11	1715	c.996_splice	c.e11+1	p.A332_splice	MAPK10_ENST00000449047.2_Splice_Site_p.A225_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A225_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A370_splice|MAPK10_ENST00000395166.1_Splice_Site_p.A332_splice|MAPK10_ENST00000359221.3_Splice_Site_p.A370_splice|MAPK10_ENST00000395157.3_Splice_Site_p.A225_splice|MAPK10_ENST00000395161.2_Splice_Site_p.A370_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	370	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ATTTCTTACCGCCTCCACTTC	0.433000													24	53					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762110	53762110	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762110G>A	ENST00000341702.3	+	1	566	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	161					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.G161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AATTATTTTGGATGCAAATTT	0.458000													18	33					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039482	55039482	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55039482G>A	ENST00000370862.3	+	1	433	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	33					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)			AAACCCCACCGACTATGACGA	0.537000													48	97					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110618313	110618313	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110618313C>T	ENST00000242591.5	+	12	1781	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	IFT81_ENST00000552912.1_Silent_p.F425F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	425					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAGCTGAATTCGGTCTTTTGC	0.323000													5	16					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768375	45768375	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45768375G>T	ENST00000405872.1	-	2	731	c.328C>A	c.(328-330)Ctt>Att	p.L110I	KCTD4_ENST00000379108.1_Missense_Mutation_p.L110I|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	110	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TCTTGTGCAAGAAGTTGATTT	0.443000													30	54					1.2476e-16	1.66396e-16	1	1	0
KCNA6	3742	broad.mit.edu	37	12	4920773	4920773	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4920773G>T	ENST00000433855.1	+	1	2432	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	KCNA6_ENST00000280684.3_Missense_Mutation_p.E522D	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	522						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCTATGCAGAGAAAAGAATGC	0.567000										HNSCC(72;0.22)			33	73					1.04594e-18	1.41924e-18	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146818172	146818172	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:146818172C>A	ENST00000361727.3	+	6	1372	c.856C>A	c.(856-858)Cgg>Agg	p.R286R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGCCAGGGGCGGAGCATTAA	0.522000										HNSCC(39;0.1)			15	56					7.93312e-07	8.98086e-07	1	1	0
USP47	55031	broad.mit.edu	37	11	11970032	11970032	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11970032T>G	ENST00000339865.5	+	21	3834	c.3071T>G	c.(3070-3072)aTt>aGt	p.I1024S	USP47_ENST00000399455.2_Missense_Mutation_p.I1112S|USP47_ENST00000527733.1_Missense_Mutation_p.I1092S|USP47_ENST00000539466.1_De_novo_Start_InFrame	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1112					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAGATTACAATTAGACTGGGG	0.308000													9	28					0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92821901	92821901	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:92821901C>T	ENST00000378487.2	-	1	23	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E8K	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	8										large_intestine(1)|lung(7)	8						tccttaagttcgttgtgcccc	0.423000													16	24					0	0	1	0	0
TMEM68	137695	broad.mit.edu	37	8	56668917	56668917	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56668917T>G	ENST00000434581.2	-	4	578	c.379A>C	c.(379-381)Att>Ctt	p.I127L	TMEM68_ENST00000523073.1_Missense_Mutation_p.I13L|TMEM68_ENST00000334667.2_Missense_Mutation_p.I127L|TMEM68_ENST00000519784.1_Missense_Mutation_p.I13L			Q96MH6	TMM68_HUMAN	transmembrane protein 68	127						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TGATAAAAAATTATAAGTGCT	0.303000													12	29					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360050	71360050	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360050A>C	ENST00000244230.2	+	2	464	c.112A>C	c.(112-114)Aag>Cag	p.K38Q	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.K38Q|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	38					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATTGGCATCAAAGTTCACTTC	0.313000													10	30					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151202492	151202492	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151202492G>T	ENST00000274576.4	-	9	1384	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	GLRA1_ENST00000545569.1_Missense_Mutation_p.F281L|GLRA1_ENST00000455880.2_Missense_Mutation_p.F372L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	372					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATAGGCAGAGAAGTTAAAGC	0.547000													18	40					5.03518e-11	6.23768e-11	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181727969	181727969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181727969G>T	ENST00000526775.1	+	31	4678	c.4513G>T	c.(4513-4515)Gaa>Taa	p.E1505*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1456*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E1475*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1131*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1524					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTTTCCCTGGAATGTGTCCT	0.478000													22	37					0.000375601	0.000399622	1	1	0
F5	2153	broad.mit.edu	37	1	169511762	169511762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169511762C>A	ENST00000367796.3	-	13	2782	c.2581G>T	c.(2581-2583)Gaa>Taa	p.E861*	F5_ENST00000367797.3_Nonsense_Mutation_p.E856*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	856	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTTTGAATTCTCCAGCACCA	0.448000													72	108					6.5469e-37	9.42237e-37	1	1	0
CAPRIN1	4076	broad.mit.edu	37	11	34093499	34093499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:34093499G>T	ENST00000341394.4	+	4	520	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.E30*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.E111*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	111					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GTTTGCAAAAGAATTACAGAG	0.333000													12	8					0.000151284	0.00016287	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125592847	125592847	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:125592847G>A	ENST00000504087.1	-	4	2622	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R350W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	529										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATAATGTCCGAATGGAATCC	0.418000													39	63					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936534	178936534	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178936534C>A	ENST00000286063.5	-	1	948	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	211					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTGGAGATATCTTTGACCAAT	0.478000									Primary Pigmented Nodular Adrenocortical Disease, Familial				37	70					7.04047e-22	9.7605e-22	1	1	0
NPTX2	4885	broad.mit.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	410	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.V410V(1)		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)			ACAATAACGTCGATGTGTTCG	0.582000													4	10					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3729237	3729237	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3729237A>T	ENST00000252505.3	+	6	474	c.312A>T	c.(310-312)gaA>gaT	p.E104D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	123							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AACTACCAGAAATCCCAGAAA	0.443000										HNSCC(21;0.051)			12	16					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44310906	44310906	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44310906G>A	ENST00000288390.2	+	1	421	c.74G>A	c.(73-75)gGc>gAc	p.G25D	SPATS1_ENST00000323108.8_Missense_Mutation_p.G25D			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	25										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGACCTGCGGCAGACAGCTG	0.517000													23	49					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187451396	187451396	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187451396T>C	ENST00000406870.2	-	3	452	c.86A>G	c.(85-87)gAc>gGc	p.D29G	BCL6_ENST00000450123.2_Missense_Mutation_p.D29G|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.S72P|BCL6_ENST00000232014.4_Missense_Mutation_p.D29G	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	29					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGTCAAGATGTCTCGACTCCG	0.512000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								42	96					0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	65016598	65016598	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:65016598G>A	ENST00000381007.4	-	2	272	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	13							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CGTAAGAAACGAATAACTGCA	0.328000													11	23					0	0	1	0	0
SYCP3	50511	broad.mit.edu	37	12	102122937	102122937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102122937C>A	ENST00000392927.3	-	8	738	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E203*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E203*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	203	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	p.E203K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTAAATTCATTTTGTGCA	0.279000													6	17					0.00116845	0.00122532	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128599822	128599822	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128599822T>G	ENST00000371122.4	-	22	2945	c.2817_splice	c.e22+1	p.K939_splice	SMARCA1_ENST00000371123.1_Splice_Site_p.K927_splice|SMARCA1_ENST00000371121.3_Splice_Site_p.K927_splice	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	939					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATAGTACTTTGGCATCCAG	0.333000													12	82					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766094	13766094	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13766094C>T	ENST00000265104.4	-	59	10196	c.10092G>A	c.(10090-10092)caG>caA	p.Q3364Q	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3364	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)					CCTGTAAGTTCTGTAAAAAGT	0.408000									Kartagener syndrome				45	69					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183102561	183102561	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183102561T>C	ENST00000258341.4	+	22	3982	c.3725T>C	c.(3724-3726)aTc>aCc	p.I1242T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1242	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGAAGAACATCTCACAGGAT	0.443000													45	91					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539012	187539012	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187539012C>T	ENST00000441802.2	-	10	8937	c.8728G>A	c.(8728-8730)Gat>Aat	p.D2910N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2910	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTTGACATCGGTGACGGTA	0.478000										HNSCC(5;0.00058)			12	71					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55613398	55613398	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55613398C>T	ENST00000294383.6	-	18	2041	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q	USP24_ENST00000407756.1_Missense_Mutation_p.R521Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	681					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGCTGCAAGCCGATGACAAGC	0.458000													7	15					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20060638	20060638	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20060638G>T	ENST00000379651.3	-	7	884	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	MAP7D2_ENST00000543767.1_Missense_Mutation_p.S174Y|MAP7D2_ENST00000452324.3_Missense_Mutation_p.S237Y|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S244Y|MAP7D2_ENST00000379643.5_Missense_Mutation_p.S330Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	289										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CACAGGAGAAGATGGTCTCTT	0.502000													84	147					3.49902e-48	5.0748e-48	1	1	0
PCDHGA2	0	broad.mit.edu	37	5	140720038	140720038	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140720038C>T	ENST00000394576.2	+	1	1500	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGGCACCCTTATCCTCTT	0.517000													41	95					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24836377	24836377	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24836377T>A	ENST00000413692.2	+	1	261	c.117T>A	c.(115-117)ttT>ttA	p.F39L	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.F39L	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	0					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGACTTTCCCGGAAACT	0.627000													13	40					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9676860	9676860	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:9676860T>G	ENST00000310823.3	-	3	510	c.328A>C	c.(328-330)Aaa>Caa	p.K110Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K110Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	110					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCCTGCCATTTTACAGTGTAC	0.418000													28	48					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38595795	38595795	+	Silent	SNP	G	G	A	rs141789366	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38595795G>A	ENST00000413689.1	-	27	4981	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	SCN5A_ENST00000333535.4_Silent_p.F1596F|SCN5A_ENST00000423572.2_Silent_p.F1595F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000450102.2_Silent_p.F1542F|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000464652.1_5'UTR	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1596					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.F1596F(2)		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)	TGACAACCACGAAGTCGAAGA	0.567000													28	44					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37325529	37325529	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:37325529G>A	ENST00000373091.3	-	6	892	c.876C>T	c.(874-876)gtC>gtT	p.V292V	GRIK3_ENST00000373093.4_Silent_p.V292V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	292					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAATGGCCGAGACGTGTGGGT	0.587000													36	65					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100661	93100661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93100661C>A	ENST00000544406.2	+	2	520	c.254C>A	c.(253-255)tCg>tAg	p.S85*	C12orf74_ENST00000397833.3_Nonsense_Mutation_p.S85*			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	85										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TGTTACCTTTCGAAGAGCCTG	0.562000													21	60					1.2644e-06	1.4261e-06	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181724489	181724489	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181724489C>A	ENST00000526775.1	+	27	4053	c.3888C>A	c.(3886-3888)ttC>ttA	p.F1296L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1315L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1315					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1315L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGAAAGTTCTTTTATTGCA	0.448000													69	115					2.165e-29	3.08197e-29	1	1	0
MSH6	2956	broad.mit.edu	37	2	48026710	48026710	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48026710G>T	ENST00000234420.4	+	4	1740	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	MSH6_ENST00000538136.1_Missense_Mutation_p.D228Y|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.D400Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	530					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGAAGGTGATCCCTCTGA	0.428000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				26	42					9.04412e-07	1.02139e-06	1	1	0
ANK1	286	broad.mit.edu	37	8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41530024C>A	ENST00000396942.1	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1648	55 kDa regulatory domain.				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)			CTGGCAGCTTCTCTTCTGACC	0.537000													86	130					2.00703e-41	2.9019e-41	1	1	0
CADPS	8618	broad.mit.edu	37	3	62535683	62535683	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62535683G>A	ENST00000383710.4	-	11	2210	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CADPS_ENST00000283269.9_Missense_Mutation_p.R621W|CADPS_ENST00000357948.3_Missense_Mutation_p.R621W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	621	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCGTGGCCCGATACATGGCC	0.577000													40	76					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35807134	35807134	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35807134C>T	ENST00000342694.2	+	17	2889	c.2634C>T	c.(2632-2634)acC>acT	p.T878T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	878	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGAGAGCACCCCCATGCAGG	0.522000													13	42					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164725732	164725732	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164725732T>G	ENST00000264382.3	-	36	4296	c.4234A>C	c.(4234-4236)Aat>Cat	p.N1412H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1412	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)	AGTTCGTCATTTCTGCATTGA	0.259000										HNSCC(35;0.089)			12	33					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66434631	66434631	+	Missense_Mutation	SNP	C	C	T	rs140303911		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:66434631C>T	ENST00000383703.3	-	15	2530	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E619K			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	619	Ig-like C2-type 2.					integral to membrane		p.E619K(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCAGCACATTCGAGGCGGGCC	0.582000													48	100					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926769	31926769	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31926769G>T	ENST00000300870.10	+	4	1408	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	400					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCAGAGAATTCACACT	0.368000													16	41					0.00316338	0.00328853	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71233777	71233777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71233777C>A	ENST00000418814.2	+	14	1825	c.1211C>A	c.(1210-1212)tCa>tAa	p.S404*	FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S387*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S387*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	404										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GATCTCAATTCATTACCTATA	0.328000													9	12					0.000274275	0.000292037	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375128	70375128	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70375128G>A	ENST00000374051.3	+	4	904	c.582G>A	c.(580-582)ggG>ggA	p.G194G	NLGN3_ENST00000536169.1_Silent_p.G174G|NLGN3_ENST00000358741.3_Silent_p.G214G|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	214					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACATGGAAGGGACAGGCAACA	0.552000													29	55					0	0	1	0	0
NPFF	8620	broad.mit.edu	37	12	53901163	53901163	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53901163G>T	ENST00000267017.3	-	1	259	c.96C>A	c.(94-96)ctC>ctA	p.L32L	RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	32					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCACCGCGGAGAGCTGGTCTT	0.567000													34	54					1.36615e-20	1.87316e-20	1	1	0
SEC61A1	29927	broad.mit.edu	37	3	127785899	127785899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:127785899C>T	ENST00000243253.3	+	9	1064	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q300*|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q174*	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	294					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CATCATCCTGCAGTCTGCCCT	0.557000													18	94					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17153397	17153397	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17153397C>A	ENST00000357277.3	+	16	1847	c.1676C>A	c.(1675-1677)tCt>tAt	p.S559Y	REPS2_ENST00000303843.7_Missense_Mutation_p.S558Y|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.S358Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	559	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)					GTACTGTATTCTCAGCCACCA	0.423000													99	181					3.11363e-52	4.52285e-52	1	1	0
AIM1	202	broad.mit.edu	37	6	106968877	106968877	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106968877C>A	ENST00000369066.3	+	2	3057	c.2570C>A	c.(2569-2571)aCt>aAt	p.T857N		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	857							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCAGTCAACACTATGACCACG	0.443000													31	56					5.45727e-16	7.22369e-16	1	1	0
CYP20A1	57404	broad.mit.edu	37	2	204154520	204154520	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204154520G>A	ENST00000356079.4	+	10	1127	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R343Q	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	335						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAACTGTTCGAACTGCCAAA	0.323000													23	26					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169086427	169086427	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169086427T>C	ENST00000359299.3	+	6	616	c.430T>C	c.(430-432)Tat>Cat	p.Y144H		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	144							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGAGGACATTTATTCAGAGAC	0.333000													13	24					0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8873895	8873895	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:8873895A>G	ENST00000523898.1	+	5	1241	c.562A>G	c.(562-564)Agt>Ggt	p.S188G	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.S188G|ERI1_ENST00000250263.7_Missense_Mutation_p.S188G			Q8IV48	ERI1_HUMAN	exoribonuclease 1	188	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TTTCTGCATCAGTCTAACTGG	0.318000													22	41					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179667	59179667	+	Silent	SNP	G	G	A	rs148004381	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59179667G>A	ENST00000380516.2	-	18	2535	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	SLTM_ENST00000536328.1_Silent_p.F385F	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	816	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATATCTTTCGAAGCTTGGAT	0.448000													20	41					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135961190	135961190	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135961190C>A	ENST00000562646.1	-	3	356	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.D68Y|RBMX_ENST00000431446.3_Missense_Mutation_p.D68Y|RBMX_ENST00000565438.1_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	68	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCATTCATGTCTCTGGCTGCA	0.413000													34	75					4.34311e-12	5.44389e-12	1	1	0
TSC22D3	1831	broad.mit.edu	37	X	107018442	107018442	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107018442G>A	ENST00000372383.4	-	1	575	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70W|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70W|TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2W	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	0							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						GAATCCTGCCGCATTATGCTG	0.562000													43	59					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87043015	87043015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87043015C>T	ENST00000265723.4	-	22	2812	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E901K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E901K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E901K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E901K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	901	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.E901K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTAATATTTTCTATTGCCTCT	0.343000													20	39					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44685303	44685303	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44685303G>T	ENST00000396058.1	+	5	2848	c.2681G>T	c.(2680-2682)aGa>aTa	p.R894I	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R894I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	894					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTACATCAAAGAATCCATACT	0.358000													36	62					4.62619e-21	6.37263e-21	1	1	0
UACA	55075	broad.mit.edu	37	15	70960671	70960671	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:70960671T>A	ENST00000322954.6	-	16	2537	c.2352A>T	c.(2350-2352)aaA>aaT	p.K784N	UACA_ENST00000539319.1_Missense_Mutation_p.K675N|UACA_ENST00000560441.1_Missense_Mutation_p.K769N|UACA_ENST00000379983.2_Missense_Mutation_p.K771N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	784						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCAGTAGCAATTTCTCCATTT	0.328000													7	21					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59764207	59764207	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59764207T>C	ENST00000361421.1	-	4	789	c.569A>G	c.(568-570)cAa>cGa	p.Q190R		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	190						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)				CAAACCAAGTTGAGCACTTAG	0.522000													13	27					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176132020	176132020	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132020C>A	ENST00000367669.3	-	5	1261	c.747G>T	c.(745-747)aaG>aaT	p.K249N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K245N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	249					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGTTGTTTCTTCTTCTGCA	0.338000													11	21					0.000673444	0.000709932	1	1	0
COBL	23242	broad.mit.edu	37	7	51111094	51111094	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:51111094C>A	ENST00000395542.2	-	10	1822	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	COBL_ENST00000265136.7_Missense_Mutation_p.E464D			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	464										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GATGTGAGTTCTCAGAGCCAT	0.562000													7	64					0.00198382	0.00207034	1	1	0
TMEM57	55219	broad.mit.edu	37	1	25783143	25783143	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25783143G>A	ENST00000374343.4	+	5	652		c.e5-1		TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57							axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTTTCTAGTATTGGGTAC	0.363000													11	35					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931709	102931709	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102931709G>T	ENST00000423833.2	-	3	1472	c.247C>A	c.(247-249)Cct>Act	p.P83T	MORF4L2_ENST00000360458.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000433176.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000441076.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000451301.1_Missense_Mutation_p.P83T			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	83					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CCGTTTCCAGGAGTCTTCTGC	0.562000													43	80					1.34996e-11	1.68274e-11	1	1	0
RTN4IP1	84816	broad.mit.edu	37	6	107019892	107019892	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:107019892C>A	ENST00000369063.3	-	9	1635	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	390						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAATTACAGTCTTTCCTCGTG	0.388000													21	43					1.00905e-13	1.29777e-13	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21795831	21795831	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21795831A>C	ENST00000206660.6	+	17	2760	c.2760A>C	c.(2758-2760)caA>caC	p.Q920H	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q882H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q577H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q279H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q920H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q246H			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	920					response to stimulus|visual perception	cilium		p.Q920H(1)|p.Q536H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GATCTATTCAAGTGCAACTGG	0.428000													27	34					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58525055	58525055	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58525055G>A	ENST00000083182.3	-	13	1932	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	549					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GAATATTGCCGATCTCGCAAC	0.443000													53	119					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356597	90356597	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90356597C>T	ENST00000371939.3	+	8	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTAAAAAATTCATTGGTTCAA	0.308000													14	46					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146327	5146327	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5146327G>T	ENST00000274181.7	+	3	398	c.260G>T	c.(259-261)aGa>aTa	p.R87I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R87I|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	87					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGCGGAGAAGAGCAGTGCCC	0.542000													18	52					7.07596e-05	7.68259e-05	1	1	0
ANO3	63982	broad.mit.edu	37	11	26655846	26655846	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:26655846G>A	ENST00000256737.3	+	19	2821	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T	ANO3_ENST00000537978.1_Missense_Mutation_p.A641T|ANO3_ENST00000531568.1_Missense_Mutation_p.A511T|ANO3_ENST00000525139.1_Missense_Mutation_p.A641T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	657						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTCTATATCGCTTTCTTTTT	0.358000													11	24					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45249313	45249313	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45249313A>G	ENST00000066544.3	-	3	314	c.221T>C	c.(220-222)cTg>cCg	p.L74P	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L74P|CDC27_ENST00000527547.1_Missense_Mutation_p.L74P|CDC27_ENST00000446365.2_Intron	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	74					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTTGCAAGCAGGTATTTGCA	0.338000													4	29					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48434526	48434526	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48434526A>C	ENST00000341459.3	+	9	1554	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T	SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	494					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAATAATAAAATAAGGGGC	0.348000													5	29					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15508212	15508212	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:15508212T>G	ENST00000382020.4	+	3	523	c.315T>G	c.(313-315)gcT>gcG	p.A105A	TUSC3_ENST00000509380.1_Silent_p.A105A|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Silent_p.A105A|TUSC3_ENST00000503731.1_Silent_p.A105A	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	105					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCAGGCAAGCTAATGAAGAAT	0.423000													54	88					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71801397	71801397	+	Missense_Mutation	SNP	G	G	A	rs144599077		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71801397G>A	ENST00000258104.3	+	30	3521	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	DYSF_ENST00000409582.3_Missense_Mutation_p.E1099K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1100K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1113K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1069K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1082K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1099K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1114K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1100K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1083K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1083K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1082	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTCCACCTCGAGTACCGCAA	0.662000													56	108					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170135978	170135978	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170135978C>T	ENST00000263816.3	-	12	1754	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	LRP2_ENST00000443831.1_Missense_Mutation_p.R490H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	490					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)	CATATCTATGCGGTTGACCTT	0.428000													29	40					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28414768	28414768	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:28414768C>A	ENST00000261609.7	-	66	10199	c.10091G>T	c.(10090-10092)aGt>aTt	p.S3364I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3364					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATTTTATTACTGGCAGCAGA	0.373000													8	80					5.4927e-09	6.54492e-09	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73679645	73679645	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73679645G>T	ENST00000264448.6	+	8	6099	c.5988G>T	c.(5986-5988)aaG>aaT	p.K1996N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1996	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAACTCAAGATTTCAACTG	0.413000													17	102					9.7654e-05	0.000105618	1	1	0
VWCE	220001	broad.mit.edu	37	11	61026361	61026361	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61026361G>T	ENST00000335613.5	-	20	3040	c.2654C>A	c.(2653-2655)tCc>tAc	p.S885Y	VWCE_ENST00000535710.1_Missense_Mutation_p.S350Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	885						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCACCTGGACACTATCTG	0.647000													20	27					4.96729e-08	5.79844e-08	1	1	0
FAT1	2195	broad.mit.edu	37	4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGCTGCTCGAATCACCAGT	0.428000										HNSCC(5;0.00058)			14	23					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620126	15620126	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620126T>G	ENST00000464847.2	+	5	1641	c.1088T>G	c.(1087-1089)tTt>tGt	p.F363C	ZNF286A_ENST00000583566.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000593105.1_Missense_Mutation_p.F353C|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000413242.2_Missense_Mutation_p.F363C|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GATAAAGCTTTTATTCATTCA	0.368000													9	30					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156757772	156757772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156757772C>T	ENST00000347377.6	+	20	2610	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*	CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R652*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R531*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R701*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R752*|CYFIP2_ENST00000442283.2_Nonsense_Mutation_p.R12*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R426*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R727*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	752					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)			TAAACGTTTTCGAGCTGAGTG	0.448000													10	27					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7273978	7273978	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:7273978T>G	ENST00000436587.2	+	2	251	c.28T>G	c.(28-30)Tta>Gta	p.L10V	C1GALT1_ENST00000402468.3_Missense_Mutation_p.L10V|C1GALT1_ENST00000223122.2_Missense_Mutation_p.L10V	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	10					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCTGAATTTTTTAACCTTCCT	0.363000													15	28					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118530745	118530745	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118530745G>T	ENST00000336338.5	-	39	5669	c.5604C>A	c.(5602-5604)ttC>ttA	p.F1868L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1868						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)		TCTTTTCAAAGAAATCTTTAC	0.363000													4	10					0.150653	0.151842	1	1	0
NPR3	4883	broad.mit.edu	37	5	32786419	32786419	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32786419G>A	ENST00000265074.8	+	8	1937	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N	NPR3_ENST00000415167.2_Missense_Mutation_p.D531N|NPR3_ENST00000415685.2_Missense_Mutation_p.D315N|NPR3_ENST00000434067.2_Missense_Mutation_p.D316N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	532					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATTACGGGAAGATTCCATCAG	0.413000													5	13					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19009003	19009003	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19009003T>C	ENST00000379878.3	-	28	3226	c.2985A>G	c.(2983-2985)ttA>ttG	p.L995L	GPR64_ENST00000379876.1_Silent_p.L987L|GPR64_ENST00000356606.4_Silent_p.L997L|GPR64_ENST00000379873.2_Silent_p.L960L|GPR64_ENST00000357544.3_Silent_p.L981L|GPR64_ENST00000360279.4_Silent_p.L989L|GPR64_ENST00000357991.3_Silent_p.L1008L|GPR64_ENST00000354791.3_Silent_p.L995L|GPR64_ENST00000340581.3_Silent_p.L892L|GPR64_ENST00000379869.3_Silent_p.L1011L	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1011					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAATAAAGTGTAAGCTTCCCC	0.398000													38	62					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66709096	66709096	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:66709096A>C	ENST00000247815.4	+	6	1992	c.1933A>C	c.(1933-1935)Aat>Cat	p.N645H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	645					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAAGTCAAGAAATTGTGCTAT	0.353000													20	38					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134713730	134713730	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134713730G>T	ENST00000370752.4	+	15	2360	c.2026G>T	c.(2026-2028)Gat>Tat	p.D676Y	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	676										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATCATTCACGATGGCCATGA	0.428000													19	50					4.96729e-08	5.79844e-08	1	1	0
NUP62CL	54830	broad.mit.edu	37	X	106396734	106396734	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106396734C>A	ENST00000372466.4	-	6	597		c.e6-1		NUP62CL_ENST00000372461.3_Splice_Site	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like						protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						AAATACGAATCTATAAAGAGA	0.254000													10	14					0.00829132	0.00855608	1	1	0
STAG1	10274	broad.mit.edu	37	3	136096557	136096557	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136096557A>C	ENST00000383202.2	-	23	2571	c.2315T>G	c.(2314-2316)tTt>tGt	p.F772C	STAG1_ENST00000236698.5_Missense_Mutation_p.F772C|STAG1_ENST00000434713.2_Missense_Mutation_p.F546C|STAG1_ENST00000536929.1_Missense_Mutation_p.F356C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	772					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACAGCCAAAAAGGATTTCAC	0.368000													18	23					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013420	149013420	+	Missense_Mutation	SNP	G	G	A	rs150893284		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149013420G>A	ENST00000535454.1	+	4	923	c.374G>A	c.(373-375)cGc>cAc	p.R125H	MAGEA8_ENST00000542674.1_Missense_Mutation_p.R125H|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R125H	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	125	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGCTCCGCAAATATCAA	0.498000													51	110					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73181709	73181709	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73181709G>A	ENST00000545377.1	+	25	3266	c.3090G>A	c.(3088-3090)gcG>gcA	p.A1030A	ARHGEF28_ENST00000426542.2_Silent_p.A1030A|ARHGEF28_ENST00000296799.4_Silent_p.A717A|ARHGEF28_ENST00000513042.2_Silent_p.A1030A|ARHGEF28_ENST00000437974.1_Silent_p.A1030A|ARHGEF28_ENST00000287898.5_Silent_p.A1030A|ARHGEF28_ENST00000296794.6_Silent_p.A1030A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TACGCAAAGCGCTTTGCTTAA	0.318000													8	24					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858428	12858428	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12858428G>A	ENST00000456430.2	+	10	2038	c.1997G>A	c.(1996-1998)cGg>cAg	p.R666Q	CAND2_ENST00000295989.5_Missense_Mutation_p.R573Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	666					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGAACCAGCGGGCTTTGCGA	0.667000													43	58					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1503					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCTCCGTGCGGAACTGCTT	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				18	41					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74817652	74817652	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74817652A>G	ENST00000358399.3	+	3	471	c.378A>G	c.(376-378)agA>agG	p.R126R	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.R84R|GDA_ENST00000545168.1_Silent_p.R52R|GDA_ENST00000376989.3_Silent_p.R101R|GDA_ENST00000238018.4_Silent_p.R126R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	126					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TATATACCAGAGTTGTCGTAA	0.398000													11	113					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962357	235962357	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235962357A>C	ENST00000409212.1	+	6	3296	c.2789A>C	c.(2788-2790)aAg>aCg	p.K930T	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	930					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCATCACCAAGCGCTGGAAG	0.577000													39	179					0	0	1	0	0
CSNK2B-LY6G5B-1181	0	broad.mit.edu	37	6	31636911	31636911	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31636911C>A	ENST00000375880.2	+	5	447	c.329C>A	c.(328-330)cCt>cAt	p.P110H	CSNK2B_ENST00000375866.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.P129H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.P110H																							GGTTACTGTCCTCGTGTGTAC	0.498000													16	39					4.7546e-09	5.67505e-09	1	1	0
ZRANB3	84083	broad.mit.edu	37	2	135988495	135988495	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135988495G>A	ENST00000401392.1	-	13	1754	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZRANB3_ENST00000536680.1_Silent_p.F514F|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.F514F			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	514						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTCTTTTTCGAACTAGGAAA	0.323000													9	8					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29915099	29915099	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29915099A>C	ENST00000490103.1	-	15	1507	c.1385T>G	c.(1384-1386)aTt>aGt	p.I462S	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.I462S|THOC5_ENST00000397871.1_Missense_Mutation_p.I462S|THOC5_ENST00000397872.1_Missense_Mutation_p.I462S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	462					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTCAGCAATCACTGTTTG	0.582000													30	58					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95200129	95200129	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95200129C>T	ENST00000354268.4	+	19	2419	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	SMARCAD1_ENST00000457823.2_Silent_p.A784A|SMARCAD1_ENST00000509418.1_Silent_p.A352A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	782					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GGAAAATGGCCAATCATCCTT	0.343000													7	16					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114832641	114832641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114832641C>A	ENST00000310346.4	-	6	1234	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.E140*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.E190*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E190*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	190					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATTATTTTCATCCGCTTTC	0.358000													76	135					1.75807e-36	2.52894e-36	1	1	0
FAM3B	54097	broad.mit.edu	37	21	42720602	42720602	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:42720602T>G	ENST00000398652.3	+	8	752	c.686T>G	c.(685-687)tTt>tGt	p.F229C	FAM3B_ENST00000398646.3_Missense_Mutation_p.F213C|FAM3B_ENST00000357985.2_Missense_Mutation_p.F190C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.F142C			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	190					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGCTGGGTATTTATTGCAGCA	0.418000													19	36					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92082634	92082634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92082634G>T	ENST00000285420.4	+	1	211	c.112G>T	c.(112-114)Gag>Tag	p.E38*	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	8										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			ATTGACCGAAGAGCTTGATGA	0.582000													9	14					0.0477658	0.0484551	1	1	0
ROS1	6098	broad.mit.edu	37	6	117715350	117715350	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117715350C>A	ENST00000368508.3	-	10	1337	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	ROS1_ENST00000368507.3_Missense_Mutation_p.R389I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	380					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R380I(2)	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)		GAAATACATTCTTTGATAAAG	0.353000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	12					0.000602214	0.000636035	1	1	0
WEE1	7465	broad.mit.edu	37	11	9598080	9598080	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9598080A>C	ENST00000299613.6	+	4	1006	c.251A>C	c.(250-252)gAa>gCa	p.E84A	WEE1_ENST00000450114.2_Missense_Mutation_p.E298A	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	298					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TATACAACAGAATTTCATGAG	0.333000													6	53					0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54948493	54948493	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:54948493A>G	ENST00000395909.4	-	9	1390	c.825T>C	c.(823-825)ttT>ttC	p.F275F	AURKA_ENST00000395915.3_Silent_p.F275F|AURKA_ENST00000395914.1_Silent_p.F275F|AURKA_ENST00000312783.6_Silent_p.F275F|AURKA_ENST00000395913.3_Silent_p.F275F|AURKA_ENST00000395907.1_Silent_p.F275F|AURKA_ENST00000347343.2_Silent_p.F275F|AURKA_ENST00000395911.1_Silent_p.F275F|AURKA_ENST00000371356.2_Silent_p.F275F	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	275	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTGACCACCCAAAATCTGCAA	0.423000													32	46					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019750	111019750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019750C>A	ENST00000262839.2	-	11	3631	c.2713G>T	c.(2713-2715)Gaa>Taa	p.E905*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	905					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						TCACCTAATTCTACCTCACTG	0.483000													6	51					3.59834e-05	3.93264e-05	1	1	0
FGA	2243	broad.mit.edu	37	4	155507462	155507462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155507462C>T	ENST00000302053.3	-	5	1197	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	FGA_ENST00000403106.3_Nonsense_Mutation_p.W373*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	373					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCAGAGGTCCAGTGCCCAG	0.547000													8	111					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121243839	121243839	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121243839G>T	ENST00000297848.3	+	19	2601	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E777D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E682D|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	777	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGACCCTGAGGAAGAAGTCA	0.443000													9	24					3.09899e-07	3.54467e-07	1	1	0
EIF5	1983	broad.mit.edu	37	14	103803151	103803151	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103803151C>A	ENST00000216554.3	+	5	968	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	EIF5_ENST00000558506.1_Missense_Mutation_p.L98I|EIF5_ENST00000392715.2_Missense_Mutation_p.L98I|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	98					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAAATTTGTTCTCTGTCCTGA	0.393000													19	40					1.56452e-12	1.97515e-12	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132553062	132553062	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132553062G>T	ENST00000265342.7	-	13	1716	c.1467C>A	c.(1465-1467)atC>atA	p.I489I	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	489						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAGGACAGATTTCTTCCT	0.502000													10	23					3.86212e-05	4.21111e-05	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21606234	21606234	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606234T>G	ENST00000392288.2	+	4	882	c.773T>G	c.(772-774)aTt>aGt	p.I258S	ZNF493_ENST00000355504.4_Missense_Mutation_p.I130S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATAAGAGAATTCATACTGGA	0.368000													15	38					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99657837	99657837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99657837G>T	ENST00000373034.4	-	3	3976	c.2301C>A	c.(2299-2301)taC>taA	p.Y767*	PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y720*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y720*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCCATAGGAGTACTCAGCAA	0.438000													13	18					9.31168e-06	1.03131e-05	1	1	0
GPR98	84059	broad.mit.edu	37	5	90087050	90087050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90087050C>T	ENST00000405460.2	+	70	14500	c.14404C>T	c.(14404-14406)Cga>Tga	p.R4802*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.R463*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4802					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	p.R4802*(1)		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)		TGTTGGGCTTCGAATATCATC	0.463000													3	20					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68929922	68929922	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:68929922T>G	ENST00000295569.7	-	3	581	c.89A>C	c.(88-90)aAg>aCg	p.K30T		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	30						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GGACATCAGCTTACAGCACAC	0.507000													25	58					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254099	30254099	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30254099G>T	ENST00000361644.2	+	5	795	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	MAGEB3_ENST00000378986.1_Missense_Mutation_p.G20C	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	20										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GCAGACCCGGGGTCAGACCCA	0.517000													15	49					2.32078e-09	2.7896e-09	1	1	0
ZMYND11	10771	broad.mit.edu	37	10	288047	288047	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:288047C>T	ENST00000397962.3	+	10	1346	c.918C>T	c.(916-918)gtC>gtT	p.V306V	ZMYND11_ENST00000558098.2_Silent_p.V306V|ZMYND11_ENST00000397959.3_Silent_p.V221V|ZMYND11_ENST00000381584.1_Silent_p.V289V|ZMYND11_ENST00000545619.1_Silent_p.V186V|ZMYND11_ENST00000381602.4_Silent_p.V266V|ZMYND11_ENST00000602682.1_Silent_p.V221V|ZMYND11_ENST00000381604.4_Silent_p.V266V|ZMYND11_ENST00000403354.1_Silent_p.V226V|ZMYND11_ENST00000309776.4_Silent_p.V266V|ZMYND11_ENST00000535374.1_Silent_p.V101V|ZMYND11_ENST00000509513.2_Silent_p.V305V|ZMYND11_ENST00000402736.1_Silent_p.V275V|ZMYND11_ENST00000381607.4_Silent_p.V212V|ZMYND11_ENST00000381591.1_Silent_p.V306V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	266					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACAATCAAGTCGACGTTCGCT	0.428000													5	70					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43906647	43906647	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:43906647G>A	ENST00000314537.5	+	5	619	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CRHR1_ENST00000339069.5_Missense_Mutation_p.V31M|CRHR1_ENST00000577353.1_Missense_Mutation_p.V132M|CRHR1_ENST00000398285.3_Missense_Mutation_p.V132M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Missense_Mutation_p.V92M	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	132					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.V132L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TATCTCCCTGGTGGCCCTCCT	0.587000													5	29					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823942	74823942	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74823942G>A	ENST00000256362.4	+	2	697	c.456G>A	c.(454-456)acG>acA	p.T152T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	152					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCCCGCCACGCTGGAGGCCA	0.612000													19	55					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60531322	60531322	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60531322T>G	ENST00000405633.3	+	2	195	c.116T>G	c.(115-117)aTt>aGt	p.I39S	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.I39S	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	39						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CCTCCAGGGATTATGCAGTTT	0.602000													51	95					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534420	47534420	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47534420C>A	ENST00000334194.3	+	2	307	c.304C>A	c.(304-306)Ctc>Atc	p.L102I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	102						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGCCAAGATTCTCCTGAAAAG	0.478000													24	63					7.87624e-14	1.01695e-13	1	1	0
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108235812C>A	ENST00000278616.4	+	62	9239	c.8854C>A	c.(8854-8856)Ctt>Att	p.L2952I	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952I|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2952	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTTAGGTCCTTCTATATGA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	22					0.000151284	0.00016287	1	1	0
AC006293.3	0	broad.mit.edu	37	19	55221508	55221508	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55221508C>A	ENST00000413439.1	+	0	1288																											AGGCTGGGCTCTCCCAGGCCA	0.637000													29	45					4.87955e-14	6.31333e-14	1	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135827455	135827455	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135827455T>G	ENST00000250617.6	-	4	1591	c.386A>C	c.(385-387)aAt>aCt	p.N129T	ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	129					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTGAGAAGTATTAGCAGCACT	0.448000													74	121					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52718065	52718065	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52718065G>T	ENST00000399231.3	-	4	660	c.417C>A	c.(415-417)atC>atA	p.I139I	MYO5A_ENST00000356338.6_Silent_p.I139I|MYO5A_ENST00000553916.1_Silent_p.I139I|MYO5A_ENST00000399233.2_Silent_p.I139I|MYO5A_ENST00000358212.6_Silent_p.I139I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	139	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTACTGCAAAGATATGTGGAT	0.363000													20	32					4.63292e-17	6.19965e-17	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32831749	32831749	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32831749G>T	ENST00000397452.1	-	9	976	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	BPIFC_ENST00000300399.3_Missense_Mutation_p.S289Y|BPIFC_ENST00000432451.2_Missense_Mutation_p.S103Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.S13Y			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	289						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAGGACGCAGATTTAAAGAA	0.488000													12	55					2.80697e-09	3.36108e-09	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355761	118355761	+	Silent	SNP	C	C	A	rs35466965		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118355761C>A	ENST00000528052.1	+	6	572	c.501C>A	c.(499-501)ctC>ctA	p.L167L	PNLIPRP1_ENST00000534537.1_Silent_p.L167L|PNLIPRP1_ENST00000358834.4_Silent_p.L167L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	167					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGTTCACCTCATTGGCCACA	0.532000													68	141					7.97268e-31	1.13956e-30	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57431423	57431423	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57431423T>C	ENST00000442789.2	-	20	2251	c.1964A>G	c.(1963-1965)gAa>gGa	p.E655G	MYO1A_ENST00000544473.1_Missense_Mutation_p.E493G|MYO1A_ENST00000300119.3_Missense_Mutation_p.E655G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	655	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAACACCTTCCCTATGGAA	0.507000													85	157					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529347	102529347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102529347C>A	ENST00000372680.1	-	3	439	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	49	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ccctcgcattctgtcttcccc	0.512000													32	48					1.06801e-11	1.33247e-11	1	1	0
DSN1	79980	broad.mit.edu	37	20	35399573	35399573	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:35399573T>C	ENST00000426836.1	-	3	430	c.58A>G	c.(58-60)Act>Gct	p.T20A	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.1_Missense_Mutation_p.T4A|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.T20A|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.T20A	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	20					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGATCATGAGTCTTAGACATC	0.378000													47	93					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790391	19790391	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19790391A>C	ENST00000592502.1	+	4	703	c.593A>C	c.(592-594)aAa>aCa	p.K198T	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.K78T			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGGTCCTATAAATGTAGGGAA	0.383000													30	46					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30872825	30872825	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30872825G>T	ENST00000378933.1	-	3	1134	c.957C>A	c.(955-957)atC>atA	p.I319I	TAB3_ENST00000378932.2_Silent_p.I319I|TAB3_ENST00000378930.3_Silent_p.I319I|TAB3_ENST00000288422.2_Silent_p.I319I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	319	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGCATAAAGATGTGGCCCA	0.493000													11	49					3.86212e-05	4.21111e-05	1	1	0
SLC12A4	6560	broad.mit.edu	37	16	67991677	67991677	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67991677A>G	ENST00000422611.2	-	4	557	c.518T>C	c.(517-519)aTg>aCg	p.M173T	SLC12A4_ENST00000572037.1_Missense_Mutation_p.M123T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.M171T|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.M171T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.M140T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.M165T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.M171T	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	171					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GATGGCACTCATGGAGATGGC	0.647000													18	29					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149264383	149264383	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149264383C>A	ENST00000255266.5	-	15	2005	c.1886G>T	c.(1885-1887)aGa>aTa	p.R629I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	629					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)			CAAGTGGTGTCTTTCCAAGAT	0.502000													19	35					1.01871e-10	1.25646e-10	1	1	0
IL16	3603	broad.mit.edu	37	15	81598795	81598795	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81598795G>T	ENST00000394660.2	+	18	4071	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	IL16_ENST00000302987.4_Missense_Mutation_p.E1238D|IL16_ENST00000394652.2_Missense_Mutation_p.E537D|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1238	PDZ 4.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGACACTGGAGAAGATGTCGG	0.567000													57	122					1.17673e-23	1.64719e-23	1	1	0
OR1S1	219959	broad.mit.edu	37	11	57982748	57982748	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982748C>A	ENST00000309433.6	+	1	532	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGCTCATTCAATTGCTCTT	0.448000													27	63					7.63505e-26	1.07707e-25	1	1	0
FAM221A	340277	broad.mit.edu	37	7	23740474	23740474	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23740474G>T	ENST00000344962.4	+	6	904	c.815G>T	c.(814-816)cGa>cTa	p.R272L	FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409994.3_Missense_Mutation_p.R178L|FAM221A_ENST00000409653.1_Missense_Mutation_p.R214L|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236L	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	272																	TTTGAAAGACGATACCAGGAA	0.348000													39	68					6.57855e-14	8.50372e-14	1	1	0
ZNF259	8882	broad.mit.edu	37	11	116649650	116649650	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:116649650C>T	ENST00000227322.3	-	14	1430	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	457					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTACCGTTGCGGAGCCAGGC	0.532000													17	26					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249206	88249206	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88249206G>T	ENST00000518476.1	+	6	688	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	213										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAAACAAACGTGTATAAAAA	0.363000													18	49					1.33834e-09	1.61283e-09	1	1	0
ZNF639	51193	broad.mit.edu	37	3	179051980	179051980	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179051980A>G	ENST00000326361.3	+	7	1673	c.1228A>G	c.(1228-1230)Aaa>Gaa	p.K410E	ZNF639_ENST00000496856.1_Missense_Mutation_p.K410E|ZNF639_ENST00000484866.1_Missense_Mutation_p.K410E	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	410	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACTGTGGGAAAGGCTTTTC	0.323000													7	85					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990408	38990408	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38990408C>T	ENST00000355481.4	+	44	7292	c.7161C>T	c.(7159-7161)tcC>tcT	p.S2387S	RYR1_ENST00000360985.3_Silent_p.S2387S|RYR1_ENST00000359596.3_Silent_p.S2387S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2387	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)	TCCGCATCTCCGAGGACCCTG	0.706000													9	21					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753382	13753382	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753382T>C	ENST00000265104.4	-	63	10936	c.10832A>G	c.(10831-10833)aAg>aGg	p.K3611R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3611	AAA 5 (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)					AATCCAGATCTTGCCTTGAGT	0.368000									Kartagener syndrome				21	38					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34166245C>T	ENST00000373381.4	-	23	3781	c.3605G>A	c.(3604-3606)cGt>cAt	p.R1202H	CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	CUB 7.					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)				TCCCAGCAAACGGGCGGAGTT	0.498000													26	51					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52949572	52949572	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:52949572G>A	ENST00000281741.4	-	13	1591	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	407	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCTGTCAGAAGCCATCACTGT	0.368000													9	12					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56084470	56084470	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56084470G>A	ENST00000582730.2	-	1	152	c.29C>T	c.(28-30)cCc>cTc	p.P10L	SRSF1_ENST00000585096.1_Missense_Mutation_p.P10L|SRSF1_ENST00000584773.1_Missense_Mutation_p.P10L|SRSF1_ENST00000258962.4_Missense_Mutation_p.P10L	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	10					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCCCTGCGGGGCCACGAAT	0.597000													7	80					0	0	1	0	0
TRBV30	0	broad.mit.edu	37	7	142511022	142511022	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142511022C>A	ENST00000417977.2	-	0	62																											GACGCCTCCTCTTCTGGGCCA	0.582000													4	5					0.00909568	0.00935351	1	1	0
FAM214A	56204	broad.mit.edu	37	15	52897382	52897382	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52897382G>A	ENST00000261844.7	-	7	2560	c.2408C>T	c.(2407-2409)aCt>aTt	p.T803I	FAM214A_ENST00000546305.2_Missense_Mutation_p.T810I	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	803																	TCTGGTTGAAGTTCCATCCAA	0.338000													6	103					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197208479	197208479	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197208479G>T	ENST00000260983.2	-	3	484	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	101					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTTGGCTGGAGAATTCTCATC	0.378000													57	77					2.17126e-26	3.07221e-26	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039109	11039109	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11039109C>A	ENST00000470054.1	-	0	1094									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)		TGTAGCCTTTCTATAACCAAC	0.398000													14	228					0.000151284	0.00016287	1	1	0
MACF1	23499	broad.mit.edu	37	1	39798397	39798397	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39798397C>A	ENST00000564288.1	+	37	6914	c.6137C>A	c.(6136-6138)tCt>tAt	p.S2046Y	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S2051Y|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S486Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S2083Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2051					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTTTCTTCTCAGAACAAA	0.433000													18	59					5.01169e-05	5.45927e-05	1	1	0
IPMK	253430	broad.mit.edu	37	10	59955838	59955838	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:59955838C>A	ENST00000373935.3	-	6	1572	c.1250G>T	c.(1249-1251)tGa>tTa	p.*417L		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	0						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ACAGAGGATTCAATTGTCTAA	0.353000													24	55					2.79863e-10	3.42475e-10	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96708977	96708977	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96708977A>C	ENST00000260682.6	+	5	767	c.755A>C	c.(754-756)cAa>cCa	p.Q252P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	252					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAAGAACACCAAGAATCAATG	0.328000													5	56					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95262876	95262876	+	Nonsense_Mutation	SNP	C	C	T	rs146596670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95262876C>T	ENST00000371485.3	+	3	494	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	64					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CTAGAAAATTCGAGTCCTTGA	0.368000													19	22					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55946184	55946184	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55946184A>C	ENST00000263923.4	-	30	4290	c.3995T>G	c.(3994-3996)aTt>aGt	p.I1332S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1332					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCACTCCAATCTCTATCAG	0.522000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			44	82					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967372	57967372	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57967372C>A	ENST00000321039.3	-	1	482	c.483G>T	c.(481-483)aaG>aaT	p.K161N	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	161					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GGGATCTAATCTTGATCTCCA	0.483000													7	72					0.248553	0.24944	1	1	0
EFNA5	1946	broad.mit.edu	37	5	106763211	106763211	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:106763211C>A	ENST00000333274.6	-	2	407		c.e2-1		EFNA5_ENST00000509503.1_Splice_Site	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5						cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCTCTGGAATCTGTTAGAAAA	0.393000													30	51					7.01153e-11	8.66693e-11	1	1	0
IL13RA1	3597	broad.mit.edu	37	X	117875003	117875003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117875003T>G	ENST00000371666.3	+	2	179	c.112T>G	c.(112-114)Ttg>Gtg	p.L38V	IL13RA1_ENST00000371642.1_Missense_Mutation_p.L38V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	38						interleukin-13 receptor complex	cytokine receptor activity	p.L38V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGTGACAAATTTGAGTGTCTC	0.373000													31	52					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873907	31873907	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31873907C>A	ENST00000253354.1	+	2	189	c.28C>A	c.(28-30)Ctc>Atc	p.L10I		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	10						extracellular space	lipid binding										CTTCACCCTTCTCTGTGGTTT	0.577000													29	54					6.38683e-12	8.00204e-12	1	1	0
SLC6A14	11254	broad.mit.edu	37	X	115590115	115590115	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115590115G>T	ENST00000371900.4	+	14	2011	c.1923G>T	c.(1921-1923)ccG>ccT	p.P641P		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	641					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GCAGAAAACCGGAATGAGATC	0.343000													35	67					4.34311e-12	5.44389e-12	1	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173866010	173866010	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:173866010C>T	ENST00000264111.6	+	17	1780	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	RAPGEF4_ENST00000409036.1_Silent_p.D532D|RAPGEF4_ENST00000540783.1_Silent_p.D379D|RAPGEF4_ENST00000539331.1_Silent_p.D379D|RAPGEF4_ENST00000397087.3_Silent_p.D388D|RAPGEF4_ENST00000538974.1_Silent_p.D361D|RAPGEF4_ENST00000397081.3_Silent_p.D532D|RAPGEF4_ENST00000535187.1_Silent_p.D312D			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	532	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTTTAAATGACTTTATTATGA	0.383000													13	51					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033157	37033157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37033157A>C	ENST00000322716.5	-	1	1638	c.1412T>G	c.(1411-1413)tTt>tGt	p.F471C		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	471						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ATGTCTCTCAAATTCTTTTTG	0.328000													8	14					0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19185898	19185898	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19185898T>C	ENST00000446113.2	+	12	1405	c.1284T>C	c.(1282-1284)tgT>tgC	p.C428C	ZDHHC13_ENST00000399351.3_Silent_p.C298C	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	428					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAACATTTTGTACATCATGTC	0.348000													4	13					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183479328	183479328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183479328C>T	ENST00000305135.5	+	14	1885	c.1690C>T	c.(1690-1692)Ctt>Ttt	p.L564F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	564					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATGCCACCTCTTTGCCCAAT	0.413000													50	86					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82878235	82878235	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82878235A>C	ENST00000298281.4	+	6	2338	c.1886A>C	c.(1885-1887)aAa>aCa	p.K629T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	629					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAAGCACTAAAGGAATTTTA	0.408000													46	74					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850809	25850809	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:25850809G>T	ENST00000397060.4	-	8	980	c.871C>A	c.(871-873)Ctc>Atc	p.L291I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.L213I|SLC17A3_ENST00000360657.3_Missense_Mutation_p.L213I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	213					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGAGATCTGAGCATAGCTTTG	0.428000													37	14					7.04047e-22	9.7605e-22	1	1	0
CBFA2T3	863	broad.mit.edu	37	16	88945713	88945713	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88945713G>T	ENST00000268679.4	-	11	2023	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.L457M|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.L467M|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.L505M|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.L457M	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	543					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ATGACCGTCAGGGCGTCCTCG	0.711000			T	RUNX1	AML								5	68					0.0293803	0.0299069	1	1	0
WIPF2	147179	broad.mit.edu	37	17	38421170	38421170	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38421170C>T	ENST00000323571.4	+	5	982	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Silent_p.L248L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.L248L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	248						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TGGCCAGTCTCTGGCTCCTCC	0.602000										HNSCC(43;0.11)			14	224					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021708	55021708	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55021708G>T	ENST00000324000.3	+	2	2289	c.255G>T	c.(253-255)gaG>gaT	p.E85D		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	85					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTCCAAGAGAAACCTTCTA	0.433000													45	69					1.15505e-17	1.55342e-17	1	1	0
TAS2R8	50836	broad.mit.edu	37	12	10959316	10959316	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10959316G>A	ENST00000240615.2	-	1	576	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	88					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAATGTCCAGAAGGTAAAAA	0.348000													36	41					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153497338	153497338	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:153497338G>A	ENST00000288670.9	+	25	3446	c.3079G>A	c.(3079-3081)Gag>Aag	p.E1027K	FMNL2_ENST00000475377.2_Missense_Mutation_p.E402K	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	1027					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCAGCAAGAGTTAATTGC	0.378000													8	14					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935607	56935607	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935607A>C	ENST00000333201.9	+	5	1790	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATTGCAGGAAATCTTTCAGG	0.408000													25	56					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899139	103899139	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103899139A>C	ENST00000278070.2	+	5	913	c.874A>C	c.(874-876)Atg>Ctg	p.M292L	PPRC1_ENST00000413464.2_Missense_Mutation_p.M292L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCAGCAGAGATGGCAGTGCC	0.587000													9	98					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30970433	30970433	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30970433G>A	ENST00000262519.8	+	3	858	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TATACCAGTCGAAGACCTCCA	0.522000													61	124					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368270	183368270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183368270C>A	ENST00000454652.1	+	4	512	c.126C>A	c.(124-126)ttC>ttA	p.F42L	KLHL24_ENST00000242810.6_Missense_Mutation_p.F42L|KLHL24_ENST00000476808.1_Missense_Mutation_p.F42L			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	42						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTTTGACTTCTCTTCAGGAT	0.408000													20	54					1.33834e-09	1.61283e-09	1	1	0
IGHV1-45	0	broad.mit.edu	37	14	106963355	106963355	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106963355G>T	ENST00000390621.2	-	0	69																											GGATTCTCCAGGTCCAGTCCA	0.532000													17	51					0.00074312	0.000783089	1	1	0
CNR2	1269	broad.mit.edu	37	1	24201065	24201065	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24201065G>A	ENST00000536471.1	-	3	1301	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	CNR2_ENST00000374472.4_Missense_Mutation_p.P348L			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	348					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATCTGGCCACGGAGTGATTTT	0.507000													40	76					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1995					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463000													49	74					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33091084	33091084	+	Missense_Mutation	SNP	C	C	T	rs76835557	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33091084C>T	ENST00000334528.9	-	15	3381	c.3382G>A	c.(3382-3384)Gtg>Atg	p.V1128M	FMN1_ENST00000561249.1_Missense_Mutation_p.V1253M|FMN1_ENST00000559047.1_Missense_Mutation_p.V1351M	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1351	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ACCATAAACACGTAGCTGGGT	0.398000													7	24					0	0	1	0	0
ITGAL	0	broad.mit.edu	37	16	30507506	30507506	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30507506T>G	ENST00000356798.6	+	14	1772	c.1592T>G	c.(1591-1593)aTc>aGc	p.I531S	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.I448S|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	531					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGACAGACATCAACGGCGAT	0.617000													23	125					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123949434	123949434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123949434C>T	ENST00000274008.3	+	11	2032	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	655					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCTTTCATTCGAATGGGTAT	0.448000													42	69					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173873151	173873151	+	Missense_Mutation	SNP	C	C	T	rs121909566		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173873151C>T	ENST00000367698.3	-	7	1389	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	424			G -> D (in AT3D; type-II; Stockholm).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TAGCGAACGGCCAGCAATCAC	0.463000													25	42					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30891151	30891151	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30891151G>A	ENST00000321897.5	+	24	2967	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	VARS2_ENST00000416670.2_Missense_Mutation_p.D779N|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.D809N|VARS2_ENST00000542001.1_Missense_Mutation_p.D639N			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	779					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						CTCCCCGATGGATGCCTGGAT	0.657000													41	16					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110829261	110829261	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:110829261T>G	ENST00000375820.4	-	34	2961	c.2840A>C	c.(2839-2841)aAg>aCg	p.K947T		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	947	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTTCTGGCCCTTCATGCTGCC	0.577000													16	57					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176595	160176595	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160176595T>G	ENST00000358372.4	+	8	2900	c.1143T>G	c.(1141-1143)gtT>gtG	p.V381V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	381					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCCGCCACGTTCAGAATGGCT	0.418000													13	78					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6607343	6607343	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:6607343T>G	ENST00000264670.6	-	13	1789	c.1478A>C	c.(1477-1479)aAt>aCt	p.N493T	NSUN2_ENST00000539938.1_Missense_Mutation_p.N257T|NSUN2_ENST00000506139.1_Missense_Mutation_p.N458T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	493						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACTGCCATTATTCTCTAAATC	0.438000													69	136					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390744	124390744	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124390744G>A	ENST00000338354.3	+	46	6012	c.5906G>A	c.(5905-5907)gGc>gAc	p.G1969D	DMBT1_ENST00000368956.2_Missense_Mutation_p.G1341D|DMBT1_ENST00000359586.6_Missense_Mutation_p.G689D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1969D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1341D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1969	SRCR 14.				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)				CGGAACCGAGGCTGGTTCTCC	0.532000													52	97					0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272619	38272619	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38272619A>C	ENST00000373044.2	-	3	538	c.534T>G	c.(532-534)gcT>gcG	p.A178A		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	178	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTGCATAAAAGCATGATCAG	0.488000													30	51					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633726	70633726	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70633726C>T	ENST00000381269.2	-	2	2167	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D472N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D472N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	472	Calx-beta 1.				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)		TCAAAAATGTCGTCATCAATT	0.512000													60	124					0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50382591	50382591	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50382591G>A	ENST00000231749.3	-	2	1437	c.165C>T	c.(163-165)ggC>ggT	p.G55G	ZMYND10_ENST00000360165.3_Silent_p.G55G|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	55						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAATGGGCTCGCCCTGGCTGA	0.602000										TSP Lung(30;0.18)			7	18					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116371750	116371750	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116371750A>G	ENST00000397752.3	+	3	1429	c.1229A>G	c.(1228-1230)gAa>gGa	p.E410G	MET_ENST00000318493.6_Missense_Mutation_p.E410G|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.E410G	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	410	Sema.				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)			TCAGGCTGTGAAGCGCGCCGT	0.418000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				16	27					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1267977	1267977	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1267977C>T	ENST00000348261.5	+	32	5630	c.5382C>T	c.(5380-5382)ttC>ttT	p.F1794F	CACNA1H_ENST00000565831.1_Silent_p.F1788F|CACNA1H_ENST00000358590.4_Silent_p.F1788F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1794					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCAGCAACTTCGGCATGGCCT	0.682000													6	9					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270889	1270889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270889G>T	ENST00000348261.5	+	35	7205	c.6957G>T	c.(6955-6957)gaG>gaT	p.E2319D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2313D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2313D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2319					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCCCCCAGAGAAGAGGCGGG	0.652000													30	60					1.39806e-14	1.82523e-14	1	1	0
PRDM5	11107	broad.mit.edu	37	4	121720877	121720877	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121720877T>G	ENST00000264808.3	-	9	1209	c.969A>C	c.(967-969)caA>caC	p.Q323H	PRDM5_ENST00000428209.2_Missense_Mutation_p.Q292H|PRDM5_ENST00000515109.1_Missense_Mutation_p.Q292H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	323					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCATACATTCTTGACAATCAA	0.299000													10	19					0	0	1	0	0
PPIH	10465	broad.mit.edu	37	1	43124947	43124947	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43124947C>A	ENST00000372549.1	+	2	238	c.102C>A	c.(100-102)ttC>ttA	p.F34L	PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000304979.3_Intron			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	0	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TGTTTGACTTCTTTGCCTGCT	0.478000													47	94					4.10826e-27	5.81883e-27	1	1	0
TTN	7273	broad.mit.edu	37	2	179629268	179629268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179629268G>T	ENST00000589042.1	-	42	10198	c.9974C>A	c.(9973-9975)tCa>tAa	p.S3325*	TTN_ENST00000342175.6_Nonsense_Mutation_p.S3279*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3279*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S3325*|TTN_ENST00000360870.5_Nonsense_Mutation_p.S3325*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3279*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S3325*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3050	Ig-like 19.						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)			CACTGAGAGTGAAGCTGATGT	0.433000													34	71					7.11191e-15	9.30872e-15	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102519017	102519017	+	Missense_Mutation	SNP	G	G	A	rs144678063		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102519017G>A	ENST00000321521.9	+	25	3578	c.3005G>A	c.(3004-3006)cGa>cAa	p.R1002Q	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R1002Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1002Q			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1002					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTGGGCGTCGAAGACGCAGA	0.512000													18	31					0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127608732	127608732	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:127608732G>A	ENST00000368314.1	+	3	1398	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	RNF146_ENST00000356799.2_Missense_Mutation_p.R324Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R324Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	325					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTACCCGATCGATCAGATCGA	0.488000													19	47					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488401	137488401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137488401C>A	ENST00000254900.5	-	21	2997	c.2626G>T	c.(2626-2628)Gac>Tac	p.D876Y		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	876					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.D876Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACTCAGAGTCATTGGGATGA	0.458000													8	109					0.27861	0.279356	1	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115527103	115527103	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115527103G>T	ENST00000361048.1	+	5	551		c.e5-1		PLEKHS1_ENST00000369310.3_Splice_Site|PLEKHS1_ENST00000369312.4_Splice_Site	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		ATATCTAATAGAAATTCCAGT	0.338000													7	17					8.12818e-05	8.79784e-05	1	1	0
PCDHGA2	0	broad.mit.edu	37	5	140718783	140718783	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140718783G>A	ENST00000394576.2	+	1	245	c.245G>A	c.(244-246)gGc>gAc	p.G82D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAAGCGGCAGCTTGGTC	0.572000													47	99					0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25194715	25194715	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25194715A>G	ENST00000264711.2	-	1	248	c.59T>C	c.(58-60)aTc>aCc	p.I20T	DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	20					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCATGGAGATGACTTTGAT	0.677000													11	17					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101605492	101605492	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101605492T>C	ENST00000370449.4	+	29	4212	c.4099T>C	c.(4099-4101)Tcc>Ccc	p.S1367P		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1367	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGATATTGCTTCCATTGGGCT	0.527000											OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0
PPM1M	132160	broad.mit.edu	37	3	52283790	52283790	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52283790T>G	ENST00000323588.4	+	10	1222	c.857T>G	c.(856-858)aTt>aGt	p.I286S	PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000457351.2_Missense_Mutation_p.I447S|PPM1M_ENST00000409502.3_Missense_Mutation_p.I235S			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTGTTCGTGATTCCCTTGCAC	0.552000													7	39					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140057544	140057544	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140057544C>A	ENST00000504366.1	-	5	2191	c.372G>T	c.(370-372)aaG>aaT	p.K124N	HARS_ENST00000504156.1_Missense_Mutation_p.K193N|HARS_ENST00000415192.2_Missense_Mutation_p.K119N|HARS_ENST00000438307.2_Missense_Mutation_p.K153N|HARS_ENST00000431330.2_Missense_Mutation_p.K79N|HARS_ENST00000307633.3_Missense_Mutation_p.K133N|HARS_ENST00000457527.2_Missense_Mutation_p.K173N|HARS_ENST00000448240.1_Missense_Mutation_p.K31N			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	193					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CGCACATGATCTTCAGGCACT	0.532000													16	30					1.02788e-11	1.28326e-11	1	1	0
TSC22D1	8848	broad.mit.edu	37	13	45010884	45010884	+	Translation_Start_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45010884A>C	ENST00000261489.2	-	0	97				TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN	TSC22 domain family, member 1						transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGCAGCCCTAATTTAAAGAA	0.537000													12	43					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104746064	104746064	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104746064G>T	ENST00000334877.4	+	18	2909	c.2375G>T	c.(2374-2376)aGa>aTa	p.R792I	KMT2E_ENST00000257745.4_Missense_Mutation_p.R792I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.R792I					lysine (K)-specific methyltransferase 2E									p.R792K(1)									CATTATATTAGATTTACTTCA	0.368000													11	82					0.0692343	0.0701576	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167185068	167185068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167185068C>A	ENST00000476257.1	-	4	551	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.E85*			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	85					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACAAAAAATTCTTCCCCTAGA	0.328000													7	18					0.00198382	0.00207034	1	1	0
C8orf33	65265	broad.mit.edu	37	8	146279537	146279537	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:146279537C>A	ENST00000331434.6	+	5	798	c.684C>A	c.(682-684)ttC>ttA	p.F228L		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	228										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GGTTCAATTTCTTTTAGCGTC	0.512000													55	114					1.27862e-28	1.81741e-28	1	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933532	209933532	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209933532A>G	ENST00000367024.1	+	3	664	c.148A>G	c.(148-150)Agg>Ggg	p.R50G	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R50G			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	50						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACGCTGAGGATCCAACA	0.597000													14	31					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324590	61324590	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61324590G>T	ENST00000283752.5	-	6	669	c.526C>A	c.(526-528)Ctt>Att	p.L176I	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L176I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	176					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCGTTCACAAGAACCAATGTG	0.323000													4	65					1	1	1	1	0
SGK3	23678	broad.mit.edu	37	8	67710856	67710856	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67710856A>C	ENST00000396596.1	+	3	390	c.176A>C	c.(175-177)aAc>aCc	p.N59T	SGK3_ENST00000345714.4_Missense_Mutation_p.N59T|SGK3_ENST00000520976.1_Missense_Mutation_p.N59T|SGK3_ENST00000522398.1_Missense_Mutation_p.N59T|SGK3_ENST00000521198.2_Missense_Mutation_p.N59T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.N59T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	59	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAACTTTATAACACTGTAAGT	0.308000													46	61					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62893985	62893985	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:62893985T>G	ENST00000253401.6	-	6	1657	c.857A>C	c.(856-858)gAa>gCa	p.E286A	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E233A|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E265A|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E184A|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E57A|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E284A	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	286	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCGCTTGCGTTCGTTGATCTG	0.458000													9	58					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542507	21542507	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21542507C>T	ENST00000298694.4	+	3	745	c.618C>T	c.(616-618)ccC>ccT	p.P206P	ARHGEF40_ENST00000298693.3_Silent_p.P206P			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	206					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGAACTGCCCTCTGGACCTC	0.622000													18	42					0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30797902	30797902	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30797902C>A	ENST00000375749.3	+	2	215	c.153C>A	c.(151-153)ttC>ttA	p.F51L	POFUT1_ENST00000375730.3_Missense_Mutation_p.F51L|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	51					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGATCACTTCTTGGGCTCTC	0.552000													7	129					8.12818e-05	8.79784e-05	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151162927	151162927	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151162927C>A	ENST00000282466.3	-	4	4841	c.4842G>T	c.(4840-4842)aaG>aaT	p.K1614N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1614					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTTGTGTTCTTCTGTCCAT	0.418000													33	52					1.99505e-19	2.71627e-19	1	1	0
GTF2H4	2968	broad.mit.edu	37	6	30881673	30881673	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30881673G>T	ENST00000259895.4	+	14	1525	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	GTF2H4_ENST00000376316.2_Missense_Mutation_p.E434D	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	434					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCGTGTTCGAGAACTCGGCCA	0.632000								Nucleotide excision repair (NER)					24	7					3.83957e-06	4.27438e-06	1	1	0
FANCI	55215	broad.mit.edu	37	15	89817466	89817466	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89817466A>C	ENST00000310775.7	+	12	1129	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	FANCI_ENST00000300027.8_Missense_Mutation_p.K348T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	348					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGGCTCAAAATTTCTTCAG	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	9					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318387	41318387	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41318387G>T	ENST00000357137.4	+	8	1190	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R346I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	369					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGATCCAAAGAGATTGTTTG	0.473000													5	195					0.000602214	0.000636035	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72771853	72771853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72771853G>T	ENST00000261180.4	+	3	1228	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	378					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAGATTAATAGAATTTTATGA	0.328000													14	53					0.00400662	0.0041636	1	1	0
PLCE1	51196	broad.mit.edu	37	10	96073057	96073057	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96073057C>T	ENST00000260766.3	+	28	6684	c.6050C>T	c.(6049-6051)aCg>aTg	p.T2017M	PLCE1_ENST00000371380.2_Missense_Mutation_p.T2017M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T1709M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T1709M	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2017	Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACAGAGTCACGGTGCATGGG	0.458000													30	66					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21859710	21859710	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21859710A>C	ENST00000399982.2	-	35	7041	c.6977T>G	c.(6976-6978)cTg>cGg	p.L2326R	CHD8_ENST00000557364.1_Missense_Mutation_p.L2326R|CHD8_ENST00000430710.3_Missense_Mutation_p.L2047R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2326					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCACCCACCAGCAAAGTACC	0.552000													12	28					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091280	34091280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34091280C>T	ENST00000397527.1	+	30	5803	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1639*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1695	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGAGAGAGCGAGGCCGGGA	0.592000													52	99					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085753	9085753	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9085753G>T	ENST00000397910.4	-	1	6265	c.6062C>A	c.(6061-6063)tCt>tAt	p.S2021Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2021	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCCAGAAGAGACTGAATT	0.468000													33	64					8.73648e-17	1.16604e-16	1	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21422631	21422631	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21422631G>T	ENST00000307378.6	-	16	2584	c.1864C>A	c.(1864-1866)Ctt>Att	p.L622I	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	622					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCCTCAAAAGAATTAAGATG	0.358000													34	53					9.93527e-08	1.15593e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179613073	179613073	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179613073C>T	ENST00000360870.5	-	46	14276	c.14054G>A	c.(14053-14055)aGa>aAa	p.R4685K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	800	Ig-like 27.						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)			CACCATAGTTCTATTTGAAAG	0.328000													26	46					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51205732	51205732	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51205732T>G	ENST00000293441.1	-	11	1757	c.1739A>C	c.(1738-1740)aAg>aCg	p.K580T	SHANK1_ENST00000359082.3_Missense_Mutation_p.K580T|SHANK1_ENST00000391814.1_Missense_Mutation_p.K580T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	580	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGATCTTCTCGCCCTT	0.627000													4	25					0	0	1	0	0
MLK4	0	broad.mit.edu	37	1	233498022	233498022	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:233498022G>A	ENST00000366624.3	+	5	1796	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	MLK4_ENST00000366623.3_Missense_Mutation_p.R512Q	NM_032435.2	NP_115811.2																					GATGGACATCGAATCAGTTTA	0.363000													7	60					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14607452	14607452	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14607452T>C	ENST00000274217.3	+	6	632	c.512T>C	c.(511-513)cTg>cCg	p.L171P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	171										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CCTGAAAAACTGCTGTTTTCA	0.378000													23	35					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038888	31038888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31038888G>A	ENST00000355537.3	+	4	2509	c.2362G>A	c.(2362-2364)Ggc>Agc	p.G788S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGACTATGCCGGCACGCAGTC	0.507000													24	53					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26085155	26085155	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26085155C>A	ENST00000374332.4	+	6	1332	c.1002C>A	c.(1000-1002)ttC>ttA	p.F334L	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000374329.1_Missense_Mutation_p.F105L|MAN1C1_ENST00000263979.3_Missense_Mutation_p.F154L	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	334					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACTTGGAATTCTTACACCTCA	0.587000													25	58					5.45024e-15	7.15042e-15	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180334405	180334405	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334405G>A	ENST00000442201.2	-	18	2604	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	829					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCATTTCACGAAGTTTGATG	0.313000													3	5					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560867	32560867	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32560867T>C	ENST00000345122.3	+	2	1307	c.992T>C	c.(991-993)aTa>aCa	p.I331T	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I331T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	331					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGGAACATATAAGAAAAAGG	0.313000													23	37					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169820792	169820792	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169820792G>T	ENST00000263817.6	-	18	2226	c.2102C>A	c.(2101-2103)tCt>tAt	p.S701Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	701					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAAAGCTGAGACTTGGAGCG	0.463000													3	4					0.014758	0.015099	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153220472	153220472	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153220472G>A	ENST00000310441.7	-	17	4344	c.3378C>T	c.(3376-3378)agC>agT	p.S1126S	HCFC1_ENST00000354233.3_Silent_p.S1057S|HCFC1_ENST00000369984.4_Silent_p.S1126S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1126					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)					TGGCGCCGACGCTCGACATGG	0.687000													14	30					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70881033	70881033	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70881033G>A	ENST00000333538.5	+	4	1382	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	250	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCCCACGTGGAATTCACCGC	0.567000													18	45					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64430710	64430710	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64430710A>C	ENST00000358025.3	+	10	1212	c.982A>C	c.(982-984)Aag>Cag	p.K328Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.K328Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K328Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	328					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)		CTACTTTAAAAAGTATAATGT	0.318000													12	14					0	0	1	0	0
FAM98B	283742	broad.mit.edu	37	15	38766438	38766438	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:38766438G>A	ENST00000397609.2	+	6	703	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	FAM98B_ENST00000491535.1_Missense_Mutation_p.R223Q	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	223						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TGCCGCCGACGAATGTTAATG	0.378000													33	75					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166985488	166985488	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166985488T>C	ENST00000367872.4	+	9	1119	c.875T>C	c.(874-876)cTc>cCc	p.L292P	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L261P	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	292					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATGATATTCTCTTCTGTGCT	0.348000													4	55					0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40730378	40730378	+	Missense_Mutation	SNP	C	C	T	rs144481517	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40730378C>T	ENST00000337702.4	-	3	441	c.289G>A	c.(289-291)Gag>Aag	p.E97K	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	97							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATTTCATCTCGTATAGGGTA	0.358000													19	34					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140229206	140229206	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229206G>A	ENST00000378122.3	+	1	1850	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D376N|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	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)			TAGTGTGATCGACCTAGACGC	0.512000													41	108					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604646	237604646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237604646G>T	ENST00000366574.2	+	13	1350	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E343*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E329*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	345					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGAGAAAAGAAGTAGATGG	0.388000													20	40					1.64113e-05	1.80518e-05	1	1	0
ATP9B	374868	broad.mit.edu	37	18	76953202	76953202	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76953202C>T	ENST00000426216.2	+	9	910	c.893C>T	c.(892-894)gCt>gTt	p.A298V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A298V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	298					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCTATCAGTGCTTATGTTTAT	0.318000													6	45					0	0	1	0	0
EZH2	0	broad.mit.edu	37	7	148543633	148543633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148543633C>A	ENST00000320356.2	-	3	296	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	EZH2_ENST00000350995.2_Nonsense_Mutation_p.E59*|EZH2_ENST00000478654.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000476773.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000460911.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000541220.1_Nonsense_Mutation_p.E59*	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	59	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTTCCATTCTTGGTTTAAG	0.383000			Mis		DLBCL								21	29					1.28384e-07	1.48174e-07	1	1	0
ZNF277	11179	broad.mit.edu	37	7	111976201	111976201	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111976201C>T	ENST00000361822.3	+	8	973	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	282						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAAGATGATCGGGAGTTGCT	0.413000													13	39					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185278208	185278208	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185278208T>G	ENST00000367498.3	-	4	830	c.208A>C	c.(208-210)Att>Ctt	p.I70L	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I70L|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	70	BTB.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACGTGAGAAATTCCATGAGGA	0.378000													11	21					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88910206	88910206	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88910206C>A	ENST00000347404.5	-	5	997	c.425G>T	c.(424-426)aGa>aTa	p.R142I	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.R142I|KITLG_ENST00000357116.4_Intron	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	142					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATTAAAAATTCTAAAGAATTC	0.343000									Testicular Cancer, Familial Clustering of				14	37					1.36491e-13	1.75346e-13	1	1	0
CABYR	26256	broad.mit.edu	37	18	21736538	21736538	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21736538A>C	ENST00000399481.2	+	2	931	c.779A>C	c.(778-780)aAa>aCa	p.K260T	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	358					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ATGTCTAAAAAATCTGTAGAG	0.408000													25	62					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77969638	77969638	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77969638A>G	ENST00000237654.4	-	7	1444	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	CCNI_ENST00000537948.1_Missense_Mutation_p.S276P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	290					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TTGTCCTTGGAGAAGTCTGGG	0.532000													41	60					0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	747067	747067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:747067C>A	ENST00000397621.1	-	2	670	c.339G>T	c.(337-339)gaG>gaT	p.E113D	FBXL16_ENST00000324361.5_Missense_Mutation_p.E113D	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	113	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCACACACTTCTCGCAGGCCG	0.662000													19	42					0.000175454	0.000188314	1	1	0
SLC39A9	55334	broad.mit.edu	37	14	69866118	69866118	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69866118C>T	ENST00000031146.4	+	1	710	c.32C>T	c.(31-33)tCt>tTt	p.S11F	SLC39A9_ENST00000557046.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000556605.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.S11F			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	11					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCTGCTGTCTCTGGCTATG	0.438000													5	15					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25297311	25297311	+	Silent	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25297311A>T	ENST00000354189.5	-	9	1199	c.1164T>A	c.(1162-1164)atT>atA	p.I388I	CASC1_ENST00000395990.2_Silent_p.I284I|CASC1_ENST00000320267.9_Silent_p.I324I|CASC1_ENST00000537577.1_Silent_p.I212I|CASC1_ENST00000395987.3_Silent_p.I330I|CASC1_ENST00000545133.1_Silent_p.I265I|CASC1_ENST00000557684.1_5'UTR	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	324										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTTCACTTCAATATCACCTT	0.353000													44	86					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180406	57180406	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57180406A>G	ENST00000504228.1	+	6	843	c.738A>G	c.(736-738)agA>agG	p.R246R	KIAA1211_ENST00000264229.6_Silent_p.R246R|KIAA1211_ENST00000541073.1_Silent_p.R239R			Q6ZU35	K1211_HUMAN	KIAA1211	246	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGAGAAGAGACGCCTAGAGG	0.612000													8	14					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854917	4854917	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:4854917A>C	ENST00000302640.8	+	56	7865	c.7516_splice	c.e56+1	p.E2505_splice	ITPR1_ENST00000357086.4_Splice_Site_p.E2472_splice|ITPR1_ENST00000544951.1_Splice_Site_p.E483_splice|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Splice_Site_p.E2505_splice|ITPR1_ENST00000456211.2_Splice_Site_p.E2457_splice|ITPR1_ENST00000443694.2_Splice_Site_p.E2505_splice|ITPR1_ENST00000423119.2_Splice_Site_p.E2472_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2520	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CACCCAGAGAAGGTAGGACCT	0.517000													8	79					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48139468	48139468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48139468C>A	ENST00000381501.3	-	18	2018	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	621	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCAACTAGTTCATCTATTGTG	0.433000													18	25					9.16793e-09	1.08598e-08	1	1	0
EVC2	132884	broad.mit.edu	37	4	5564756	5564756	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5564756A>T	ENST00000310917.2	-	22	4237	c.3506T>A	c.(3505-3507)aTt>aAt	p.I1169N	EVC2_ENST00000344408.5_Missense_Mutation_p.I1249N|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448000													39	96					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562646	145562646	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145562646A>G	ENST00000355594.4	+	10	2421	c.2334A>G	c.(2332-2334)caA>caG	p.Q778Q		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	778										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCCCCCCAAGTGGCCGCTC	0.627000													7	5					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228304	6228304	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6228304T>C	ENST00000262450.3	-	2	212	c.113A>G	c.(112-114)gAc>gGc	p.D38G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	38					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)		AGGGAAAAAGTCATCGAAGGC	0.493000													55	120					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997159	2997159	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2997159G>A	ENST00000489288.2	+	3	403	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.R70Q	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		CACTCAAGTCGAAAACCTACC	0.453000													11	21					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78401718	78401718	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401718A>C	ENST00000330010.8	+	10	1567	c.1270A>C	c.(1270-1272)Aat>Cat	p.N424H	NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.N474H|NEXN_ENST00000334785.7_Missense_Mutation_p.N488H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	488	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGAAGCTGAAAATTTTCATGA	0.294000													14	25					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939559	22939559	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22939559T>G	ENST00000397104.3	-	7	2611	c.2612A>C	c.(2611-2613)aAt>aCt	p.N871T						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)				GGTTGAGGAATTGTTAAAAGC	0.358000													16	35					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881756	30881756	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:30881756T>G	ENST00000251071.5	-	8	2358	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E203D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E536D|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E536D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	536					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGAATCCTGTTCTTCACACA	0.433000													32	86					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179294470	179294470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179294470G>T	ENST00000429709.2	+	7	847	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E170*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	212					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACTCTTCCAAGAAATGAATAT	0.378000													22	56					7.45023e-12	9.31775e-12	1	1	0
ZNF620	253639	broad.mit.edu	37	3	40558152	40558152	+	Missense_Mutation	SNP	G	G	A	rs149375136		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40558152G>A	ENST00000314529.6	+	5	1216	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	ZNF620_ENST00000418905.1_Missense_Mutation_p.R242Q	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGCATCAGCGAATTCACACT	0.473000													28	49					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68378827	68378827	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68378827A>G	ENST00000545237.1	+	3	955	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	PIAS1_ENST00000249636.6_Missense_Mutation_p.M70V			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	70					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACAGAAAATCATGACGCCTGC	0.478000													36	71					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31829935	31829935	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31829935T>C	ENST00000331457.4	+	9	1243	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	361					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GATGAGGATGTCATTCAAATT	0.478000													14	29					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123534041	123534041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123534041C>A	ENST00000264497.3	-	4	460	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	128					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	p.E135*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAGGAATTCTTTGGGTGGT	0.299000													15	24					7.93312e-07	8.98086e-07	1	1	0
DLG5	9231	broad.mit.edu	37	10	79595622	79595622	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:79595622C>T	ENST00000372391.2	-	8	1501	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	499					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)			GCACTGCTTTCGAAGGATTTC	0.597000													20	52					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210940291	210940291	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210940291A>C	ENST00000281772.9	-	6	2003	c.1740T>G	c.(1738-1740)ttT>ttG	p.F580L	KANSL1L_ENST00000452086.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F580L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	580																	GAGTCCAATAAAAAGTAGGGC	0.403000													8	14					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031554	87031554	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87031554T>A	ENST00000370563.3	+	6	847	c.805T>A	c.(805-807)Ttt>Att	p.F269I	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	269						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAAGTGCAATTTTAGAAGTAC	0.343000													25	34					0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458846	37458846	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37458846G>A	ENST00000328376.5	+	5	1068	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	C3orf35_ENST00000426078.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.R30Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	30						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGTGCGCCCGAACTTTTCAC	0.433000													42	88					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667524	157667524	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157667524G>T	ENST00000368184.3	-	5	775	c.484C>A	c.(484-486)Cat>Aat	p.H162N	FCRL3_ENST00000368186.5_Missense_Mutation_p.H162N|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	162	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCAGTACAATGATATTTGCTA	0.338000													28	42					4.43304e-23	6.18842e-23	1	1	0
FGD6	55785	broad.mit.edu	37	12	95531303	95531303	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95531303A>G	ENST00000343958.4	-	7	3212	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	FGD6_ENST00000549499.1_Missense_Mutation_p.F997L|FGD6_ENST00000546711.1_Missense_Mutation_p.F997L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	997	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATACCTCAAATTCTCTAACA	0.328000													26	35					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547186	37547186	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37547186G>A	ENST00000299824.1	+	11	1770	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	PPP1R16B_ENST00000373331.2_Silent_p.P485P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	527					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAACTTCACCGTACAGCAGCA	0.587000													18	43					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179915	74179915	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74179915T>C	ENST00000316836.3	-	1	1213	c.428A>G	c.(427-429)tAt>tGt	p.Y143C		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	143					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		atccaaaatatagtttagcat	0.532000													54	72					0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82698747	82698747	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82698747G>A	ENST00000533486.1	-	5	527	c.243C>T	c.(241-243)agC>agT	p.S81S	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.S81S|RAB30_ENST00000532548.1_Silent_p.S81S|RAB30_ENST00000525117.1_Silent_p.S53S|RAB30_ENST00000534141.1_Silent_p.S81S|RAB30_ENST00000260056.2_Silent_p.S81S	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	81					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGCATTGGCGCTTCGGTAGT	0.483000													11	78					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086776	109086776	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109086776A>C	ENST00000309863.6	+	6	1705	c.991A>C	c.(991-993)Aat>Cat	p.N331H		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	331					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACAAGTAGTAAATGAAAAAGT	0.289000													19	40					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507000													12	26					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94703807	94703807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94703807G>A	ENST00000397809.5	-	16	2437	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R630*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	622										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTAGACTTCGAAATTCATTA	0.348000													6	56					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106713223	106713223	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106713223C>A	ENST00000283148.7	-	14	1194	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	UXS1_ENST00000540130.1_Missense_Mutation_p.R304I|UXS1_ENST00000409501.3_Missense_Mutation_p.R361I|UXS1_ENST00000409032.1_Missense_Mutation_p.R193I	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	361					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GTCTGGTTTTCTTTTCTGTGG	0.488000													3	6					0.004672	0.00483628	1	1	0
RRBP1	6238	broad.mit.edu	37	20	17640992	17640992	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:17640992T>C	ENST00000377813.1	-	3	464	c.161A>G	c.(160-162)cAc>cGc	p.H54R	RRBP1_ENST00000377807.2_Missense_Mutation_p.H54R|RRBP1_ENST00000360807.4_Missense_Mutation_p.H54R|RRBP1_ENST00000246043.4_Missense_Mutation_p.H54R|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	54					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						GACTTTCTGGTGGTGAGTTTT	0.448000													3	22					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243645	56243645	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56243645C>A	ENST00000332836.2	-	2	1579	c.1552G>T	c.(1552-1554)Gac>Tac	p.D518Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	518						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTTTAGGTCTTTTGACAGT	0.418000													41	63					2.19489e-29	3.12373e-29	1	1	0
FYN	2534	broad.mit.edu	37	6	111983095	111983095	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111983095G>A	ENST00000354650.3	-	14	2067	c.1461C>T	c.(1459-1461)tgC>tgT	p.C487C	FYN_ENST00000368667.2_Silent_p.C487C|FYN_ENST00000356013.2_Silent_p.C432C|FYN_ENST00000229471.4_Silent_p.C432C|FYN_ENST00000368682.3_Silent_p.C484C|FYN_ENST00000538466.1_Silent_p.C484C|FYN_ENST00000368678.4_Silent_p.C484C|FYN_ENST00000229470.5_Silent_p.C435C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	487	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGTCCTGCGGGCAGGGCATCC	0.597000													43	86					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11018149	11018149	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:11018149C>T	ENST00000304623.8	-	18	3210	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.K916K|CTNND2_ENST00000458100.2_Silent_p.K574K|CTNND2_ENST00000359640.2_Silent_p.K949K|CTNND2_ENST00000503622.1_Silent_p.K670K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1007					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						GAGATGCAGCCTTGACCACTT	0.473000													7	35					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29261312	29261312	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29261312A>G	ENST00000330889.3	+	5	842	c.507A>G	c.(505-507)gaA>gaG	p.E169E	ADAP2_ENST00000580525.1_Silent_p.E175E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	169	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCACAAAGGAACAGGTAAGAT	0.473000													9	22					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121151136	121151136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:121151136C>T	ENST00000344651.4	+	2	344	c.304C>T	c.(304-306)Cga>Tga	p.R102*	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	102										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCAAAATTCGAGATTTGGA	0.403000													15	42					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131412	202131412	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202131412G>A	ENST00000358485.4	+	2	576	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	CASP8_ENST00000264274.9_Missense_Mutation_p.R68Q|CASP8_ENST00000264275.5_Missense_Mutation_p.R68Q|CASP8_ENST00000323492.7_Missense_Mutation_p.R68Q|CASP8_ENST00000432109.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392266.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392258.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392259.2_Missense_Mutation_p.R68Q	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTCTTCCGAATTAATAGA	0.453000										HNSCC(4;0.00038)			13	32					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360548	72360548	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72360548G>A	ENST00000441259.1	-	2	271	c.111C>T	c.(109-111)ttC>ttT	p.F37F	PRF1_ENST00000373209.2_Silent_p.F37F	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	37	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CACCAGGCACGAACTTGTGGC	0.687000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				7	29					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180565	65180565	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65180565T>C	ENST00000310045.7	-	2	2784	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	427						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTTGGTCTGTGTGTTTGGCA	0.483000													14	33					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158562	106158562	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106158562T>C	ENST00000305737.2	+	3	3867	c.3463T>C	c.(3463-3465)Tta>Cta	p.L1155L	TET2_ENST00000545826.1_Intron|TET2_ENST00000540549.1_Intron|TET2_ENST00000413648.2_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000394764.1_Silent_p.L1155L|TET2_ENST00000380013.4_Intron	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTAGCAAATTTATCTTCAGA	0.353000			"""Mis N, F"""		MDS								16	30					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739598	15739598	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15739598G>A	ENST00000441682.2	+	0	1403							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCGACCCAGAAAACGCCCA	0.602000													28	60					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75156775	75156775	+	Nonsense_Mutation	SNP	C	C	A	rs75912309		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:75156775C>A	ENST00000342232.4	-	4	1934	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	632					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAATTGGCTTCTTTTTCCAAA	0.433000													35	82					3.6622e-26	5.17531e-26	1	1	0
ISG20L2	81875	broad.mit.edu	37	1	156697363	156697363	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156697363A>C	ENST00000313146.6	-	1	864	c.82T>G	c.(82-84)Ttt>Gtt	p.F28V	ISG20L2_ENST00000368219.1_Missense_Mutation_p.F28V	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	28					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGACAAAATTTCGGTGC	0.468000													46	61					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262683	248262683	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248262683G>T	ENST00000366478.2	+	3	343	c.6G>T	c.(4-6)gaG>gaT	p.E2D	OR2L13_ENST00000358120.2_Missense_Mutation_p.E2D	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TTTTCATGGAGAAATGGAATC	0.333000													21	35					7.41877e-09	8.8016e-09	1	1	0
C9orf43	257169	broad.mit.edu	37	9	116187673	116187673	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187673G>A	ENST00000288462.4	+	10	1361	c.915G>A	c.(913-915)aaG>aaA	p.K305K	C9orf43_ENST00000374165.1_Silent_p.K305K	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	305								p.K305N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcaacagAAGAAGGTGAAAA	0.542000													19	48					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649284	74649284	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74649284C>A	ENST00000354431.4	-	2	276	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D29Y	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	29										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aaaacaAAATCTTTTTGACCT	0.333000													9	10					0.00621372	0.0064192	1	1	0
HRNR	388697	broad.mit.edu	37	1	152193031	152193031	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152193031G>T	ENST00000368801.2	-	3	1149	c.1074C>A	c.(1072-1074)tcC>tcA	p.S358S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	358					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)			TATAGCCAGAGGACTGTCCTG	0.547000													53	139					7.77372e-23	1.08358e-22	1	1	0
CXXC1	30827	broad.mit.edu	37	18	47809356	47809356	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47809356G>A	ENST00000589940.1	-	14	1716	c.1655C>T	c.(1654-1656)gCg>gTg	p.A552V	CXXC1_ENST00000412036.2_Silent_p.C568C|CXXC1_ENST00000285106.6_Silent_p.C564C			Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	0					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGGGCACCCGCATACCTCGT	0.592000													23	46					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76645304	76645304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76645304G>T	ENST00000264917.5	+	8	982	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	PDE8B_ENST00000342343.4_Nonsense_Mutation_p.E293*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.E313*|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	313	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTGGGAAAAGAACTCGCTGA	0.502000													30	64					8.58068e-18	1.15595e-17	1	1	0
ZNF629	23361	broad.mit.edu	37	16	30793260	30793260	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30793260T>C	ENST00000262525.4	-	3	2596	c.2389A>G	c.(2389-2391)Aat>Gat	p.N797D		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCCTCGGGATTGGGGGGTTTT	0.657000													10	135					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58137338	58137338	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137338G>A	ENST00000184956.6	-	10	1552	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	HEATR6_ENST00000585976.1_Silent_p.I512I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	512							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGCTGCAAGCGATCATTACGG	0.443000													82	153					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228111950	228111950	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:228111950G>A	ENST00000272164.5	-	3	514	c.504C>T	c.(502-504)tgC>tgT	p.C168C	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	168					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GGTTGTCTCCGCAGCCCCCCC	0.627000													73	107					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69084386	69084386	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69084386C>A	ENST00000539906.1	+	4	320	c.76C>A	c.(76-78)Ctt>Att	p.L26I	NUP107_ENST00000229179.4_Intron|NUP107_ENST00000378905.2_Intron			P57740	NU107_HUMAN	nucleoporin 107kDa	0					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTTTAGGTTCTTTCTACCAA	0.378000													20	40					1.00905e-13	1.29777e-13	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21974699	21974699	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21974699C>A	ENST00000304494.5	-	1	398	c.128G>T	c.(127-129)aGt>aTt	p.S43I	CDKN2A_ENST00000579122.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.S43I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	43					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCGTAACTATTCGGTGC	0.687000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	143					3.32936e-07	3.80431e-07	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111584871	111584871	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111584871C>T	ENST00000428084.1	-	10	1111	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	DOCK4_ENST00000437633.1_Missense_Mutation_p.R280Q|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	280					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTACCGATTCGGATAATGTG	0.418000													6	24					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50326626	50326626	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50326626A>C	ENST00000394697.2	+	5	917	c.577A>C	c.(577-579)Aca>Cca	p.T193P	ADCY7_ENST00000538642.1_Missense_Mutation_p.T193P|ADCY7_ENST00000537579.1_Missense_Mutation_p.T193P|ADCY7_ENST00000566433.2_Missense_Mutation_p.T193P|ADCY7_ENST00000254235.3_Missense_Mutation_p.T193P|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	193					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGGAACCTGACAGGCGCCTT	0.597000													23	55					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020296	56020296	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020296C>A	ENST00000303059.3	+	1	621	c.621C>A	c.(619-621)gtC>gtA	p.V207V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTAGGCATGTCTTTTGTGATA	0.408000													70	122					1.26778e-28	1.80291e-28	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108380999	108380999	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108380999G>T	ENST00000265843.4	-	6	5345	c.5235C>A	c.(5233-5235)ttC>ttA	p.F1745L	EXPH5_ENST00000428840.1_Missense_Mutation_p.F1669L|EXPH5_ENST00000443411.1_Missense_Mutation_p.F1557L|EXPH5_ENST00000525344.1_Missense_Mutation_p.F1738L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1745					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GATTGTCAGAGAATTCTGCTT	0.488000													38	78					1.06647e-15	1.40869e-15	1	1	0
KCMF1	56888	broad.mit.edu	37	2	85255047	85255047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85255047C>T	ENST00000409785.3	+	2	411	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	18						intracellular	ligase activity|zinc ion binding			ovary(3)	3						AGGAAATTTTCGAGGTCGCAG	0.353000													12	17					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101873373	101873373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101873373C>A	ENST00000551346.1	+	4	270	c.111C>A	c.(109-111)taC>taA	p.Y37*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.Y37*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGAAATTACCTGGCTTTAA	0.338000													16	26					1.67942e-08	1.98515e-08	1	1	0
PHACTR1	221692	broad.mit.edu	37	6	12933942	12933942	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:12933942G>A	ENST00000379348.2	+	4	505	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCTTGGGCTCGAACTGTGTTC	0.532000													67	26					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56604289	56604289	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56604289G>A	ENST00000426861.1	-	2	140	c.54C>T	c.(52-54)ttC>ttT	p.F18F	SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000457347.2_Silent_p.F52F|SEPT4_ENST00000412945.3_Silent_p.F29F|SEPT4_ENST00000393086.1_Silent_p.F18F|SEPT4_ENST00000317256.6_Silent_p.F18F|SEPT4_ENST00000317268.3_Silent_p.F37F	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	37					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.F37F(1)		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)					AATCCTTCACGAACTTGCTCA	0.617000													41	68					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405395	1405395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:1405395C>T	ENST00000381312.1	-	3	1230	c.905G>A	c.(904-906)cGc>cAc	p.R302H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	302	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCTCCGCGCGCGCCGCTCGGC	0.761000													3	10					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606093	21606093	+	Missense_Mutation	SNP	G	G	A	rs145782852		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606093G>A	ENST00000392288.2	+	4	741	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	ZNF493_ENST00000355504.4_Missense_Mutation_p.R83Q|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R83Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCTTACCGATGTGAAGAA	0.353000													14	34					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275979	114275979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275979C>T	ENST00000357077.4	+	38	6258	c.6205C>T	c.(6205-6207)Cgt>Tgt	p.R2069C	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2036C|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2036					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGGAGTTCGTGTTTCCTC	0.468000													9	169					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365879	88365879	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88365879C>A	ENST00000518476.1	+	10	1219	c.1168C>A	c.(1168-1170)Ctt>Att	p.L390I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	390										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATCTCAAAAACTTGTTTATAT	0.318000													19	21					2.4624e-09	2.95225e-09	1	1	0
LRRC1	55227	broad.mit.edu	37	6	53785453	53785453	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:53785453A>C	ENST00000370888.1	+	13	1587	c.1310A>C	c.(1309-1311)aAc>aCc	p.N437T	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	437						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCACTGGAGAACTTGGTAAAT	0.463000													10	46					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126141541	126141541	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126141541C>T	ENST00000263578.5	+	2	369	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R85W|FOXRED1_ENST00000442061.2_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	99						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTGGTGGAACGGGACCACAC	0.547000													18	46					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150099289	150099289	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150099289G>A	ENST00000447998.2	-	10	1067	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	DCTN4_ENST00000424236.1_Missense_Mutation_p.R261C|DCTN4_ENST00000446090.2_Missense_Mutation_p.R325C	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	318						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGTAGCGAAGGTTGGGA	0.348000													12	19					0	0	1	0	0
NTS	4922	broad.mit.edu	37	12	86276047	86276047	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86276047A>C	ENST00000256010.6	+	4	514	c.407A>C	c.(406-408)aAg>aCg	p.K136T	NTS_ENST00000551529.1_Missense_Mutation_p.K61T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	136					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						AAAAATGGAAAGGAAGAAGTC	0.318000													16	35					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775278	38775278	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38775278G>T	ENST00000308973.4	-	4	2539	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TLR10_ENST00000361424.2_Missense_Mutation_p.S645Y|TLR10_ENST00000508334.1_Missense_Mutation_p.S645Y|TLR10_ENST00000506111.1_Missense_Mutation_p.S645Y	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	645	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACCCACAGAGAATCATGTTC	0.403000													16	24					0.000422831	0.000449533	1	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92981795	92981795	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:92981795A>G	ENST00000268164.3	+	4	740	c.503A>G	c.(502-504)aAc>aGc	p.N168S	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N147S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	168					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTCTTGCTGAACAGCGGCTGT	0.602000													5	77					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187516777	187516777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187516777A>C	ENST00000261023.3	+	15	1740	c.1466A>C	c.(1465-1467)aAa>aCa	p.K489T	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.K443T|ITGAV_ENST00000374907.3_Missense_Mutation_p.K453T	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	489					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CAAGACAATAAAACCTGCTCA	0.388000													4	11					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95868101	95868101	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95868101C>A	ENST00000323666.5	+	1	375	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	METAP2_ENST00000261220.9_Missense_Mutation_p.S49Y|METAP2_ENST00000546753.1_Missense_Mutation_p.S49Y|METAP2_ENST00000551840.1_Missense_Mutation_p.S49Y|METAP2_ENST00000550777.1_Missense_Mutation_p.S49Y	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	49					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAAGGGCCTTCTGCAGGTAAA	0.577000													31	61					2.85442e-18	3.86477e-18	1	1	0
SNAPC2	6618	broad.mit.edu	37	19	7987561	7987561	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7987561C>T	ENST00000221573.6	+	5	968	c.917C>T	c.(916-918)tCg>tTg	p.S306L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	306					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GAACTGAAATCGCCTTGGCAA	0.682000													45	79					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135722020	135722020	+	Silent	SNP	C	C	A	rs144470120		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:135722020C>A	ENST00000264977.3	+	2	2297	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	560					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCTAAAGTCTCTTCACCCA	0.408000													21	40					1.96292e-10	2.40731e-10	1	1	0
TNIP3	79931	broad.mit.edu	37	4	122053790	122053790	+	Missense_Mutation	SNP	G	G	A	rs142456270		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122053790G>A	ENST00000454328.1	-	13	1201	c.974C>T	c.(973-975)cCg>cTg	p.P325L	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_3'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.P325L|TNIP3_ENST00000509841.1_3'UTR			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	325										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTACTTCTACGGATGGACTTT	0.408000													3	27					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764273	92764273	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92764273T>G	ENST00000318238.4	-	5	2228	c.1012A>C	c.(1012-1014)Aat>Cat	p.N338H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	338										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGAAAGATTTTGGTTTTGT	0.323000													15	88					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52347299	52347299	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52347299A>C	ENST00000296585.5	+	7	832	c.689A>C	c.(688-690)aAa>aCa	p.K230T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	230	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACACATATAAAACCAAAGAA	0.378000													17	30					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52976790	52976790	+	Translation_Start_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52976790G>T	ENST00000349258.4	-	0	490				THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_De_novo_Start_OutOfFrame	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1							extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCACGTCCAGATTGTGATTT	0.343000													10	15					9.70103e-10	1.17791e-09	1	1	0
CCDC144A	9720	broad.mit.edu	37	17	16612833	16612833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16612833G>T	ENST00000443444.2	+	5	1602	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E487*|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E488*			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	488																	CAGAACATCAGAAGTATATCT	0.353000													20	47					1.00905e-13	1.29777e-13	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160106452	160106452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160106452G>A	ENST00000361216.3	+	19	2745	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.D886N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	886					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AATCCGCCTCGACTGGGATGA	0.557000													43	69					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521461	131521461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:131521461C>T	ENST00000423981.1	+	2	1926	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.R606*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGAAGAGACACGAGGTCACTC	0.587000													39	61					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242264056	242264056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:242264056G>T	ENST00000442594.2	-	10	1501	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PLD5_ENST00000427495.1_Missense_Mutation_p.A361D|PLD5_ENST00000536534.1_Missense_Mutation_p.A423D	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	423						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTAGCACAAGCATTCTCTCT	0.393000													25	39					1.66031e-10	2.0393e-10	1	1	0
RP11-193H5.1	0	broad.mit.edu	37	1	238090414	238090414	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:238090414C>T	ENST00000450451.1	+	0	1920					NR_027247.2																						ATGAGCTGTGCGTGGCCCTGG	0.562000													21	44					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12243276	12243276	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:12243276G>A	ENST00000256194.4	+	10	1580	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	MICAL2_ENST00000527546.1_Missense_Mutation_p.G431D|MICAL2_ENST00000379612.3_Missense_Mutation_p.G431D|MICAL2_ENST00000342902.5_Missense_Mutation_p.G431D|MICAL2_ENST00000537344.1_Missense_Mutation_p.G431D	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	431						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGAACCAGGGCACCCCTCCC	0.602000													7	87					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67724382	67724382	+	Silent	SNP	A	A	G	rs139858085		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67724382A>G	ENST00000347310.5	+	11	1632	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.Q232Q	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	487					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						ATAAACCCCAAATTTCAAATT	0.388000													21	50					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34049726	34049726	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049726C>A	ENST00000389232.4	+	60	8704	c.8634C>A	c.(8632-8634)ttC>ttA	p.F2878L	RYR3_ENST00000415757.3_Missense_Mutation_p.F2878L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2878					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTCTACTTCTTGTCATCCC	0.498000													7	13					0.0293803	0.0299069	1	1	0
SLC25A6	293	broad.mit.edu	37	X	1506218	1506218	+	Silent	SNP	G	G	A	rs147482209	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1506218G>A	ENST00000381401.5	-	3	1407	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	231					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GCACCGTGTCGAAGGGGTAGG	0.682000													28	76					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65265596	65265596	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65265596A>C	ENST00000534336.1	+	0	364				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2																						AAACCCCTAAAAAAGCAGACC	0.473000													21	33					0	0	1	0	0
PTPN13	0	broad.mit.edu	37	4	87622929	87622929	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87622929T>C	ENST00000436978.1	+	7	1650	c.1170T>C	c.(1168-1170)gtT>gtC	p.V390V	PTPN13_ENST00000411767.2_Silent_p.V390V|PTPN13_ENST00000427191.2_Silent_p.V390V|PTPN13_ENST00000511467.1_Silent_p.V390V|PTPN13_ENST00000316707.6_Silent_p.V390V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	390						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AACTTCAGGTTCTGAGGGAAG	0.358000													17	41					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440834	124440834	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124440834C>T	ENST00000284287.3	+	1	942	c.870C>T	c.(868-870)gcC>gcT	p.A290A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AGAATGTGGCCTCTGTGTTCT	0.502000													25	58					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880412	74880412	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74880412G>A	ENST00000289575.5	+	5	1038	c.643G>A	c.(643-645)Gat>Aat	p.D215N	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D99N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D193N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D71N|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	215				D -> V (in Ref. 6).	sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTCCTACATCGATGACTTTGC	0.597000													20	44					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151774084	151774084	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151774084T>G	ENST00000535741.1	-	23	3251	c.2778A>C	c.(2776-2778)gaA>gaC	p.E926D	LRBA_ENST00000510413.1_Missense_Mutation_p.E926D|LRBA_ENST00000507224.1_Missense_Mutation_p.E926D|LRBA_ENST00000357115.3_Missense_Mutation_p.E926D			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	926						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTGTGTATTTCAAAAGTGA	0.313000													8	11					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694334	109694334	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109694334G>A	ENST00000465301.2	+	3	735	c.489G>A	c.(487-489)gaG>gaA	p.E163E	RGAG1_ENST00000540313.1_Silent_p.E163E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	163										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTCTGCAGAGATATCACCAT	0.478000													9	87					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934829	30934829	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30934829C>T	ENST00000355537.3	+	2	507	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGCGACATCGAGGACGACG	0.637000													19	39					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702655	181702655	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181702655C>A	ENST00000526775.1	+	20	3139	c.2974C>A	c.(2974-2976)Cct>Act	p.P992T	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P943T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1011T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1011T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P992T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P962T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P618T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1011					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCCCCATCCTGAGCTGGA	0.627000													12	25					5.50884e-06	6.10489e-06	1	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209182661	209182661	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:209182661A>C	ENST00000264380.4	+	16	2236	c.2078A>C	c.(2077-2079)aAa>aCa	p.K693T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	693					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATTGCACATAAAAAGGTAATG	0.378000													21	36					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230891101	230891101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230891101G>T	ENST00000354537.1	+	2	314	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.E78*|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	78	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAAAAACCCAGAATTCATTCT	0.537000													15	43					1.5739e-10	1.93697e-10	1	1	0
ZNF404	342908	broad.mit.edu	37	19	44377739	44377739	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44377739A>G	ENST00000587539.1	-	3	626	c.627T>C	c.(625-627)caT>caC	p.H209H	ZNF404_ENST00000324394.6_Silent_p.H207H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCATACCAGTATGAATTATCT	0.388000													24	48					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12544934	12544934	+	Missense_Mutation	SNP	T	T	C	rs36084365		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12544934T>C	ENST00000444864.1	+	5	869	c.482T>C	c.(481-483)aTg>aCg	p.M161T	TSEN2_ENST00000454502.2_Missense_Mutation_p.M161T|TSEN2_ENST00000415684.1_Missense_Mutation_p.M161T|TSEN2_ENST00000402228.3_Missense_Mutation_p.M161T|TSEN2_ENST00000383797.5_Missense_Mutation_p.M161T|TSEN2_ENST00000314571.7_Missense_Mutation_p.M161T|TSEN2_ENST00000284995.6_Missense_Mutation_p.M161T	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	161					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTTTCCAACATGGAAGGCACA	0.522000													12	44					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20872882	20872882	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20872882T>G	ENST00000262715.5	-	5	960	c.920A>C	c.(919-921)aAc>aCc	p.N307T	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	307	TROVE.		N -> K (in dbSNP:rs1760898).		telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCAAGATGTTATTGGCCAC	0.552000													19	64					0	0	1	0	0
CLCN4	0	broad.mit.edu	37	X	10174814	10174814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10174814G>T	ENST00000380833.4	+	8	1232	c.841G>T	c.(841-843)Gag>Tag	p.E281*	CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E281*|CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E187*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	281		Mediates proton transfer from the protein to the inner aqueous phase.				early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGTCTAGAAGAGGTGAGAAT	0.468000													45	84					3.4345e-17	4.60033e-17	1	1	0
NGB	58157	broad.mit.edu	37	14	77737225	77737225	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77737225C>T	ENST00000298352.4	-	1	430	c.56G>A	c.(55-57)aGc>aAc	p.S19N		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	19	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CTCCAGCGGGCTGCGGCTCAC	0.746000													5	9					0	0	1	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19646484	19646484	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19646484C>A	ENST00000555938.1	+	7	699	c.687C>A	c.(685-687)ccC>ccA	p.P229P	YJEFN3_ENST00000514277.3_Silent_p.P230P|YJEFN3_ENST00000436027.4_Silent_p.P180P																							TGGACATCCCCTCAGGCATGC	0.731000													7	7					0.00198382	0.00207034	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37198935	37198935	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:37198935T>G	ENST00000274258.7	-	20	3771	c.184A>C	c.(184-186)Aaa>Caa	p.K62Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.K1181Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.K1181Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1181										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTATTTTTTTCAGCTTTT	0.368000													4	38					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67270154	67270154	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67270154G>T	ENST00000392676.3	-	20	2774	c.2710C>A	c.(2710-2712)Cct>Act	p.P904T	ABCA5_ENST00000392677.2_Missense_Mutation_p.P904T|ABCA5_ENST00000588877.1_Missense_Mutation_p.P904T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	904					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTGTCTCCAGGTTTTAGAAAA	0.363000													17	43					5.01169e-05	5.45927e-05	1	1	0
DOCK1	1793	broad.mit.edu	37	10	128795081	128795081	+	Silent	SNP	G	G	A	rs79043452	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128795081G>A	ENST00000280333.6	+	7	652	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	181					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TAACTAGCACGATTAGTCTCT	0.368000													13	115					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452066	45452066	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45452066T>G	ENST00000331493.2	+	12	1517	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		ATAAGAAAATTTCTGGGTGGG	0.318000													20	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594290	179594290	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179594290G>A	ENST00000589042.1	-	64	18817	c.18593C>T	c.(18592-18594)cCc>cTc	p.P6198L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4954L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5881L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5881	Ig-like 43.						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)			AAAGGTGGGGGGTTCTAAAGA	0.458000													22	50					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197617	39197617	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39197617A>C	ENST00000306271.4	-	1	96	c.33T>G	c.(31-33)ttT>ttG	p.F11L		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	11						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGCTGGGAAATCCACAGA	0.582000													24	61					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903438	112903438	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112903438A>C	ENST00000161863.4	+	23	3349	c.3136A>C	c.(3136-3138)Ata>Cta	p.I1046L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1046							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGCCCATAGAATAGCTAATAT	0.418000													13	31					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140433447	140433447	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140433447A>G	ENST00000306549.3	+	1	2469	c.2392A>G	c.(2392-2394)Aat>Gat	p.N798D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCCCAAATTCTGATAG	0.448000													29	57					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018861	5018861	+	Splice_Site	SNP	C	C	T	rs144723757		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5018861C>T	ENST00000307746.4	-	2	225		c.e2+1			NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1						signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AACCCTCTTACGTGTATGTCC	0.572000													15	30					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84245767	84245767	+	Missense_Mutation	SNP	C	C	T	rs150043290	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:84245767C>T	ENST00000398309.2	-	2	520	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	DLG2_ENST00000543673.1_Missense_Mutation_p.R122Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R122Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R17Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R17Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	17						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATCTTGATATCGATACTTCTA	0.388000													38	71					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360080	71360080	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360080G>T	ENST00000244230.2	+	2	494	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D48Y|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	48					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGTGCTTTATGACTTTAATAA	0.338000													15	27					6.31663e-08	7.35827e-08	1	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557600	170557600	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170557600G>A	ENST00000359744.3	+	4	507	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	40							metal ion binding|pyridoxal phosphatase activity	p.R40Q(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GATTCTTATCGAAAAGGATTT	0.363000													24	36					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706285	41706285	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706285G>T	ENST00000379485.1	-	1	597	c.363C>A	c.(361-363)tcC>tcA	p.S121S	KBTBD6_ENST00000499385.2_Silent_p.S55S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	121	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACACCTCGAAGGACTCGGCGT	0.602000													23	42					1.75199e-13	2.24662e-13	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51517794	51517794	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51517794C>T	ENST00000335891.5	-	1	60	c.51G>A	c.(49-51)ctG>ctA	p.L17L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	17					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACTGCTCCAGCAGGGTAGTGA	0.393000													34	59					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843010	57843010	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57843010T>G	ENST00000264230.4	-	1	1979	c.742A>C	c.(742-744)Aac>Cac	p.N248H		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	248							GTP binding										TCCACTTTGTTTCCCAGCACG	0.697000													32	78					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471145	31471145	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31471145T>G	ENST00000457010.2	+	1	1001	c.300T>G	c.(298-300)gcT>gcG	p.A100A	ARMC5_ENST00000408912.3_Silent_p.A195A|ARMC5_ENST00000268314.4_Silent_p.A100A|ARMC5_ENST00000538189.1_Silent_p.A132A|ARMC5_ENST00000563544.1_Silent_p.A100A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	100							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTCGGGAGCTTCTAgccccg	0.761000													4	6					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100257772	100257772	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100257772C>A	ENST00000515683.1	-	0	1616					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATTTCCATTTCTTTGGAAAGC	0.348000													3	5					6.4e-05	6.95424e-05	1	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113627897	113627897	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113627897G>T	ENST00000358160.4	+	9	1374	c.882G>T	c.(880-882)aaG>aaT	p.K294N	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K127N|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K89N	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	294						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGCCATCAAAGTCACTGGACT	0.333000													20	37					1.55795e-14	2.03067e-14	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458370	248458370	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248458370C>T	ENST00000317996.1	-	1	510	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E171K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGATCGATCTCGTGTGCACCG	0.562000													33	80					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71802319	71802319	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71802319G>T	ENST00000373545.3	-	31	3739	c.3301C>A	c.(3301-3303)Cat>Aat	p.H1101N	PHKA1_ENST00000541944.1_Missense_Mutation_p.H1071N|PHKA1_ENST00000373542.4_Missense_Mutation_p.H1143N|PHKA1_ENST00000373539.3_Missense_Mutation_p.H1160N|PHKA1_ENST00000339490.3_Missense_Mutation_p.H1130N			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1143					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			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)					CCGATGCTATGAATTTCAATA	0.448000													18	37					1.02788e-11	1.28326e-11	1	1	0
RNF32	140545	broad.mit.edu	37	7	156450909	156450909	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156450909G>A	ENST00000392741.2	+	5	626	c.538G>A	c.(538-540)Gat>Aat	p.D180N	RNF32_ENST00000405335.1_Missense_Mutation_p.D180N|RNF32_ENST00000343665.4_Missense_Mutation_p.D156N|RNF32_ENST00000392743.2_Missense_Mutation_p.D180N|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.D180N|RNF32_ENST00000311822.8_Missense_Mutation_p.D180N|RNF32_ENST00000432459.2_Missense_Mutation_p.D180N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	180						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGTGATACACGATGGGGCCCG	0.473000													17	33					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171248036	171248036	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171248036G>T	ENST00000334231.6	+	15	1611	c.1611G>T	c.(1609-1611)gaG>gaT	p.E537D	MYO3B_ENST00000408978.4_Missense_Mutation_p.E528D|MYO3B_ENST00000409044.3_Missense_Mutation_p.E528D|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	528	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCAGGAGAGAGAAAAATTTTC	0.323000													8	9					0.0381472	0.0387537	1	1	0
GLI2	2736	broad.mit.edu	37	2	121736119	121736119	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121736119A>G	ENST00000452319.1	+	10	1538	c.1478A>G	c.(1477-1479)cAc>cGc	p.H493R	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.H493R|GLI2_ENST00000314490.11_Missense_Mutation_p.H165R			P10070	GLI2_HUMAN	GLI family zinc finger 2	493					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGGTGGTGCACATGCGGCGA	0.652000													17	125					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502546	91502546	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91502546G>T	ENST00000266718.4	-	2	665	c.211C>A	c.(211-213)Ctt>Att	p.L71I	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	71					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTAAGGTAAAGATACTTGATT	0.413000													4	38					1	1	1	1	0
KIF20B	9585	broad.mit.edu	37	10	91528529	91528529	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91528529C>A	ENST00000416354.1	+	31	5288	c.5216C>A	c.(5215-5217)tCt>tAt	p.S1739Y	KIF20B_ENST00000371728.3_Missense_Mutation_p.S1709Y|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1669Y			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1709	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAACATATTCTTTACGGAGT	0.358000													22	30					6.33239e-15	8.29613e-15	1	1	0
ZNF197	10168	broad.mit.edu	37	3	44684747	44684747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44684747C>T	ENST00000396058.1	+	5	2292	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R709*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	709					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATATGAATGTCGAGAGTGTGG	0.413000													41	54					0	0	1	0	0
RTP4	64108	broad.mit.edu	37	3	187089081	187089081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187089081C>T	ENST00000259030.2	+	2	771	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	221					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGGCCCAGTCGAGACCCAGA	0.448000													10	44					0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36038136	36038136	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36038136T>C	ENST00000392204.2	+	5	726	c.398T>C	c.(397-399)gTt>gCt	p.V133A	TMEM147_ENST00000222284.5_Missense_Mutation_p.V182A|TMEM147_ENST00000392205.1_Missense_Mutation_p.V182A	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	182						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGCCTTTGTTATGGAGTGA	0.527000													4	79					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117230480	117230480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117230480G>T	ENST00000003084.6	+	13	1885	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E524*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	585	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACAGAAAAAGAAATATTTGA	0.289000									Cystic Fibrosis				16	24					0.000422831	0.000449533	1	1	0
FAM57B	83723	broad.mit.edu	37	16	30037010	30037010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30037010C>T	ENST00000564806.1	-	3	472	c.427G>A	c.(427-429)Gag>Aag	p.E143K	FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGTGACCTCCCCATTGGGC	0.607000													43	125					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578538	58578538	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58578538T>G	ENST00000506786.1	+	5	1114	c.560T>G	c.(559-561)cTt>cGt	p.L187R	ZNF135_ENST00000313434.5_Missense_Mutation_p.L229R|ZNF135_ENST00000359978.6_Missense_Mutation_p.L241R|ZNF135_ENST00000401053.4_Missense_Mutation_p.L253R|ZNF135_ENST00000511556.1_Missense_Mutation_p.L241R|ZNF135_ENST00000439855.2_Missense_Mutation_p.L229R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	241					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)		AGCTCAGCACTTATCGAACAC	0.473000													69	130					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44943956	44943956	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44943956T>G	ENST00000261866.7	-	6	1205	c.1189A>C	c.(1189-1191)Aat>Cat	p.N397H	SPG11_ENST00000427534.2_Missense_Mutation_p.N397H|SPG11_ENST00000535302.2_Missense_Mutation_p.N397H|SPG11_ENST00000559193.1_Missense_Mutation_p.N397H|SPG11_ENST00000558319.1_Missense_Mutation_p.N397H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	397					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTAGAACATTATATTGCCCA	0.428000													34	54					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129784708	129784708	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129784708C>T	ENST00000358825.5	-	18	2975	c.2744G>A	c.(2743-2745)cGa>cAa	p.R915Q	PRDM10_ENST00000304538.6_Missense_Mutation_p.R825Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R911Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R885Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R829Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R829Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTGTGGCGTTCGGTAGTCTGT	0.547000													96	168					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391106	391106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:391106G>T	ENST00000256509.2	+	10	1555	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E289*	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	289	Ig-like C2-type 3.				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)		AGAAACAAAAGAAAATTATGG	0.383000													18	35					1.99824e-07	2.29918e-07	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433247	55433247	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55433247G>A	ENST00000314259.3	+	1	634	c.605G>A	c.(604-606)gGg>gAg	p.G202E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAACAGTGGGATGATGTGT	0.468000													37	64					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATGCTGCAAGATTTGGGGAA	0.363000													26	48					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49412424	49412424	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:49412424G>T	ENST00000299191.3	+	3	431	c.314G>T	c.(313-315)aGc>aTc	p.S105I		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	105										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCTACCGAAGCCTCTATGGA	0.567000													3	12					1	1	1	1	0
TRO	7216	broad.mit.edu	37	X	54953058	54953058	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54953058G>T	ENST00000173898.7	+	9	1812	c.1700_splice	c.e9+1	p.G567_splice	TRO_ENST00000319167.8_Splice_Site_p.G567_splice|TRO_ENST00000420798.2_Splice_Site_p.G98_splice|TRO_ENST00000375022.4_Splice_Site_p.G567_splice|TRO_ENST00000399736.1_Splice_Site_p.G170_splice|TRO_ENST00000375041.2_Splice_Site_p.G170_splice	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	567	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGCGCCCTGGGTATGACTGG	0.577000													46	104					1.15181e-12	1.45902e-12	1	1	0
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393000													23	37					3.28513e-13	4.19729e-13	1	1	0
APOOL	139322	broad.mit.edu	37	X	84301495	84301495	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84301495C>A	ENST00000373173.2	+	2	146	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	20						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATATATGCATCTGTAAGTGTA	0.358000													10	25					5.50884e-06	6.10489e-06	1	1	0
TMTC4	84899	broad.mit.edu	37	13	101258625	101258625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:101258625G>T	ENST00000342624.5	-	18	2379	c.2121C>A	c.(2119-2121)taC>taA	p.Y707*	TMTC4_ENST00000328767.5_Nonsense_Mutation_p.Y577*|TMTC4_ENST00000376234.3_Nonsense_Mutation_p.Y688*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	688						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATTACCATGGTAACTTGCAG	0.313000													12	17					0.00010058	0.000108553	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12739611	12739611	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12739611C>A	ENST00000343325.4	+	4	1430	c.1268C>A	c.(1267-1269)tCt>tAt	p.S423Y	ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.S314Y|ZNF791_ENST00000458122.3_Missense_Mutation_p.S391Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACCTTCATTTCTCTTGAGAAC	0.403000													43	76					7.05121e-23	9.83114e-23	1	1	0
BCL11B	64919	broad.mit.edu	37	14	99697799	99697799	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:99697799C>T	ENST00000357195.3	-	3	532	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	175						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)		GGGAGAGCGCCCAGGGCACGC	0.706000			T	TLX3	T-ALL								5	20					0	0	1	0	0
INSIG2	51141	broad.mit.edu	37	2	118864481	118864481	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118864481T>C	ENST00000245787.4	+	4	742		c.e4+2		INSIG2_ENST00000485520.1_Splice_Site	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TGTTTACCAGTAAGTATTAAT	0.358000													9	88					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20124900	20124900	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20124900G>T	ENST00000396085.1	+	34	6887	c.6526G>T	c.(6526-6528)Gtg>Ttg	p.V2176L	NAV2_ENST00000533917.1_Missense_Mutation_p.V1237L|NAV2_ENST00000360655.4_Missense_Mutation_p.V2109L|NAV2_ENST00000527559.2_Missense_Mutation_p.V2161L|NAV2_ENST00000396087.3_Missense_Mutation_p.V2232L|NAV2_ENST00000349880.4_Missense_Mutation_p.V2173L|NAV2_ENST00000311043.8_Missense_Mutation_p.V1237L|NAV2_ENST00000540292.1_Missense_Mutation_p.V2163L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2232						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTACACCACGTGAGCTCTCT	0.542000													31	62					2.20474e-14	2.87106e-14	1	1	0
IFNA7	3444	broad.mit.edu	37	9	21201822	21201822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21201822G>A	ENST00000239347.3	-	1	382	c.343C>T	c.(343-345)Caa>Taa	p.Q115*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	115					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATTCAGTTGCTGGTAAAGT	0.478000													59	100					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151463410	151463410	+	Missense_Mutation	SNP	G	G	A	rs35364301		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151463410G>A	ENST00000356517.3	+	4	654	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	182						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GATCCCACCCGAATCTGCATT	0.423000													19	81					0	0	1	0	0
IGHV3-15	0	broad.mit.edu	37	14	106610781	106610781	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106610781C>T	ENST00000390603.2	-	0	71																											ATGGTGAGTCCTCTGTGTTCA	0.488000													51	81					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95164299	95164299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95164299G>T	ENST00000027335.3	-	13	1717	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	531	Cadherin 5.					integral to membrane	calcium ion binding	p.F531F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTCTGCTTTGAACACAATGT	0.398000													18	31					1.56452e-12	1.97515e-12	1	1	0
F2RL1	2150	broad.mit.edu	37	5	76115015	76115015	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76115015G>A	ENST00000296677.4	+	1	214	c.8G>A	c.(7-9)aGc>aAc	p.S3N		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	3					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AGGATGCGGAGCCCCAGCGCG	0.682000													3	13					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201185815	201185815	+	Missense_Mutation	SNP	C	C	T	rs35669472		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201185815C>T	ENST00000335211.4	+	16	9659	c.9529C>T	c.(9529-9531)Cgg>Tgg	p.R3177W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.R3177W(2)|p.R337W(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCGAGTGCGGGCTGTGAC	0.647000													26	59					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45425210	45425210	+	Missense_Mutation	SNP	G	G	A	rs149684195	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45425210G>A	ENST00000331493.2	+	9	965	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		AGTAAAATTCGAAGTGGTAAG	0.323000													15	16					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059163	13059163	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:13059163T>C	ENST00000506447.1	+	21	4420	c.4340T>C	c.(4339-4341)cTt>cCt	p.L1447P	CEP192_ENST00000430049.2_Missense_Mutation_p.L972P|CEP192_ENST00000325971.8_Missense_Mutation_p.L851P	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1042										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAAAAGTGCTTTTTATACCA	0.413000													41	81					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279214	51279214	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51279214G>A	ENST00000551456.1	+	4	883	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	201	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TCTGAAGCCAGAAGGGAACTT	0.328000													31	61					0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48624299	48624299	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48624299C>T	ENST00000303227.6	+	2	164	c.123C>T	c.(121-123)atC>atT	p.I41I	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TTGACCACATCGTGATGACGG	0.463000													11	9					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76344055	76344055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76344055C>A	ENST00000312916.7	+	7	1653	c.1271C>A	c.(1270-1272)tCa>tAa	p.S424*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	424					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CAGATAGGATCACTCTTTATC	0.323000													7	84					8.12818e-05	8.79784e-05	1	1	0
PIK3C3	5289	broad.mit.edu	37	18	39617746	39617746	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39617746G>T	ENST00000262039.4	+	17	2016	c.1930G>T	c.(1930-1932)Gat>Tat	p.D644Y	PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D581Y|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D129Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	644	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTACGTCAAGATCAACTTAT	0.373000										TSP Lung(28;0.18)			34	89					1.61788e-16	2.15322e-16	1	1	0
LTF	4057	broad.mit.edu	37	3	46497452	46497452	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46497452A>C	ENST00000231751.4	-	4	628	c.333T>G	c.(331-333)taT>taG	p.Y111*	LTF_ENST00000426532.2_Nonsense_Mutation_p.Y67*|LTF_ENST00000417439.1_Nonsense_Mutation_p.Y111*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	111	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CCACGGCATAATAGTGAGTTC	0.537000													9	25					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140951545	140951545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140951545C>T	ENST00000253811.6	-	17	2561	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	DIAPH1_ENST00000520569.1_Silent_p.E753E|DIAPH1_ENST00000398557.4_Silent_p.E807E|DIAPH1_ENST00000398566.3_Silent_p.E798E|DIAPH1_ENST00000389057.5_Silent_p.E798E|DIAPH1_ENST00000398562.2_Silent_p.E786E|DIAPH1_ENST00000389054.3_Silent_p.E807E|DIAPH1_ENST00000518047.1_Silent_p.E798E			O60610	DIAP1_HUMAN	diaphanous-related formin 1	807	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCATTGTTCTCAAAGCGGT	0.478000													32	58					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129102809	129102809	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129102809T>G	ENST00000361171.3	+	2	185	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MVB12B_ENST00000436593.3_Missense_Mutation_p.V20G|MVB12B_ENST00000545391.1_Missense_Mutation_p.V35G	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		ATGCCTGAAGTCAAAGACCTC	0.468000													5	75					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695032	30695032	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30695032A>G	ENST00000256246.2	-	3	7693	c.7619T>C	c.(7618-7620)aTa>aCa	p.I2540T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2540										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATTTACTATATCATTATC	0.368000													10	29					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907353	23907353	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23907353T>A	ENST00000382298.3	-	10	11250	c.10662A>T	c.(10660-10662)gaA>gaT	p.E3554D	SACS_ENST00000402364.1_Missense_Mutation_p.E2804D|SACS_ENST00000382292.3_Missense_Mutation_p.E3554D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3554					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAACAATTTTTCAGGAAGCA	0.303000													8	7					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085936	92085936	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92085936A>C	ENST00000298047.6	+	1	675	c.658A>C	c.(658-660)Aat>Cat	p.N220H	FAT3_ENST00000525166.1_Missense_Mutation_p.N70H|FAT3_ENST00000541502.1_Missense_Mutation_p.N220H|FAT3_ENST00000409404.2_Missense_Mutation_p.N220H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	220	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTCGATTAAATTATGATGA	0.383000										TCGA Ovarian(4;0.039)			32	59					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98236676	98236676	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:98236676C>T	ENST00000284049.3	-	6	847	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	233					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGCTTGGCGACGAGAACTTCT	0.368000													21	42					0	0	1	0	0
UCHL5	51377	broad.mit.edu	37	1	192993056	192993056	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:192993056C>T	ENST00000367452.4	-	8	1048	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	UCHL5_ENST00000367455.3_Missense_Mutation_p.R217Q|UCHL5_ENST00000367451.4_Missense_Mutation_p.R244Q|UCHL5_ENST00000367448.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367454.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000530098.2_Missense_Mutation_p.R93Q|UCHL5_ENST00000367449.1_Missense_Mutation_p.R217Q			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	217					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TAAATTAAATCGAATTTCACC	0.333000													8	18					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863898	55863898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55863898C>A	ENST00000327335.4	-	1	24	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGAATAAATTCTATCTGCCTT	0.353000													15	27					1.99824e-07	2.29918e-07	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169317216	169317216	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169317216T>G	ENST00000511577.1	-	27	3798	c.3551A>C	c.(3550-3552)gAa>gCa	p.E1184A	DDX60L_ENST00000505890.1_Missense_Mutation_p.E1185A|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1184A			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1184							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTAATATATTCAGCTCTATA	0.308000													10	19					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13015378	13015378	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13015378G>A	ENST00000293695.7	-	3	252	c.234C>T	c.(232-234)atC>atT	p.I78I	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	78					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGATGTTTTCGATCAGCTCCT	0.552000													54	98					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4398043	4398043	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4398043G>A	ENST00000261254.3	+	4	876	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	203					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTCGATGATCGCAACTGGAAG	0.547000			T	IGL@	"""NHL,CLL"""								28	134					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747230	158747230	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158747230G>T	ENST00000339258.1	-	1	195	c.196C>A	c.(196-198)Ctt>Att	p.L66I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGAAGGAAAGAACACTGACA	0.438000													9	195					0.00621372	0.0064192	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118969875	118969875	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:118969875A>G	ENST00000328252.3	+	3	1988	c.1619A>G	c.(1618-1620)cAc>cGc	p.H540R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	540	Metalloprotease.				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						GCCCTGATGCACTTAGGTGAG	0.453000													10	29					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140249078	140249078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140249078G>A	ENST00000398640.2	+	1	390	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCGGTGTTCT	0.547000													83	129					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18524068	18524068	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18524068G>T	ENST00000536719.1	-	7	739	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TSG101_ENST00000251968.3_Missense_Mutation_p.S202Y|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Missense_Mutation_p.S97Y			Q99816	TS101_HUMAN	tumor susceptibility 101	202					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGGTACTGAGAACTTGTTGT	0.433000													10	18					1.49906e-05	1.64923e-05	1	1	0
ACRC	93953	broad.mit.edu	37	X	70823530	70823530	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70823530G>T	ENST00000373695.1	+	7	940	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D135Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	135	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAACGGTAATGATTTGGAAGT	0.463000													86	161					6.71967e-41	9.7083e-41	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38211329	38211329	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38211329C>A	ENST00000379705.3	-	11	3502	c.2645G>T	c.(2644-2646)aGa>aTa	p.R882I	TRPC4_ENST00000338947.5_Missense_Mutation_p.R709I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R887I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R709I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R798I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R741I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R741I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.R733I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	882	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGAATATTTCTCTCAAGTGG	0.438000													13	41					2.27111e-07	2.60515e-07	1	1	0
ABCB7	22	broad.mit.edu	37	X	74318853	74318853	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74318853G>T	ENST00000253577.3	-	4	404	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	ABCB7_ENST00000373394.3_Missense_Mutation_p.S126Y|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	126					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CCACACATAAGAAAGCATTGC	0.373000													18	36					3.52763e-06	3.92945e-06	1	1	0
MNAT1	4331	broad.mit.edu	37	14	61275130	61275130	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61275130A>G	ENST00000261245.4	+	4	505	c.404A>G	c.(403-405)aAa>aGa	p.K135R	MNAT1_ENST00000539616.2_Missense_Mutation_p.K135R	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	135					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GTTATTCAGAAAAATAAATTA	0.303000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					7	8					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454597	3454597	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3454597T>C	ENST00000268655.4	+	2	1159	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.W192R|ZNF174_ENST00000572544.1_Missense_Mutation_p.W192R|ZNF174_ENST00000571936.1_Missense_Mutation_p.W192R|ZNF174_ENST00000575752.1_Missense_Mutation_p.W192R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	192					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCCCATCATTGGGAGAAATC	0.552000													39	82					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631561	141631561	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141631561C>A	ENST00000546910.1	-	6	607	c.411G>T	c.(409-411)gaG>gaT	p.E137D	CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E114D|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E114D|CLEC5A_ENST00000439991.1_Missense_Mutation_p.E33D	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	137	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GCCACCTTTTCTCTTCACGAT	0.388000													35	66					7.61001e-30	1.08524e-29	1	1	0
GTF3C3	9330	broad.mit.edu	37	2	197639893	197639893	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197639893C>T	ENST00000263956.3	-	13	1867	c.1778G>A	c.(1777-1779)aGa>aAa	p.R593K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	593						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATTTTGTCTCTCGATACTTT	0.343000													10	19					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17909551	17909551	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17909551G>A	ENST00000313838.8	+	12	1565	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	LRRC48_ENST00000584166.1_Missense_Mutation_p.E396K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E396K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E396K|LRRC48_ENST00000399187.1_Missense_Mutation_p.E396K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	396						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACTGTTTATCGAAAATGTCCA	0.433000													4	12					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100779084	100779084	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100779084T>G	ENST00000358544.2	+	40	7319	c.7208T>G	c.(7207-7209)gTt>gGt	p.V2403G	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2378G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2403					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)			GAAAGCAAAGTTTGTGAACTG	0.358000													16	29					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679637	79679637	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:79679637C>A	ENST00000261205.4	+	5	894	c.237C>A	c.(235-237)atC>atA	p.I79I	SYT1_ENST00000393240.3_Silent_p.I79I|SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000552744.1_Silent_p.I79I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	79					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTTGTATCTGTAAGAAAT	0.403000													15	42					1.49906e-05	1.64923e-05	1	1	0
ZFYVE27	118813	broad.mit.edu	37	10	99498292	99498292	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99498292G>A	ENST00000393677.4	+	2	262	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E20K	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	20					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CGTGATGCCCGAGGCTCCCCT	0.537000													53	65					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132424107	132424107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132424107G>T	ENST00000304858.2	+	9	1286	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	333					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTAAAGAAAGAAGATATTTA	0.308000													11	15					3.07112e-06	3.42433e-06	1	1	0
GSDMC	56169	broad.mit.edu	37	8	130772804	130772804	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:130772804T>G	ENST00000276708.4	-	6	1589	c.708A>C	c.(706-708)agA>agC	p.R236S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	236						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTGAAAGGTTCTCTGTTCAT	0.373000													8	62					0	0	1	0	0
TVP23B	51030	broad.mit.edu	37	17	18694243	18694243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18694243C>T	ENST00000307767.8	+	3	429	c.130C>T	c.(130-132)Cga>Tga	p.R44*	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Nonsense_Mutation_p.R44*	NM_016078.4	NP_057162.4			trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		CTTATTCTTTCGAGTCAGTGC	0.383000													36	83					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1909191	1909191	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1909191G>A	ENST00000382722.5	-	33	3311	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G	CACNA2D4_ENST00000585708.1_Silent_p.G919G|CACNA2D4_ENST00000538450.1_Silent_p.G113G|CACNA2D4_ENST00000538027.2_Silent_p.G128G|CACNA2D4_ENST00000588077.1_Silent_p.G919G|CACNA2D4_ENST00000587995.1_Silent_p.G958G|CACNA2D4_ENST00000586184.1_Silent_p.G983G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	983						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)		CGTACCAGGAGCCCCAGACAC	0.592000													7	16					0	0	1	0	0
USP16	0	broad.mit.edu	37	21	30403021	30403021	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30403021A>C	ENST00000334352.4	+	4	398	c.167A>C	c.(166-168)aAa>aCa	p.K56T	USP16_ENST00000399975.3_Missense_Mutation_p.K56T|USP16_ENST00000399976.2_Missense_Mutation_p.K56T|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	56					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACTGACAATAAAGTGAAAGAT	0.368000													10	38					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81978960	81978960	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81978960T>G	ENST00000356860.3	-	2	439	c.101A>C	c.(100-102)aAa>aCa	p.K34T	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K34T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	34						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACCCATGATTTGATACTGCA	0.363000													8	47					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95608521	95608521	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95608521A>G	ENST00000395505.2	-	3	2532	c.2440T>C	c.(2440-2442)Tct>Cct	p.S814P	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.S814P|ZNF484_ENST00000375495.3_Missense_Mutation_p.S850P|ZNF484_ENST00000395506.3_Missense_Mutation_p.S852P	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAGATAGAAGAAAGTTGGCCT	0.423000													33	62					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835565	180835565	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180835565C>T	ENST00000410053.3	-	10	1258	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R320Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	320	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CAGAATGTTTCGAAGGCGTTC	0.308000													24	41					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967832	54967832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:54967832G>T	ENST00000326902.2	+	2	972	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	220						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCTGGAGAGAGAATTCTCTTC	0.552000													26	116					8.24728e-16	1.09065e-15	1	1	0
OLFML1	283298	broad.mit.edu	37	11	7531307	7531307	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7531307G>T	ENST00000329293.3	+	3	1491	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R366I|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	366	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGAGACCAAGAAGTCACTCC	0.498000													24	43					5.35356e-11	6.62625e-11	1	1	0
ZNF212	7988	broad.mit.edu	37	7	148947339	148947339	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148947339G>A	ENST00000335870.2	+	2	242	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGACCACCGAGATTTCACTCT	0.542000													24	30					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45169892	45169892	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45169892G>A	ENST00000429094.2	-	8	1308	c.804C>T	c.(802-804)tgC>tgT	p.C268C	NELL2_ENST00000549027.1_Silent_p.C267C|NELL2_ENST00000395487.2_Silent_p.C267C|NELL2_ENST00000452445.2_Silent_p.C268C|NELL2_ENST00000333837.4_Silent_p.C291C|NELL2_ENST00000437801.2_Silent_p.C318C|NELL2_ENST00000551601.1_Silent_p.C267C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	268					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTCACAATAGCACTGATCCA	0.458000													19	49					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77053689	77053689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77053689C>T	ENST00000264883.3	-	6	1034	c.894G>A	c.(892-894)caG>caA	p.Q298Q	NUP54_ENST00000514987.1_Silent_p.Q250Q|NUP54_ENST00000458189.2_Silent_p.Q118Q|NUP54_ENST00000342467.6_Silent_p.Q118Q	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	298	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CAGGAGGATTCTGTAAAAGCT	0.368000													49	70					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654306	654306	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:654306C>A	ENST00000255622.6	+	12	1561	c.1518C>A	c.(1516-1518)ttC>ttA	p.F506L	PDE6B_ENST00000496514.1_Missense_Mutation_p.F506L|PDE6B_ENST00000429163.2_Missense_Mutation_p.F227L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	506					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AATTCCACTTCTCTGACCTGG	0.592000													15	23					1.05317e-09	1.27574e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179645959	179645959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179645959C>A	ENST00000589042.1	-	21	3636	c.3412G>T	c.(3412-3414)Gaa>Taa	p.E1138*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E1092*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1092*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E1138*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1092*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E1138*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1138	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTGCATTCACCGGTTTGT	0.348000													7	28					1.26484e-09	1.52852e-09	1	1	0
EML5	161436	broad.mit.edu	37	14	89131693	89131693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89131693G>A	ENST00000554922.1	-	22	3513	c.3265C>T	c.(3265-3267)Cga>Tga	p.R1089*	EML5_ENST00000380664.5_Nonsense_Mutation_p.R1089*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R1051*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1089						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTGAAAATCGAATATCTGAA	0.343000													8	8					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54418757	54418757	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54418757C>T	ENST00000391767.1	+	4	634	c.422C>T	c.(421-423)tCg>tTg	p.S141L	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	141					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTCATACTATCGGGTGAGCCT	0.562000													16	25					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98336396	98336396	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98336396A>C	ENST00000371142.4	-	2	509	c.293T>G	c.(292-294)tTt>tGt	p.F98C		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	98						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTTACCTTTAAATTTAATATC	0.353000													6	49					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5811254	5811254	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5811254C>T	ENST00000339450.5	-	7	1273	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R171Q	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	395					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTCCATGTCGATACTTAGA	0.393000													22	74					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55356262G>A	ENST00000524622.1	-	7	1667	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C|TESPA1_ENST00000449076.1_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	474																	AAAGACCGACGCAGTTCTGGT	0.517000													55	119					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94052341	94052341	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94052341G>T	ENST00000297268.6	+	40	2947	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	826			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGACCAAGGTCCAGTTGG	0.562000										HNSCC(75;0.22)			44	71					1.15505e-17	1.55342e-17	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2796122	2796122	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:2796122G>T	ENST00000520002.1	-	71	11238	c.10683C>A	c.(10681-10683)gtC>gtA	p.V3561V	CSMD1_ENST00000602723.1_Silent_p.V3384V|CSMD1_ENST00000400186.3_Silent_p.V3384V|CSMD1_ENST00000602557.1_Silent_p.V3561V|CSMD1_ENST00000537824.1_Silent_p.V3560V|CSMD1_ENST00000542608.1_Silent_p.V3383V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3561						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)		CCACTGTACAGACTGTGTTCA	0.468000													3	14					1	1	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86844806	86844806	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86844806G>A	ENST00000395184.1	+	4	740	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ARHGAP24_ENST00000395183.2_5'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D92N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	92	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAGGAGGCGATCGAGATCG	0.483000													9	23					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402693	223402693	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223402693G>T	ENST00000343846.3	-	5	1395	c.762C>A	c.(760-762)ttC>ttA	p.F254L	SUSD4_ENST00000366878.4_Missense_Mutation_p.F254L|SUSD4_ENST00000454695.2_Missense_Mutation_p.F94L|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	254	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)		GGTGGCAGACGAAATCTCCGT	0.527000													20	24					2.94398e-08	3.45884e-08	1	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713945	142713945	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:142713945G>A	ENST00000369381.2	-	0	660																											GATTACCTCCGAAGTTAAAGA	0.313000													11	15					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183699	197183699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197183699C>T	ENST00000260983.2	-	9	2097	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	HECW2_ENST00000409111.1_Missense_Mutation_p.E283K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	639					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGCGCATTCCAGGTCACTC	0.587000													12	31					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115487508	115487508	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115487508G>T	ENST00000369522.3	+	25	2299	c.2059G>T	c.(2059-2061)Gta>Tta	p.V687L	SYCP1_ENST00000369518.1_Missense_Mutation_p.V687L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	687					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAAAGCAAAAGTAATAGCTGA	0.264000													6	18					3.59834e-05	3.93264e-05	1	1	0
RNF219	79596	broad.mit.edu	37	13	79213182	79213182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:79213182C>A	ENST00000282003.6	-	4	383	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	109							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)		TCTTCTACTTCTTTCTGTAAA	0.383000													11	38					3.86212e-05	4.21111e-05	1	1	0
GJA3	2700	broad.mit.edu	37	13	20717426	20717426	+	Translation_Start_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:20717426A>G	ENST00000241125.3	-	2	178	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	1					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCAGTCGCCCATTGCTTCAGA	0.577000													3	21					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3449289	3449289	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3449289A>C	ENST00000382774.3	+	11	1541	c.1426A>C	c.(1426-1428)Acc>Ccc	p.T476P	HGFAC_ENST00000511533.1_Missense_Mutation_p.T483P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	476	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGTGACGCAGACCTTCGGCAT	0.647000													123	256					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													5	35					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57883789	57883789	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57883789T>G	ENST00000381227.1	+	17	2631	c.2218T>G	c.(2218-2220)Ttc>Gtc	p.F740V	POLR2B_ENST00000314595.5_Missense_Mutation_p.F740V|POLR2B_ENST00000431623.2_Missense_Mutation_p.F665V|POLR2B_ENST00000441246.2_Missense_Mutation_p.F733V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	740					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATCACCAACTTCCATGTTCG	0.423000													5	15					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870219	21870219	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870219T>C	ENST00000399982.2	-	19	4023	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.D1320G|CHD8_ENST00000430710.3_Missense_Mutation_p.D1041G	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1320					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGAGCCTTCATCATCTTCCTC	0.393000													33	43					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541339	55541339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541339G>T	ENST00000220676.1	+	4	5045	c.4897G>T	c.(4897-4899)Gaa>Taa	p.E1633*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1633					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGGCAATAGAAAAACTGTA	0.383000													29	62					1.68575e-08	1.99097e-08	1	1	0
ANO6	196527	broad.mit.edu	37	12	45740823	45740823	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45740823G>A	ENST00000320560.8	+	4	500	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.E100K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	100					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAAGCATACGAATCTAACCT	0.393000													4	51					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887693	25887693	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887693G>T	ENST00000376351.3	+	11	3497	c.3138G>T	c.(3136-3138)gaG>gaT	p.E1046D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1046						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						CCTTAAAGGAGAAATCTCACC	0.463000													23	59					1.85244e-09	2.22951e-09	1	1	0
NAA16	79612	broad.mit.edu	37	13	41933048	41933048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41933048C>T	ENST00000379406.3	+	12	1684	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.R454*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	454					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.R454*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATACATGCTTCGAGCAAATAT	0.378000													25	48					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647912	122647912	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:122647912C>A	ENST00000284273.5	+	3	771	c.396C>A	c.(394-396)ttC>ttA	p.F132L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	132						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCTGCCAGTTCTTTATGGTGA	0.592000													12	25					4.3838e-07	4.998e-07	1	1	0
SH3YL1	26751	broad.mit.edu	37	2	218858	218858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:218858G>A	ENST00000403657.1	-	12	2832	c.637C>T	c.(637-639)Cga>Tga	p.R213*	SH3YL1_ENST00000403712.2_Nonsense_Mutation_p.R309*|SH3YL1_ENST00000405430.1_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000415006.2_Nonsense_Mutation_p.R232*|SH3YL1_ENST00000403658.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000356150.5_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	328										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		GTTTGACCTCGAAGTTTTCCT	0.358000													18	26					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26400763	26400763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26400763G>T	ENST00000335473.7	+	42	6662	c.6412G>T	c.(6412-6414)Gat>Tat	p.D2138Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2138Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2139Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2138						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGGCCACAGATACTATGAG	0.552000													9	101					1.76689e-08	2.08373e-08	1	1	0
HNRNPAB	3182	broad.mit.edu	37	5	177634126	177634126	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:177634126A>C	ENST00000358344.3	+	5	826	c.569A>C	c.(568-570)aAg>aCg	p.K190T	HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K190T|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K190T	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	190	RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						ATGGATCCAAAGTTGAACAAA	0.443000													33	58					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70045061	70045061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70045061C>T	ENST00000432941.1	-	9	1000	c.798G>A	c.(796-798)tcG>tcA	p.S266S	PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000358769.2_Intron	NM_001033083.1	NP_001028255.1	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	0					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACACTAGCTTCGAATTAGGCA	0.398000													21	35					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32844236	32844236	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32844236T>A	ENST00000420878.3	-	3	536	c.81A>T	c.(79-81)gaA>gaT	p.E27D	ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E27D|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E27D|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E27D|ZSCAN30_ENST00000601405.1_Missense_Mutation_p.E27D	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	27					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						AAACATAATTTTCTTCTTCAA	0.488000													23	33					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66872602	66872602	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66872602A>G	ENST00000269080.2	-	33	4386	c.4250_splice	c.e33+1	p.W1417_splice	ABCA8_ENST00000430352.2_Splice_Site_p.W1457_splice|ABCA8_ENST00000586539.1_Splice_Site_p.W1457_splice	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1417	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)					GTTCCTCACCACATTTGCTGC	0.527000													5	94					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136598517	136598517	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136598517T>C	ENST00000264156.2	-	17	2414	c.2354A>G	c.(2353-2355)cAt>cGt	p.H785R		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	785					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|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AATTAGAACATGATCCTGTGA	0.423000													21	28					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67423799	67423799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67423799C>T	ENST00000357692.2	+	6	546	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MIER1_ENST00000355356.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R97*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R97*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R17*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R133*	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	104	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TAGTACTGTTCGACTACCTga	0.388000													21	33					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285788	85285788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85285788C>A	ENST00000450363.3	-	2	570	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Nonsense_Mutation_p.E38*|SLC6A15_ENST00000552192.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	38					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACAATTAGTTCACTTGTCTTA	0.383000													21	126					1.01871e-10	1.25646e-10	1	1	0
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000543843.1_Silent_p.F768F|OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000444676.1_Silent_p.F832F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	817					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AAGCCAACTTCGACATCAATC	0.542000													54	100					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539304	95539304	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95539304C>A	ENST00000297591.5	-	8	1243	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D390Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D390Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	390					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTATACAAATCTAAGAGTTCT	0.338000													34	69					4.65686e-17	6.22576e-17	1	1	0
IRX3	79191	broad.mit.edu	37	16	54319319	54319319	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:54319319G>A	ENST00000329734.3	-	2	1186	c.474C>T	c.(472-474)ggC>ggT	p.G158G		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	158					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TGATCTTCTCGCCCTTGGTGG	0.622000													40	101					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35815913	35815913	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35815913G>T	ENST00000216122.4	+	14	1894	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	MCM5_ENST00000382011.5_Missense_Mutation_p.E537D	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	580					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						AGGCTGCAGAGAAACTGAAGA	0.632000													23	60					3.5997e-14	4.67138e-14	1	1	0
ACRC	93953	broad.mit.edu	37	X	70832407	70832407	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832407G>A	ENST00000373695.1	+	11	2490	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.T651T			Q96QF7	ACRC_HUMAN	acidic repeat containing	651						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATGCAAAACGAGGTAAGACT	0.458000													13	14					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982699	7982699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982699C>T	ENST00000328600.2	-	2	621	c.460G>A	c.(460-462)Gct>Act	p.A154T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	154							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAATAGAGCCTCCACCGTG	0.572000													25	52					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714839	38714839	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714839C>T	ENST00000308742.4	+	3	1562	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.333000													31	91					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057988	152057988	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152057988G>A	ENST00000368806.1	-	3	2234	c.2170C>T	c.(2170-2172)Cta>Tta	p.L724L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	724							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)			TCCTCATCTAGACTTTCTAAC	0.448000													28	70					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110988687	110988687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110988687G>A	ENST00000368911.3	-	4	585	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CDK19_ENST00000323817.3_Missense_Mutation_p.L76F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	136	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATACCATCAAGAATCTGGTAA	0.328000													20	29					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94528743	94528743	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94528743G>T	ENST00000370225.3	-	12	1771	c.1685C>A	c.(1684-1686)tCt>tAt	p.S562Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.S562Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	562					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGGTAGAGAGCTGGTCCA	0.493000													49	101					2.52991e-16	3.36543e-16	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11114067	11114067	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11114067G>T	ENST00000358026.2	+	13	2279	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	SMARCA4_ENST00000344626.4_Missense_Mutation_p.E665D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E665D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	665	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGAAGAAGAGGAAGAGGTAA	0.507000			"""F, N, Mis"""		NSCLC								19	98					0.012319	0.012659	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135078870	135078870	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:135078870A>G	ENST00000428680.2	-	10	1697	c.1418T>C	c.(1417-1419)tTc>tCc	p.F473S	CNOT4_ENST00000451834.1_Missense_Mutation_p.F473S|CNOT4_ENST00000541284.1_Missense_Mutation_p.F476S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.F473S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.F476S|CNOT4_ENST00000315544.5_Missense_Mutation_p.F476S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	476					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATTGAGGGAACCTCTGGGG	0.502000													30	52					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154741450	154741450	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154741450T>G	ENST00000334398.3	-	5	787	c.642A>C	c.(640-642)gaA>gaC	p.E214D	TMLHE_ENST00000369439.4_Missense_Mutation_p.E214D|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	214					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATAAATGGTTTCTCTGTTAG	0.393000													35	71					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35974224G>T	ENST00000297866.5	+	8	1387	c.1321G>T	c.(1321-1323)Gaa>Taa	p.E441*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358000													23	50					5.26018e-13	6.70247e-13	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89480399G>T	ENST00000336596.2	+	13	2461	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D746Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	746	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTTCACCGAGACCTCGCTGC	0.498000										TSP Lung(6;0.00050)			19	31					4.35082e-09	5.20082e-09	1	1	0
APOB	338	broad.mit.edu	37	2	21230633	21230633	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21230633G>T	ENST00000233242.1	-	26	9234	c.9107C>A	c.(9106-9108)tCt>tAt	p.S3036Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3036					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	p.S3036Y(1)		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)	AAAGAAAAGAGAATTTTTCAA	0.408000													14	32					0.00244969	0.00255607	1	1	0
WDR44	54521	broad.mit.edu	37	X	117527097	117527097	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117527097A>C	ENST00000254029.3	+	4	1084	c.689A>C	c.(688-690)aAg>aCg	p.K230T	WDR44_ENST00000371822.5_Missense_Mutation_p.K205T|WDR44_ENST00000371825.3_Missense_Mutation_p.K230T|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	230	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTACAAAGAAGCCTGTTCCA	0.517000													65	123					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131262	40131262	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40131262C>T	ENST00000235628.1	-	3	363	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	122					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGACGATGTCGAAGACGTCC	0.577000													12	27					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737404	164737404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164737404C>T	ENST00000264382.3	-	28	3471	c.3409G>A	c.(3409-3411)Gac>Aac	p.D1137N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1137	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)	GGGGGTTGGTCTCTTGTGAAC	0.463000										HNSCC(35;0.089)			17	42					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671466	111671466	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111671466C>A	ENST00000431670.2	+	11	3090	c.2679C>A	c.(2677-2679)ctC>ctA	p.L893L	PHLDB2_ENST00000412622.1_Silent_p.L850L|PHLDB2_ENST00000393923.3_Silent_p.L877L|PHLDB2_ENST00000393925.3_Silent_p.L893L|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Silent_p.L850L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	893						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						AAGAAGGCCTCTATCTGAGTG	0.408000													36	46					9.8876e-21	1.35804e-20	1	1	0
LONRF1	91694	broad.mit.edu	37	8	12594474	12594474	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12594474A>C	ENST00000398246.3	-	5	1358	c.1289T>G	c.(1288-1290)tTg>tGg	p.L430W	LONRF1_ENST00000533751.1_Missense_Mutation_p.L73W	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	430					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TAAAAGAGACAACTTTCTTTT	0.338000													4	45					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92756986	92756986	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92756986A>C	ENST00000370360.3	-	4	355	c.274T>G	c.(274-276)Tta>Gta	p.L92V	GLMN_ENST00000534881.1_Missense_Mutation_p.L92V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	92					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTACCAATAAATCAAAGATC	0.308000									Multiple Glomus Tumors (of the Skin), Familial				22	8					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95196044	95196044	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95196044C>A	ENST00000354268.4	+	14	1809	c.1736C>A	c.(1735-1737)tCt>tAt	p.S579Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S579Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S149Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	579	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATTCTAGGTTCTCAAGAAGAA	0.284000													17	23					9.16793e-09	1.08598e-08	1	1	0
NOS3	4846	broad.mit.edu	37	7	150692348	150692348	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150692348G>T	ENST00000297494.3	+	3	573	c.216G>T	c.(214-216)aaG>aaT	p.K72N	NOS3_ENST00000484524.1_Missense_Mutation_p.K72N|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.K72N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	72					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTCGTGTGAAGAACTGGGAGG	0.642000													12	29					5.50884e-06	6.10489e-06	1	1	0
SPARC	6678	broad.mit.edu	37	5	151052738	151052738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151052738C>A	ENST00000231061.4	-	4	473	c.160G>T	c.(160-162)Gaa>Taa	p.E54*		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	54	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCATCAAATTCTCCTACTTCC	0.537000													15	96					3.27435e-08	3.83577e-08	1	1	0
NUDCD2	134492	broad.mit.edu	37	5	162883965	162883965	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162883965T>C	ENST00000302764.4	-	3	449	c.360A>G	c.(358-360)agA>agG	p.R120R	NUDCD2_ENST00000517501.1_Silent_p.R95R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	120						intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATGTAAGCTTTCTCTGCATTT	0.323000													14	50					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359836	71359836	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71359836C>T	ENST00000373677.1	+	2	2602	c.1340C>T	c.(1339-1341)aCt>aTt	p.T447I	NHSL2_ENST00000510661.1_Missense_Mutation_p.T582I|NHSL2_ENST00000535692.1_Missense_Mutation_p.T447I|NHSL2_ENST00000540800.1_Missense_Mutation_p.T813I			F5H593	F5H593_HUMAN	NHS-like 2	813										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCCCAGAAAACTAATCCCAAC	0.502000													9	19					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1																						CACCACTTCCAGGGAAGTGAA	0.527000													4	110					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15453106	15453106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15453106G>T	ENST00000380821.3	+	7	1059	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	SNAPC3_ENST00000380799.1_Missense_Mutation_p.D92Y	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	295					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TAGAATGGAAGATTTCACCTT	0.393000													16	59					4.14922e-12	5.21015e-12	1	1	0
AHSG	197	broad.mit.edu	37	3	186331076	186331076	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186331076A>C	ENST00000411641.2	+	1	365	c.146A>C	c.(145-147)aAt>aCt	p.N49T	AHSG_ENST00000273784.5_Missense_Mutation_p.N49T			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	49	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GACTACATCAATCAAAACCTT	0.478000													16	37					0	0	1	0	0
SSTR1	0	broad.mit.edu	37	14	38678969	38678969	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38678969C>T	ENST00000267377.2	+	3	992	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	125					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ACTGGCCCTTCGGTGCGCTGC	0.597000													74	172					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153019160	153019160	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153019160T>G	ENST00000367245.5	+	1	131	c.123T>G	c.(121-123)ttT>ttG	p.F41L	MYCT1_ENST00000529453.1_Missense_Mutation_p.F41L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	41						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTTCTCTTTCTTCTATTTC	0.318000													5	12					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938105	29938105	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29938105C>A	ENST00000378993.1	+	8	1624	c.951C>A	c.(949-951)atC>atA	p.I317I	IL1RAPL1_ENST00000302196.4_Silent_p.I317I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	317	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGTTTCCATCTCATTAATTG	0.393000													33	54					1.30998e-17	1.76095e-17	1	1	0
CD163	9332	broad.mit.edu	37	12	7649418	7649418	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7649418T>C	ENST00000359156.4	-	5	1292	c.1090A>G	c.(1090-1092)Aca>Gca	p.T364A	CD163_ENST00000432237.2_Missense_Mutation_p.T364A|CD163_ENST00000396620.3_Missense_Mutation_p.T364A|CD163_ENST00000541972.1_Missense_Mutation_p.T352A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	364	SRCR 3.				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						CCAGAACATGTCACGCCAGCA	0.423000													10	37					0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060820	33060820	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33060820G>A	ENST00000373510.4	+	4	1218	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R330Q	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGCCATTTTCGAACAGTATGT	0.383000													56	33					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382507	22382507	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22382507T>G	ENST00000328795.4	+	1	126	c.35T>G	c.(34-36)tTt>tGt	p.F12C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGACAGAATTTATCCTCCTT	0.348000													20	252					0	0	1	0	0
TSIX	0	broad.mit.edu	37	X	73046027	73046027	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73046027C>A	ENST00000604411.1	+	0	33988				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTGTCTAATTCTTCTCATTGG	0.458000													29	56					1.5548e-18	2.10666e-18	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111418353	111418353	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111418353G>T	ENST00000428084.1	-	36	3930	c.3658C>A	c.(3658-3660)Ctc>Atc	p.L1220I	DOCK4_ENST00000437633.1_Missense_Mutation_p.L1211I|DOCK4_ENST00000494651.2_Missense_Mutation_p.L94I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1211	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTGCTTTGAGATGCAGATCA	0.368000													21	41					7.87624e-14	1.01695e-13	1	1	0
BARD1	580	broad.mit.edu	37	2	215632245	215632245	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215632245A>G	ENST00000260947.4	-	6	1663	c.1529T>C	c.(1528-1530)gTc>gCc	p.V510A	BARD1_ENST00000449967.2_Missense_Mutation_p.V366A	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	510					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACAGCTTGACTATATCCAC	0.408000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	29					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164222	150164222	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150164222G>T	ENST00000307271.3	+	2	1010	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	146						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)		CTTGCTGCAAGATTTCATTGA	0.438000													24	44					2.21704e-12	2.79328e-12	1	1	0
CD163	9332	broad.mit.edu	37	12	7639348	7639348	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7639348A>C	ENST00000359156.4	-	10	2407	c.2205T>G	c.(2203-2205)taT>taG	p.Y735*	CD163_ENST00000432237.2_Nonsense_Mutation_p.Y735*|CD163_ENST00000396620.3_Nonsense_Mutation_p.Y768*|CD163_ENST00000541972.1_Nonsense_Mutation_p.Y723*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	735	SRCR 7.				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						AGCCCTCATGATAGATCTCTA	0.512000													41	104					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138742171	138742171	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138742171C>A	ENST00000389532.4	-	6	1009	c.945G>T	c.(943-945)ttG>ttT	p.L315F	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L326F|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L37F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	315	CH.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTATTACCTTCAACACTAATG	0.323000													34	51					2.42023e-17	3.24332e-17	1	1	0
ZNF20	7568	broad.mit.edu	37	19	12244261	12244261	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12244261C>A	ENST00000334213.5	-	4	964	c.740G>T	c.(739-741)aGa>aTa	p.R247I	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TGTGTGAGTTCTTTCATGTAC	0.403000													29	59					9.39395e-14	1.21013e-13	1	1	0
DBH	1621	broad.mit.edu	37	9	136507486	136507486	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136507486A>C	ENST00000393056.2	+	3	656	c.644A>C	c.(643-645)gAg>gCg	p.E215A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	215					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGCACCATGGAGGTCCAAGCT	0.587000													17	35					0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91755658	91755658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91755658C>A	ENST00000003100.8	-	5	844	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E122*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	221					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GCTACCTTTTCATTGAGTTGA	0.428000													6	13					3.59834e-05	3.93264e-05	1	1	0
TMEM255A	55026	broad.mit.edu	37	X	119425181	119425181	+	Silent	SNP	G	G	A	rs143048894	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119425181G>A	ENST00000371369.4	-	4	505	c.279C>T	c.(277-279)atC>atT	p.I93I	TMEM255A_ENST00000309720.5_Silent_p.I93I|TMEM255A_ENST00000440464.1_Silent_p.I93I	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		TGATAAACACGATAGAAGCCA	0.488000													3	18					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131872281	131872281	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131872281G>A	ENST00000359827.3	-	15	3904	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A981V			Q9HCM2	PLXA4_HUMAN	plexin A4	981	IPT/TIG 2.					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						GTTGCTTCCGGCATTCAGGTT	0.562000													24	271					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459027	36459027	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:36459027A>C	ENST00000265748.2	+	10	2029	c.1808A>C	c.(1807-1809)aAt>aCt	p.N603T	ANLN_ENST00000396068.2_Missense_Mutation_p.N566T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	603	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GATGCACTGAATATCTCCTCA	0.443000													29	32					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399910	40399910	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:40399910C>T	ENST00000338305.6	-	2	1485	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	315	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCTGGGGTCCCCAATGGCT	0.597000													21	47					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240878	3240878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3240878C>A	ENST00000217939.6	-	5	3002	c.2848G>T	c.(2848-2850)Gga>Tga	p.G950*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	950						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGACGATCCAACATCTGCT	0.507000													35	52					7.65355e-07	8.68711e-07	1	1	0
C5orf48	389320	broad.mit.edu	37	5	125968261	125968261	+	Missense_Mutation	SNP	G	G	A	rs147526168	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:125968261G>A	ENST00000357147.3	+	2	123	c.110G>A	c.(109-111)cGa>cAa	p.R37Q		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	37										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CATTTGCCACGATTTTCATTA	0.393000													7	18					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44152236	44152236	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:44152236T>C	ENST00000291539.6	+	6	557		c.e6+2		PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTCTCAAGGTACAGAGTCTT	0.527000													8	19					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8013686	8013686	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:8013686C>A	ENST00000533626.1	+	5	1117	c.491C>A	c.(490-492)tCt>tAt	p.S164Y	EIF3F_ENST00000449102.2_Missense_Mutation_p.S15Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.S164Y|EIF3F_ENST00000537635.1_Missense_Mutation_p.S179Y			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	164	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAAAGTTTCTCCAAATGAG	0.478000													10	15					1.76689e-08	2.08373e-08	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911592	101911592	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101911592C>A	ENST00000537097.1	+	6	3564	c.2751C>A	c.(2749-2751)gtC>gtA	p.V917V	GPRASP1_ENST00000444152.1_Silent_p.V917V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.V917V|GPRASP1_ENST00000415986.1_Silent_p.V917V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	917	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAAAGAAGTCAGTGAAGAAG	0.463000													33	92					2.61193e-14	3.39424e-14	1	1	0
ATP2B4	493	broad.mit.edu	37	1	203691694	203691694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203691694C>T	ENST00000357681.5	+	18	4024	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	ATP2B4_ENST00000391954.2_Silent_p.F967F|ATP2B4_ENST00000367218.3_Silent_p.F967F|ATP2B4_ENST00000367219.3_Silent_p.F955F|ATP2B4_ENST00000341360.2_Silent_p.F967F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	967					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTAACACCTTCGTGCTGATGC	0.448000													25	58					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55646215	55646215	+	Translation_Start_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55646215T>C	ENST00000436346.1	-	1	842	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000413716.2_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000336838.6_Start_Codon_SNP_p.M1V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCGTTCTCCATTTTACAGAGT	0.388000													13	22					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155312322	155312322	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155312322G>T	ENST00000357232.3	-	1	127	c.128C>A	c.(127-129)tCt>tAt	p.S43Y	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	43					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCTCTGAGATTTCACAAT	0.323000													3	18					0.150653	0.151842	1	1	0
EFHD1	80303	broad.mit.edu	37	2	233498584	233498584	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:233498584C>T	ENST00000264059.3	+	1	647	c.170C>T	c.(169-171)gCc>gTc	p.A57V	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	57							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAGCTGAGCGCCCAGCTGAGC	0.771000													5	9					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15646324	15646324	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15646324T>G	ENST00000341285.3	-	2	216	c.92A>C	c.(91-93)aAa>aCa	p.K31T	FBXL5_ENST00000412094.2_Intron|FBXL5_ENST00000382358.4_5'UTR	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	31	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAAATTGGTTTTAGAAAGCTG	0.303000													13	12					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605283	13605283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605283C>A	ENST00000040738.5	-	10	3376	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1081							DNA binding										TTGGCCATTTCTTGTGACAAG	0.418000													12	40					0.000978159	0.00102903	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100947714	100947714	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100947714G>T	ENST00000193391.7	-	18	3827	c.3640C>A	c.(3640-3642)Caa>Aaa	p.Q1214K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1214	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTCTCTCTTGAATTTCCTTA	0.383000													12	23					0.000978159	0.00102903	1	1	0
PLA2G1B	5319	broad.mit.edu	37	12	120762808	120762808	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120762808T>G	ENST00000308366.4	-	3	286	c.251A>C	c.(250-252)aAa>aCa	p.K84T	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.K55T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	84					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGAAATTTACAGCTGTC	0.512000											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	58					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433253	72433253	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433253C>T	ENST00000373517.3	-	1	1431	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R217Q	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	359					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTTACAGTTCGGATTGTTCC	0.373000													25	41					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637245	129637245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:129637245C>A	ENST00000421865.2	+	27	4036	c.3987C>A	c.(3985-3987)ttC>ttA	p.F1329L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1329	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)		GAGAAGACTTCTTGGATATAC	0.338000													19	41					2.94398e-08	3.45884e-08	1	1	0
FBXO39	162517	broad.mit.edu	37	17	6690193	6690193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6690193T>G	ENST00000321535.4	+	3	1248	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	373										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TACTTCAAAATCTGGGCTTTC	0.463000													39	65					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112329633	112329633	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:112329633A>C	ENST00000369697.1	-	2	1271	c.1202T>G	c.(1201-1203)gTg>gGg	p.V401G	KCND3_ENST00000302127.4_Missense_Mutation_p.V401G|KCND3_ENST00000315987.2_Missense_Mutation_p.V401G			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	401						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGAAACAATCACAGGGACTGG	0.542000													34	41					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75234763	75234763	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75234763T>G	ENST00000360663.5	-	4	548	c.437A>C	c.(436-438)aAg>aCg	p.K146T	PPP3CB_ENST00000342558.3_Missense_Mutation_p.K146T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000545874.1_Missense_Mutation_p.K60T|PPP3CB_ENST00000394822.2_Missense_Mutation_p.K164T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.K146T			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	146	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTATAGAATCTTCAGAACCCA	0.348000													4	41					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25615832	25615832	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25615832G>A	ENST00000232165.3	-	6	2145	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C|UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C|UBE3A_ENST00000397954.2_Missense_Mutation_p.R500C	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	500	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.R500C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGTACATGCGAATTCTATTG	0.343000													15	33					0	0	1	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189200	26189200	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26189200G>A	ENST00000340756.2	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	35					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CCAGGCGGCGGATAGCGGGCT	0.572000													57	21					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52610695G>A	ENST00000356770.4	-	21	3459	c.3457C>T	c.(3457-3459)Cga>Tga	p.R1153*	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*			Q86U86	PB1_HUMAN	polybromo 1	1185					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R1185*(3)|p.R1153*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCCATCTCGAACCCATACT	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								9	25					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476172	35476172	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35476172C>A	ENST00000357182.4	-	10	1595	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K456N|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K456N	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	456					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGAGCAATTCTTGCCACAAA	0.368000													25	59					5.35047e-06	5.94462e-06	1	1	0
MT-ND5	4540	broad.mit.edu	37	MT	13093	13093	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrM:13093G>A	ENST00000361567.2	+	1	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	253			V -> A (in MT-C1D).		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CAAGCACTATAGTTGTAGCAG	0.522000													181	30					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291306	22291306	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22291306C>A	ENST00000323684.1	+	1	242	c.198C>A	c.(196-198)atC>atA	p.I66I		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	66						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CTATTAAAATCTATGGGCGAA	0.383000													29	56					4.87955e-14	6.31333e-14	1	1	0
HAS1	3036	broad.mit.edu	37	19	52216986	52216986	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52216986G>A	ENST00000540069.2	-	5	1488	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	HAS1_ENST00000222115.1_Silent_p.F477F|HAS1_ENST00000601714.1_Silent_p.F484F			Q92839	HAS1_HUMAN	hyaluronan synthase 1	477					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTAGCGCCAGGAACTTGGCAG	0.692000													8	14					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775514	47775514	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775514G>T	ENST00000376954.1	+	6	1837	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I			P51508	ZNF81_HUMAN	zinc finger protein 81	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R490I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATGCATAAGAGAATTCATACA	0.408000													24	43					3.83957e-06	4.27438e-06	1	1	0
FGG	2266	broad.mit.edu	37	4	155529776	155529776	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155529776C>A	ENST00000404648.3	-	7	932	c.693G>T	c.(691-693)aaG>aaT	p.K231N	FGG_ENST00000336098.3_Missense_Mutation_p.K231N|FGG_ENST00000407946.1_Missense_Mutation_p.K239N|FGG_ENST00000405164.1_Missense_Mutation_p.K239N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	231	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCCAGTTTTTCTTGAAATCTA	0.358000													12	24					0.00010058	0.000108553	1	1	0
OR51G1	79324	broad.mit.edu	37	11	4945040	4945040	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4945040G>A	ENST00000321961.2	-	1	597	c.530C>T	c.(529-531)gCt>gTt	p.A177V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAGCATGAGCCAGCACATG	0.522000													15	41					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25378555	25378555	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25378555C>A	ENST00000255324.5	+	15	2131	c.2079C>A	c.(2077-2079)ttC>ttA	p.F693L	RNF17_ENST00000381921.1_Missense_Mutation_p.F693L|RNF17_ENST00000255325.5_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	693					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTGGAGATTTCTATCTTCAGT	0.274000													3	12					0.004672	0.00483628	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151945640	151945640	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945640C>A	ENST00000355193.2	-	14	2097	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.D627Y					lysine (K)-specific methyltransferase 2C																		ATTTTCAGGTCTTCACTATCA	0.338000													4	33					0.00024832	0.000265255	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519003	113519003	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519003G>T	ENST00000284601.3	-	4	2212	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	715					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						ATCAGCTAGAGAAGACAGTTC	0.408000													37	84					1.21669e-08	1.44061e-08	1	1	0
PIWIL4	143689	broad.mit.edu	37	11	94322371	94322371	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94322371G>T	ENST00000299001.6	+	8	1210	c.999G>T	c.(997-999)gaG>gaT	p.E333D	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	333	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGCACCGAGATCACCTATG	0.423000													20	45					2.4624e-09	2.95225e-09	1	1	0
WDR89	112840	broad.mit.edu	37	14	64066363	64066363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066363G>A	ENST00000394942.2	-	2	386	c.298C>T	c.(298-300)Cga>Tga	p.R100*	WDR89_ENST00000267522.3_Nonsense_Mutation_p.R100*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	100										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTGGCTACTCGAGCATCCCAG	0.383000													10	24					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5805106	5805106	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5805106C>A	ENST00000339450.5	-	10	1924	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	ERMP1_ENST00000543230.1_Missense_Mutation_p.R190I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Intron	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	612					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGAACCACTTCTCCCGAGGAT	0.383000													9	47					2.17888e-05	2.39107e-05	1	1	0
PROM2	150696	broad.mit.edu	37	2	95950732	95950732	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:95950732C>T	ENST00000317620.9	+	15	1877	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAACAAGCTACGGCAGGAGTT	0.627000													8	9					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2227591	2227591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2227591G>A	ENST00000301364.4	-	15	3393	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	772					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGAAGACTCGTTTATACAGG	0.443000													32	50					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456433	47456433	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47456433C>T	ENST00000265565.5	-	20	3602	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	SCAP_ENST00000545718.1_Missense_Mutation_p.D671N|SCAP_ENST00000441517.2_Missense_Mutation_p.D808N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1064	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCCACTGTGTCGCTGCTGCTG	0.597000													4	68					0	0	1	0	0
SKA2	348235	broad.mit.edu	37	17	57196697	57196697	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57196697T>C	ENST00000330137.7	-	3	385	c.280A>G	c.(280-282)Aag>Gag	p.K94E	SKA2_ENST00000578105.1_Missense_Mutation_p.K65E|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.K94E	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	94					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						TCTGTTTGCTTCTGTAGTTTT	0.378000													15	32					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453329	21453329	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21453329T>G	ENST00000307378.6	-	9	1583	c.863A>C	c.(862-864)gAc>gCc	p.D288A	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D286A|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D288A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	288					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTTTTGTTTGTCTTCATTTTC	0.318000													8	16					0	0	1	0	0
GRPEL2	134266	broad.mit.edu	37	5	148730559	148730559	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:148730559C>T	ENST00000329271.3	+	4	502	c.392C>T	c.(391-393)tCg>tTg	p.S131L	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.R104W|RP11-394O4.4_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	131					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGAATCGGAGCCTGAG	0.473000													46	87					0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133781007	133781007	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133781007G>T	ENST00000536435.2	+	6	3065	c.2735G>T	c.(2734-2736)aGa>aTa	p.R912I	ZNF268_ENST00000228289.5_Missense_Mutation_p.R912I|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R751I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	912						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCACATCAGAGAACACATACA	0.418000													4	11					0.014758	0.015099	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13866373	13866373	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13866373C>T	ENST00000265104.4	-	26	4176	c.4072G>A	c.(4072-4074)Ggc>Agc	p.G1358S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1358	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)					GGCTTCAAGCCGCTAGCCATT	0.318000									Kartagener syndrome				10	12					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799080	209799080	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209799080T>G	ENST00000391911.1	-	13	2278	c.1889A>C	c.(1888-1890)aAg>aCg	p.K630T	LAMB3_ENST00000356082.4_Missense_Mutation_p.K630T|LAMB3_ENST00000367030.3_Missense_Mutation_p.K630T	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	630	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)		CTGCTCAATCTTACTCTTTGC	0.612000													31	65					0	0	1	0	0
TRBV4-2	0	broad.mit.edu	37	7	142045611	142045611	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142045611G>T	ENST00000390392.3	+	0	250																											ACAACATCTGGGGCATAACGC	0.458000													47	82					2.47872e-24	3.47838e-24	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113960026	113960026	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113960026C>A	ENST00000297405.5	-	9	1745	c.1501G>T	c.(1501-1503)Gat>Tat	p.D501Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D461Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D397Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D501Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	501	Sushi 2.					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						TACCTAAAATCTGATCCGATT	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	8					0.00909568	0.00935351	1	1	0
KIAA1257	57501	broad.mit.edu	37	3	128696954	128696954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128696954C>A	ENST00000265068.5	-	5	909	c.742G>T	c.(742-744)Gag>Tag	p.E248*	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E248*|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E136*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	248										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGGTTCGACTCTTCTCTGACA	0.418000													11	41					2.27111e-07	2.60515e-07	1	1	0
DENND1B	163486	broad.mit.edu	37	1	197704925	197704925	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197704925C>A	ENST00000235453.4	-	0	120				DENND1B_ENST00000367396.3_Intron|DENND1B_ENST00000477581.1_5'UTR			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B							clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTGGACTGTCCTCTACAGAAA	0.468000													9	23					1.12685e-05	1.24509e-05	1	1	0
CYB5R4	51167	broad.mit.edu	37	6	84649908	84649908	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84649908T>G	ENST00000369681.4	+	13	1382	c.1242T>G	c.(1240-1242)acT>acG	p.T414T	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	414					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATGCTTTGACTGATATACCCA	0.333000													10	38					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202985262	202985262	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202985262T>G	ENST00000367242.3	+	5	782	c.702T>G	c.(700-702)aaT>aaG	p.N234K	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATTAAAGAATTCCAAAGTAA	0.458000													49	68					0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878856	12878856	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12878856G>A	ENST00000524591.2	+	5	1157	c.668G>A	c.(667-669)aGa>aAa	p.R223K	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	223							methyltransferase activity	p.R223I(1)|p.R136I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCTATGGCAAGAACCTGTTTT	0.428000													25	70					0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096521	52096521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52096521C>T	ENST00000274311.2	+	2	1278	c.293C>T	c.(292-294)gCt>gTt	p.A98V	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	98					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AAGATGGGGGCTTACCACACC	0.582000													23	34					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52681946	52681946	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:52681946C>A	ENST00000298181.5	-	3	316	c.158G>T	c.(157-159)aGa>aTa	p.R53I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	53	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTCATACTTTCTCTTCATATA	0.393000													36	66					6.97489e-18	9.40748e-18	1	1	0
VPS11	55823	broad.mit.edu	37	11	118952233	118952233	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118952233A>C	ENST00000300793.6	+	17	2765	c.2723A>C	c.(2722-2724)aAa>aCa	p.K908T	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	909					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GTTTTCAACAAATTGACTCTG	0.532000													6	104					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5254275	5254275	+	Missense_Mutation	SNP	C	C	A	rs148878316	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5254275C>A	ENST00000380299.3	-	3	577	c.363G>T	c.(361-363)aaG>aaT	p.K121N	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	121					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGAATTCCTTGCCAAAGT	0.512000													32	58					2.85442e-18	3.86477e-18	1	1	0
MAST1	22983	broad.mit.edu	37	19	12958187	12958187	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12958187C>T	ENST00000251472.4	+	5	450	c.411C>T	c.(409-411)ttC>ttT	p.F137F	MAST1_ENST00000591495.1_Silent_p.F133F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	137					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAAACACTTCGGGAGCACCG	0.677000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	48					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139766	101139766	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139766C>A	ENST00000372782.3	-	7	680	c.633G>T	c.(631-633)aaG>aaT	p.K211N	ZMAT1_ENST00000458570.1_Missense_Mutation_p.K40N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K211N	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	40						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTTGAATTCTTCACTAGAT	0.313000													45	93					9.39024e-22	1.29924e-21	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122561805	122561805	+	Missense_Mutation	SNP	C	C	T	rs137852351		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122561805C>T	ENST00000264357.5	+	12	2183	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371251.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	631			R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics).		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R631C(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACTCTCCGGGCGCATTGTTGG	0.438000													15	113					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176798548	176798548	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176798548C>T	ENST00000408923.3	+	14	1644	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	486					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGAAGGTGCCCAGTAGTGC	0.577000													74	122					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468995	56468995	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468995C>T	ENST00000288221.6	-	2	296	c.41G>A	c.(40-42)aGc>aAc	p.S14N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	14						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTGGAAGGGCTACCTTCCAG	0.463000													7	33					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179676006	179676006	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179676006C>T	ENST00000452135.2	-	6	881	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.E195K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.E195K|MAPK9_ENST00000539014.1_Missense_Mutation_p.E195K|MAPK9_ENST00000343111.6_Missense_Mutation_p.E195K|MAPK9_ENST00000455781.1_Missense_Mutation_p.E195K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E195K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	195	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATGACTTCGGGCGCCCGG	0.552000													27	367					0	0	1	0	0
C19orf12	83636	broad.mit.edu	37	19	30193874	30193874	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30193874G>A	ENST00000323670.9	-	3	310	c.171C>T	c.(169-171)gtC>gtT	p.V57V	C19orf12_ENST00000392278.2_Silent_p.V68V|C19orf12_ENST00000592153.1_Silent_p.V57V|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392276.1_5'UTR	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	57						integral to membrane		p.V68V(1)				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			ACAGCCCCCCGACAGCCCCCC	0.522000													42	73					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170395	16170395	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:16170395G>A	ENST00000380289.2	+	3	1180	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	261					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCCCGGAAGCGACTTGCCAAG	0.517000													47	91					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101248328	101248328	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:101248328T>G	ENST00000369162.2	-	6	1319	c.975A>C	c.(973-975)caA>caC	p.Q325H	ASCC3_ENST00000522650.1_Missense_Mutation_p.Q325H	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAATAGTGACTTGACAACCAT	0.303000													11	11					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88542259	88542259	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88542259T>C	ENST00000266712.6	+	2	387	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	56						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAAATGACTTCTGGGGAACC	0.313000													10	15					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42152412	42152412	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42152412C>A	ENST00000269097.4	+	4	723	c.492C>A	c.(490-492)atC>atA	p.I164I		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	164					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAATCTTCATCTTAGCACATT	0.552000													49	118					6.03219e-31	8.6264e-31	1	1	0
ZFR	51663	broad.mit.edu	37	5	32404114	32404114	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32404114G>T	ENST00000265069.8	-	7	1223	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	374					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCCACGAGTAGAACTGTTGCT	0.423000													20	53					0.000132079	0.000142521	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077055	57077055	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57077055C>A	ENST00000532437.1	-	5	3441	c.3130G>T	c.(3130-3132)Gac>Tac	p.D1044Y	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1044Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1044	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCTGGTCTCTCTGCCCG	0.652000													43	69					3.05275e-18	4.13032e-18	1	1	0
DOK5	55816	broad.mit.edu	37	20	53171574	53171574	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:53171574C>A	ENST00000262593.5	+	2	519	c.169C>A	c.(169-171)Cat>Aat	p.H57N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	57	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAGGTGTTATCATAAGGTAAG	0.373000													11	14					7.93312e-07	8.98086e-07	1	1	0
EPG5	57724	broad.mit.edu	37	18	43523145	43523145	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:43523145C>T	ENST00000282041.5	-	9	1959	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	642					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATAACCAATTCGCTTCACAAA	0.433000													37	73					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696697	68696697	+	Silent	SNP	C	C	T	rs137852670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68696697C>T	ENST00000255078.3	+	8	1218	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	369	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAGCTACTTCGACGTGGTGG	0.642000													46	76					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60040120	60040120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60040120G>A	ENST00000397786.2	-	21	5133	c.5057C>T	c.(5056-5058)tCt>tTt	p.S1686F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1686					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACCTGTACAGAAACAGTACT	0.368000													20	47					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32289731	32289731	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32289731C>T	ENST00000400246.1	+	39	4339	c.4197C>T	c.(4195-4197)ttC>ttT	p.F1399F	DEPDC5_ENST00000535622.1_Silent_p.F1299F|DEPDC5_ENST00000400248.1_Silent_p.F1368F|DEPDC5_ENST00000266091.3_Silent_p.F1377F|DEPDC5_ENST00000400249.2_Silent_p.F1368F|DEPDC5_ENST00000382112.3_Silent_p.F1390F|DEPDC5_ENST00000539165.1_Silent_p.F216F|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382111.2_Silent_p.F1399F			O75140	DEPD5_HUMAN	DEP domain containing 5	1368				L -> P (in Ref. 6; CAH18159).	intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGTACTCTTCGAGATGGTGA	0.483000													26	31					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310994	178310994	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310994G>T	ENST00000322434.3	+	5	1767	c.1541G>T	c.(1540-1542)aGa>aTa	p.R514I	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCACCAGAGAATTCATACT	0.393000													25	51					5.35356e-11	6.62625e-11	1	1	0
BTN2A3P	0	broad.mit.edu	37	6	26428198	26428198	+	RNA	SNP	A	A	C	rs142784664	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26428198A>C	ENST00000466808.2	+	0	1167																											TGGATCAACAATCTCCAAAAG	0.413000													12	67					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	111003114	111003114	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111003114G>T	ENST00000394780.3	+	27	3313	c.3301G>T	c.(3301-3303)Gtt>Ttt	p.V1101F	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.V918F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1101					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CTGGCATCCAGTTGGTACAGC	0.498000													17	26					2.48551e-13	3.17925e-13	1	1	0
RHPN2	85415	broad.mit.edu	37	19	33490569	33490569	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33490569G>A	ENST00000254260.3	-	10	1183	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	RHPN2_ENST00000400226.4_Missense_Mutation_p.S232F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	383	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTAGAGCTGGGACAGGCACTT	0.597000													4	64					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14761493	14761493	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14761493A>G	ENST00000261658.2	+	8	1439	c.1160_splice	c.e8-1	p.T388_splice	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Splice_Site_p.T263_splice|BFAR_ENST00000426842.2_Splice_Site_p.T260_splice	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	388					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TTGTTTCAGGACCGTGCCTCA	0.557000													28	65					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59160818	59160818	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59160818T>C	ENST00000472487.1	-	2	169	c.130A>G	c.(130-132)Aca>Gca	p.T44A		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	44					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)					CCATTCTCTGTTCTCCAAGAT	0.274000													8	9					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225933	158225933	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158225933G>A	ENST00000289429.5	+	3	998	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	155					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G155G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTGGCTGGGAATATGGCCA	0.443000													29	61					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326134	57326134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57326134G>A	ENST00000326441.9	-	10	4039	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1226					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1226>?(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAAGGCATCGAATGGCCGAC	0.502000													30	48					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33332303	33332303	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33332303A>C	ENST00000315596.10	+	27	3321	c.3135A>C	c.(3133-3135)gaA>gaC	p.E1045D		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1045					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGTAGAAAATATTAAAC	0.264000													15	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179517234	179517234	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179517234C>A	ENST00000589042.1	-	202	39302	c.39078G>T	c.(39076-39078)aaG>aaT	p.K13026N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10592N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11519N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11380	Ig-like 86.						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)			CTGGCACTTTCTTTTCAGGAA	0.378000													49	103					4.86159e-25	6.8376e-25	1	1	0
CTAGE9	643854	broad.mit.edu	37	6	132030936	132030936	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132030936A>C	ENST00000314099.8	-	1	1270	c.1222T>G	c.(1222-1224)Tac>Gac	p.Y408D	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	408						integral to membrane				endometrium(1)|lung(1)	2						TCTATTCGGTAATTTTCCTCC	0.368000													15	30					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49083511	49083511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49083511C>A	ENST00000380950.2	-	8	1082	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.E299*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.E206*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	299					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATCTCTCTTTCTTTTCCATTC	0.338000													13	15					1.5842e-08	1.87418e-08	1	1	0
KIF5C	3800	broad.mit.edu	37	2	149818500	149818500	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149818500G>T	ENST00000435030.1	+	11	1352	c.984G>T	c.(982-984)aaG>aaT	p.K328N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.K96N|KIF5C_ENST00000414838.2_Missense_Mutation_p.K233N			O60282	KIF5C_HUMAN	kinesin family member 5C	328	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGACCATCAAGAATACAGTCT	0.358000													29	50					9.65021e-13	1.22324e-12	1	1	0
CAMKK1	84254	broad.mit.edu	37	17	3773125	3773125	+	Silent	SNP	G	G	A	rs147240137		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3773125G>A	ENST00000381771.2	-	14	1443	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	CAMKK1_ENST00000348335.2_Silent_p.P394P|CAMKK1_ENST00000158166.5_Silent_p.P432P|CAMKK1_ENST00000381769.2_Silent_p.P421P			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	394					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TTCTCGTCTCGGGATTCTTGT	0.572000													21	76					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70344099	70344099	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70344099A>C	ENST00000333646.6	+	13	2034	c.1835A>C	c.(1834-1836)aAc>aCc	p.N612T	MED12_ENST00000374080.3_Missense_Mutation_p.N612T|MED12_ENST00000374102.1_Missense_Mutation_p.N612T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	612					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCTCCCACAACATGTATACT	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						22	33					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396557	85396557	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396557G>A	ENST00000316398.3	-	1	763	c.617C>T	c.(616-618)gCg>gTg	p.A206V		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	206						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTCTCGCGCGCCTGTGCCTG	0.617000													42	117					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209974599	209974599	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209974599T>G	ENST00000367021.3	-	3	332	c.160A>C	c.(160-162)Aat>Cat	p.N54H	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	54					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AAAATGGTATTTTCCTCTTCT	0.428000										HNSCC(57;0.16)			38	67					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91090060	91090060	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:91090060A>C	ENST00000375859.3	+	6	935	c.657A>C	c.(655-657)gaA>gaC	p.E219D	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.E219D	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	219					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AACAAGTGGAATATGCCAAAG	0.393000													17	45					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912214	131912214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131912214C>A	ENST00000359827.3	-	7	2840	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E626D			Q9HCM2	PLXA4_HUMAN	plexin A4	626						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						GCTCACCATTCTCTGTGATGA	0.572000													8	22					0.000157383	0.000169016	1	1	0
ZNF619	285267	broad.mit.edu	37	3	40528772	40528772	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40528772G>T	ENST00000447116.2	+	6	1198	c.891G>T	c.(889-891)gaG>gaT	p.E297D	ZNF619_ENST00000314686.5_Missense_Mutation_p.E241D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.E257D|ZNF619_ENST00000522736.1_Missense_Mutation_p.E248D|ZNF619_ENST00000456778.1_Missense_Mutation_p.E213D|ZNF619_ENST00000432264.2_Missense_Mutation_p.E257D|ZNF619_ENST00000521353.1_Missense_Mutation_p.E297D	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	297					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACACTGGAGAGAAACCATACT	0.443000													20	43					3.99206e-14	5.17458e-14	1	1	0
AK9	221264	broad.mit.edu	37	6	109816601	109816601	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109816601A>G	ENST00000424296.2	-	39	5434	c.5358T>C	c.(5356-5358)ctT>ctC	p.L1786L	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTAATGGGGGAAGCTTGTGTG	0.383000													15	31					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108926385	108926385	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108926385T>G	ENST00000340800.2	-	4	835	c.331A>C	c.(331-333)Aat>Cat	p.N111H	ACSL4_ENST00000348502.6_Missense_Mutation_p.N70H|ACSL4_ENST00000469796.2_Missense_Mutation_p.N111H	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	111					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ACTTTTCCATTTGGCTGCATT	0.348000													10	53					0	0	1	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106146382	106146382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106146382C>A	ENST00000276173.4	-	1	165	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E46*	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	46					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						CCATTTACTTCTTGTCCAGAG	0.527000													8	16					1.12685e-05	1.24509e-05	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167056352	167056352	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167056352A>C	ENST00000375387.4	-	27	5140	c.4800T>G	c.(4798-4800)atT>atG	p.I1600M	SCN9A_ENST00000409672.1_Missense_Mutation_p.I1588M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1599M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1600M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1599						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)	AATACGTTTCAATCAAATCAG	0.408000													11	100					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102751	168102751	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168102751G>A	ENST00000409195.1	+	9	4938	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1617N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1395N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1442					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						TTCCAAAAGGGACTGTACTGA	0.333000													13	23					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15720728	15720728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:15720728A>C	ENST00000378076.3	-	5	976	c.623T>G	c.(622-624)tTt>tGt	p.F208C		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	208					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CACCTTATAAAAATCCAGACT	0.403000													27	36					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344194	72344194	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72344194G>A	ENST00000299687.5	+	1	1219	c.1219G>A	c.(1219-1221)Ggt>Agt	p.G407S	ZNF407_ENST00000582337.1_Missense_Mutation_p.G407S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G407S|ZNF407_ENST00000309902.6_Missense_Mutation_p.G407S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGCACACGGTAACAGTGT	0.468000													16	39					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288858	57288858	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57288858T>C	ENST00000543872.2	+	2	1710	c.1446T>C	c.(1444-1446)atT>atC	p.I482I	SMG8_ENST00000300917.5_Silent_p.I482I|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.I482I|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	482					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TAAGCAGTATTAAAGTCTTGG	0.423000													27	48					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8143718	8143718	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8143718C>T	ENST00000332175.8	+	14	3278	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000400060.4_Silent_p.I747I|PTPRM_ENST00000444013.1_Silent_p.I534I|PTPRM_ENST00000580170.1_Silent_p.I747I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	747					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGAGTCATCGCGGGCATCT	0.438000													46	76					0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066116	241066116	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241066116C>T	ENST00000307266.3	-	5	622	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGACCTCTCGCCTGCTTCT	0.478000													27	87					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650172	146650172	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:146650172C>T	ENST00000607149.1	+	0	350																											TAGGTTTTTTCGATGATTCAT	0.438000													25	51					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935644	56935644	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935644G>A	ENST00000333201.9	+	5	1827	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF583_ENST00000291598.7_Silent_p.E539E|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTCATCATGAGAGAATTCATa	0.418000													13	42					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511925	36511925	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36511925G>A	ENST00000526995.1	-	7	1278	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TRAF6_ENST00000348124.5_Silent_p.I344I	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	344	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGTGCTTCGATTTCAGCAA	0.408000													31	86					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536087	69536087	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69536087T>G	ENST00000338206.5	-	1	259	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	84					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCCAAATAATTTTTAGTTAAA	0.308000													52	74					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692796	20692796	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692796C>A	ENST00000315519.2	+	1	1006	c.928C>A	c.(928-930)Ctt>Att	p.L310I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTATAGTCTTCGAAACAA	0.418000													40	75					5.73237e-09	6.82905e-09	1	1	0
LHCGR	3973	broad.mit.edu	37	2	48915866	48915866	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48915866A>G	ENST00000294954.7	-	11	1091	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	LHCGR_ENST00000344775.3_Missense_Mutation_p.M295T|LHCGR_ENST00000405626.1_Missense_Mutation_p.M330T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	357					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCATAGCCCATAATATCTTC	0.428000													39	51					0	0	1	0	0
PCDHGA9	0	broad.mit.edu	37	5	140784372	140784372	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140784372C>T	ENST00000573521.1	+	1	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCTTCTCGGTGGGGCTG	0.602000													38	49					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607896	68607896	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68607896C>A	ENST00000234313.7	+	3	419	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	80	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGACCACTTCTTCCAGGCAG	0.463000													62	102					6.2918e-36	9.04828e-36	1	1	0
HERC3	8916	broad.mit.edu	37	4	89577136	89577136	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89577136C>A	ENST00000402738.1	+	9	1258	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	HERC3_ENST00000264345.3_Missense_Mutation_p.P340H|HERC3_ENST00000407637.1_Missense_Mutation_p.P340H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	340					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGCCCATCTCCTGTCAAGGGT	0.463000													23	33					9.95505e-16	1.31587e-15	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414549	29414549	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29414549C>A	ENST00000378993.1	+	4	1210	c.537C>A	c.(535-537)atC>atA	p.I179I	IL1RAPL1_ENST00000302196.4_Silent_p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	179	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCTGAAATCCTTTGGTACA	0.378000													28	79					1.88708e-17	2.5355e-17	1	1	0
NRK	203447	broad.mit.edu	37	X	105187975	105187975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105187975C>A	ENST00000428173.2	+	24	4307	c.4004C>A	c.(4003-4005)tCa>tAa	p.S1335*	NRK_ENST00000243300.9_Nonsense_Mutation_p.S1334*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1334	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S1335*(1)|p.S1334*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTTTGAAATCATCAATTCAC	0.323000										HNSCC(51;0.14)			3	6					0.00909568	0.00935351	1	1	0
TENM1	10178	broad.mit.edu	37	X	124097442	124097442	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:124097442C>A	ENST00000422452.2	-	1	224	c.161G>T	c.(160-162)aGg>aTg	p.R54M	TENM1_ENST00000371130.3_Missense_Mutation_p.R54M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTAATTCATCCTCAGCTCCTG	0.373000													72	101					3.61678e-42	5.2321e-42	1	1	0
CHRDL2	25884	broad.mit.edu	37	11	74421962	74421962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74421962C>A	ENST00000376332.3	-	4	860	c.364G>T	c.(364-366)Gag>Tag	p.E122*	CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.E122*|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	122	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGAAGATCTCTCCGTGTTGG	0.612000													10	16					0.00621372	0.0064192	1	1	0
TCP10L	140290	broad.mit.edu	37	21	33949164	33949164	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33949164G>T	ENST00000300258.3	-	5	681	c.568C>A	c.(568-570)Ctt>Att	p.L190I	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CTCCTGGAAAGATTTTTATCT	0.448000													31	52					2.70662e-09	3.24368e-09	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108126842	108126842	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:108126842C>A	ENST00000374720.3	+	10	1341	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	SLC44A1_ENST00000343170.7_Missense_Mutation_p.P157H|SLC44A1_ENST00000374723.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.P365H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	365						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTAGGCAGTCCTGTTCAGAAT	0.443000													45	79					2.20914e-33	3.16969e-33	1	1	0
NR3C2	0	broad.mit.edu	37	4	149181258	149181258	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:149181258C>T	ENST00000355292.3	-	3	2131	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	NR3C2_ENST00000358102.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.R590Q			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	590	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R590Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGAAACACTTCGTAAAGTAGA	0.413000													12	31					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39384111	39384111	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39384111G>A	ENST00000249396.7	-	4	470	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	SIRT2_ENST00000358931.5_Missense_Mutation_p.R57C|SIRT2_ENST00000392081.2_Missense_Mutation_p.R20C	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	57					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCAGCAGACGCTCCTTCTGG	0.617000													13	16					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779068	64779068	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64779068G>T	ENST00000422803.1	+	2	774	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	AFTPH_ENST00000409933.1_Missense_Mutation_p.D154Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D154Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D154Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	154					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTCTCCAGGAGATTTTAGAAC	0.388000													16	38					3.45872e-05	3.78815e-05	1	1	0
DUSP16	80824	broad.mit.edu	37	12	12633209	12633209	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12633209C>T	ENST00000228862.2	-	6	1394	c.763G>A	c.(763-765)Gct>Act	p.A255T	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	255	Tyrosine-protein phosphatase.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TAGGCGATAGCGATGGTGGCG	0.458000													45	85					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124358483	124358483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124358483C>T	ENST00000287394.5	-	18	2482	c.2375G>A	c.(2374-2376)cGa>cAa	p.R792Q	ATAD2_ENST00000521903.1_Missense_Mutation_p.R110Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATTCTTGGTCGAAAAGACAT	0.343000													16	43					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12414216	12414216	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12414216C>T	ENST00000358136.3	+	47	9747	c.9617C>T	c.(9616-9618)aCg>aTg	p.T3206M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3181M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3205					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTAATGGGACGCTGAAACCT	0.438000													32	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399554	179399554	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179399554A>C	ENST00000589042.1	-	358	102012	c.101788T>G	c.(101788-101790)Tta>Gta	p.L33930V	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25057V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24990V|TTN_ENST00000342992.6_Missense_Mutation_p.L31362V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24865V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32289V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32289							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)			TGACTGTGTAAAAACTGAAGT	0.343000													16	40					0	0	1	0	0
COL6A2	0	broad.mit.edu	37	21	47536586	47536586	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47536586C>T	ENST00000300527.4	+	9	1053	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	COL6A2_ENST00000409416.1_Missense_Mutation_p.R317C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R317C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R317C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R317C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	317	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCGACGGTCGCAAGGTAGG	0.622000													15	31					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297270	207297270	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207297270T>G	ENST00000367070.3	+	5	626	c.432T>G	c.(430-432)ttT>ttG	p.F144L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	144	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTCAGATTTTTCTTAATTG	0.343000													8	7					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31714336	31714336	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31714336T>G	ENST00000320027.5	-	14	2309	c.1965A>C	c.(1963-1965)aaA>aaC	p.K655N	HSPH1_ENST00000445273.2_Missense_Mutation_p.K657N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K611N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K614N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K474N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	655					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CACATATAAATTTTTCATATG	0.328000													19	36					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479068	78479068	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78479068C>A	ENST00000370763.5	+	2	802	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	182					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGAAGATTTCTCGAAAAAGG	0.403000													27	52					3.73808e-20	5.11168e-20	1	1	0
KCNQ5	56479	broad.mit.edu	37	6	73834249	73834249	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:73834249C>A	ENST00000370392.1	+	9	1345	c.1261C>A	c.(1261-1263)Ctc>Atc	p.L421I	KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000370398.1_Intron			Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	0					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGTGATTTCTCTCTTGCTACA	0.363000													18	24					1.56452e-12	1.97515e-12	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105876450	105876450	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105876450C>T	ENST00000372548.4	+	6	1380	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	CXorf57_ENST00000372544.2_Missense_Mutation_p.S424L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	424										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTCAACATCGCAGCCAGAA	0.318000													20	44					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101679554	101679554	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101679554A>C	ENST00000261637.4	+	4	395	c.221A>C	c.(220-222)aAa>aCa	p.K74T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	74					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTATTGACAAATGCCAATCA	0.358000													19	46					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127236471	127236471	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127236471C>T	ENST00000265825.5	+	3	1150	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	FSCN3_ENST00000420086.2_Missense_Mutation_p.R177C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	311						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGCAGCTTCGTTCAGCCAA	0.522000													49	102					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477584	74477584	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74477584G>T	ENST00000394019.2	-	17	1936	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.F513L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F513L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F449L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	513						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCATCATAGAAGTCACTTG	0.532000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	146					3.30226e-22	4.58371e-22	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60348377	60348377	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:60348377G>A	ENST00000400324.4	-	27	3485	c.3265C>T	c.(3265-3267)Cgg>Tgg	p.R1089W	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1089W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1078W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1089W|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1019W|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1043W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1089					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGACTCTGCCGAACATCTGtt	0.323000													19	28					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179248854	179248854	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179248854C>A	ENST00000190611.4	+	18	2340	c.1964C>A	c.(1963-1965)aCt>aAt	p.T655N	OSBPL6_ENST00000409045.3_Missense_Mutation_p.T624N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T619N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T619N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T680N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T659N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	655					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTGGGGAGACTTATGAATGC	0.453000													98	215					1.35424e-50	1.96665e-50	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171511148	171511148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:171511148G>T	ENST00000367742.3	+	16	4785	c.4543G>T	c.(4543-4545)Gaa>Taa	p.E1515*	PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1515*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1513*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513							protein C-terminus binding										AGAGAGGGATGAAAAAAAAAA	0.388000													19	44					3.32936e-07	3.80431e-07	1	1	0
ZP2	7783	broad.mit.edu	37	16	21218215	21218215	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21218215C>A	ENST00000574002.1	-	6	909	c.427G>T	c.(427-429)Gta>Tta	p.V143L	ZP2_ENST00000219593.4_Missense_Mutation_p.V143L|ZP2_ENST00000574091.1_Missense_Mutation_p.V143L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	143					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTCTTCTACTTGCATAGCT	0.498000													36	82					2.09667e-21	2.89385e-21	1	1	0
IFIT5	24138	broad.mit.edu	37	10	91178049	91178049	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91178049C>A	ENST00000371795.4	+	2	1306	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	IFIT5_ENST00000416601.1_Missense_Mutation_p.L317I	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	365							binding			endometrium(1)|large_intestine(4)|lung(4)	9						CCGGAAAGCTCTTCGTCTGGA	0.458000													7	54					0.00198382	0.00207034	1	1	0
SIDT1	54847	broad.mit.edu	37	3	113327383	113327383	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113327383G>A	ENST00000264852.4	+	17	2446	c.1720_splice	c.e17+1	p.D574_splice	SIDT1_ENST00000393830.3_Splice_Site_p.D574_splice|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	574						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTTCCAATTCGGTAATTAGAA	0.423000													29	50					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59421459	59421459	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59421459C>A	ENST00000300146.9	-	9	1202	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	373	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACTTACCTTCTATTCTGTTG	0.388000													32	45					9.65021e-13	1.22324e-12	1	1	0
IL2RA	3559	broad.mit.edu	37	10	6063552	6063552	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:6063552C>T	ENST00000379959.3	-	4	645	c.472G>A	c.(472-474)Gct>Act	p.A158T	IL2RA_ENST00000256876.6_Missense_Mutation_p.A158T|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	158	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGTGTAGAGCCCTGTATCCC	0.527000													56	88					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239488	127239488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127239488C>T	ENST00000265825.5	+	5	1393	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R258*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	392						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.R392R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTGTATTGCGAGGTCGTTA	0.517000													4	87					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24911325	24911325	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911325A>G	ENST00000413389.2	+	6	2167	c.574A>G	c.(574-576)Ata>Gta	p.I192V	UPB1_ENST00000326010.5_Missense_Mutation_p.I260V			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	260	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTCGGCCACGATAGGAGCACT	0.612000													34	64					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130189741	130189741	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130189741G>T	ENST00000265379.6	+	39	7998	c.7504G>T	c.(7504-7506)Gat>Tat	p.D2502Y	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2502Y			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2502	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCCCACCGAAGATATGAAAGC	0.428000													10	17					1.33987e-11	1.67053e-11	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70885996	70885996	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70885996G>T	ENST00000333538.5	+	5	1501	c.867G>T	c.(865-867)gaG>gaT	p.E289D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGGTACGAGAACTCGGCCC	0.582000													55	118					7.34454e-26	1.03635e-25	1	1	0
CHD5	26038	broad.mit.edu	37	1	6190375	6190375	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6190375C>A	ENST00000262450.3	-	22	3375	c.3276G>T	c.(3274-3276)caG>caT	p.Q1092H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1092	Helicase C-terminal.				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)		AGCAGAACTGCTGGGCCCCGG	0.612000													22	39					3.8784e-16	5.13982e-16	1	1	0
PUS3	83480	broad.mit.edu	37	11	125763958	125763958	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:125763958T>C	ENST00000227474.3	-	4	1265	c.1168A>G	c.(1168-1170)Aat>Gat	p.N390D	PUS3_ENST00000530811.1_Missense_Mutation_p.N390D|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	390						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGCTTAACATTTCCCCATTCT	0.458000													25	53					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119306657	119306657	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119306657C>T	ENST00000478399.1	+	4	2411	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.R336W|ADPRH_ENST00000465513.1_Missense_Mutation_p.R336W|ADPRH_ENST00000357003.3_Missense_Mutation_p.R336W			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	336					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		ATACAGAAACCGGCTGGAAGA	0.448000													24	64					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177256	223177256	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223177256C>A	ENST00000284476.6	+	8	2681	c.2517C>A	c.(2515-2517)ttC>ttA	p.F839L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	839					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCAAACATTCTTTTACCAGA	0.453000													15	45					6.31663e-08	7.35827e-08	1	1	0
CD2AP	23607	broad.mit.edu	37	6	47547185	47547185	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47547185A>C	ENST00000359314.5	+	9	1424	c.968A>C	c.(967-969)aAt>aCt	p.N323T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	323	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.N323I(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCAGACAATTTTGCTGTC	0.348000													19	29					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164903	139164903	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164903G>T	ENST00000395297.1	-	13	1985	c.1815C>A	c.(1813-1815)atC>atA	p.I605I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	605										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)			TGTCTGAAGAGATGGCATTTT	0.453000										HNSCC(54;0.14)			5	131					0.014758	0.015099	1	1	0
POLI	11201	broad.mit.edu	37	18	51810358	51810358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51810358G>T	ENST00000579534.1	+	7	1185	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	POLI_ENST00000406285.3_Nonsense_Mutation_p.E269*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E245*|POLI_ENST00000217800.5_Nonsense_Mutation_p.E222*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	348					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TAAGATTGAAGAACTACTTGC	0.299000								DNA polymerases (catalytic subunits)					3	16					0.004672	0.00483628	1	1	0
INTS4	92105	broad.mit.edu	37	11	77692505	77692505	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77692505T>G	ENST00000534064.1	-	3	398	c.364_splice	c.e3+1	p.K122_splice	INTS4_ENST00000529807.1_Splice_Site_p.K122_splice	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	122					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGCAACTTACTTTCATTCTGC	0.328000													9	12					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7219540	7219540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7219540C>A	ENST00000399464.2	-	29	4606	c.4591G>T	c.(4591-4593)Gaa>Taa	p.E1531*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1529*|RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1507*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGAGGTTCTCCAAGGGCA	0.642000													19	50					1.33834e-09	1.61283e-09	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22662019	22662019	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22662019T>G	ENST00000426066.1	+	0	500					NR_027293.1																						GAATGTGGATTACTATGTACA	0.313000													9	15					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242066686	242066686	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242066686A>C	ENST00000403638.3	-	10	1735	c.1644T>G	c.(1642-1644)gaT>gaG	p.D548E	PASK_ENST00000544142.1_Missense_Mutation_p.D362E|PASK_ENST00000539818.1_Missense_Mutation_p.D332E|PASK_ENST00000234040.4_Missense_Mutation_p.D548E|PASK_ENST00000405260.1_Missense_Mutation_p.D548E|PASK_ENST00000358649.4_Missense_Mutation_p.D548E	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	548					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGCTTCAGAATCTTCGCAGG	0.572000													93	148					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275466	186275466	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186275466G>T	ENST00000445192.2	+	7	660	c.615G>T	c.(613-615)aaG>aaT	p.K205N	PRG4_ENST00000367483.4_Missense_Mutation_p.K164N|PRG4_ENST00000367485.4_Missense_Mutation_p.K112N|PRG4_ENST00000367484.3_Missense_Mutation_p.K164N|PRG4_ENST00000367486.3_Missense_Mutation_p.K162N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	205					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATAACAAGAAGAACAGAACTA	0.343000													49	97					2.56175e-15	3.37031e-15	1	1	0
SLC22A25	387601	broad.mit.edu	37	11	62996981	62996981	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62996981G>A	ENST00000306494.6	-	1	143	c.144C>T	c.(142-144)cgC>cgT	p.R48R	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	48					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAACCCAGCAGCGATGATCAA	0.463000													42	55					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320162	38320162	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38320162T>G	ENST00000379705.3	-	3	1666	c.809A>C	c.(808-810)aAt>aCt	p.N270T	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.N270T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.N270T|TRPC4_ENST00000447043.1_Missense_Mutation_p.N270T|TRPC4_ENST00000355779.2_Missense_Mutation_p.N270T|TRPC4_ENST00000426868.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379673.2_Missense_Mutation_p.N270T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	270	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCTCGGTAATTAAGAATGAT	0.413000													10	125					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318459	79318459	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79318459T>G	ENST00000428286.1	-	9	8193	c.6993A>C	c.(6991-6993)gaA>gaC	p.E2331D	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2690D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2690					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACCAGAGGCTTCCTCTAGTG	0.552000													31	43					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451046	105451046	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105451046C>A	ENST00000337685.2	+	5	2406	c.1621C>A	c.(1621-1623)Ctc>Atc	p.L541I	MUM1L1_ENST00000357175.2_Missense_Mutation_p.L541I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L541I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	541										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAAAAATTCTCCCTGACCG	0.473000													9	13					1.12685e-05	1.24509e-05	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20525762	20525762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20525762G>T	ENST00000504154.1	+	14	1652	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	SLIT2_ENST00000273739.5_Missense_Mutation_p.R471I|SLIT2_ENST00000503823.1_Missense_Mutation_p.R467I|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	467	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAACAAAAGAATTGGACAG	0.478000													45	124					5.78141e-17	7.72733e-17	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17611644	17611644	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17611644C>A	ENST00000381869.3	-	2	2146	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	MTUS1_ENST00000519263.1_Missense_Mutation_p.R558I|MTUS1_ENST00000262102.6_Missense_Mutation_p.R558I|MTUS1_ENST00000381862.3_Missense_Mutation_p.R558I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	558						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAAGTCAGATCTCGGTGTTCT	0.428000													62	136					1.88225e-35	2.70619e-35	1	1	0
DGKK	139189	broad.mit.edu	37	X	50129446	50129446	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50129446C>A	ENST00000376025.2	-	0	2316							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTATGTGGTCTATTTGAGGA	0.473000													19	38					1.00905e-13	1.29777e-13	1	1	0
ARG1	383	broad.mit.edu	37	6	131904520	131904520	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131904520T>G	ENST00000368087.3	+	7	830	c.691T>G	c.(691-693)Ttt>Gtt	p.F231V	MED23_ENST00000354577.4_Intron|ARG1_ENST00000476845.1_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F239V			P05089	ARGI1_HUMAN	arginase 1	231					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCATCTAAGTTTTGATGTTGA	0.403000													32	67					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98825776	98825776	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98825776T>G	ENST00000266058.4	-	5	726	c.481A>C	c.(481-483)Aat>Cat	p.N161H	SLIT1_ENST00000371070.4_Missense_Mutation_p.N161H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.N161H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	161					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTCACAAATTTTTAAGGTCC	0.587000													4	5					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186055441	186055441	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186055441C>A	ENST00000271588.4	+	58	9177	c.8948C>A	c.(8947-8949)tCt>tAt	p.S2983Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2983Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2983	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATTTCATCTCTTTGACCTGT	0.413000													18	29					1.99824e-07	2.29918e-07	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103898913	103898913	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103898913G>T	ENST00000278070.2	+	5	687	c.648G>T	c.(646-648)gaG>gaT	p.E216D	PPRC1_ENST00000413464.2_Missense_Mutation_p.E216D	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTTTCTTAGAGACCTCTTCCC	0.552000													7	100					0.00307968	0.00320271	1	1	0
LETM2	137994	broad.mit.edu	37	8	38257891	38257891	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38257891C>T	ENST00000379957.4	+	5	874	c.747C>T	c.(745-747)ggC>ggT	p.G249G	LETM2_ENST00000527710.1_Silent_p.G35G|LETM2_ENST00000297720.5_Silent_p.G154G|LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000523983.2_Silent_p.G202G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	249	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCAAGATGGGCGATGCCTCTA	0.438000													27	36					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264564	37264564	+	Silent	SNP	C	C	T	rs148167670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37264564C>T	ENST00000310758.4	-	9	1268	c.621G>A	c.(619-621)tcG>tcA	p.S207S	ELMO1_ENST00000442504.1_Silent_p.S207S|ELMO1_ENST00000448602.1_Silent_p.S207S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	207					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S207S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGAGCACCATCGACTCCAAAA	0.502000													21	41					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701692	143701692	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143701692C>A	ENST00000408922.2	+	1	671	c.603C>A	c.(601-603)atC>atA	p.I201I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TAGACTTTATCCTGGCACTGG	0.458000													25	92					1.55469e-16	2.07108e-16	1	1	0
FPGT-TNNI3K	0	broad.mit.edu	37	1	74835209	74835209	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74835209C>T	ENST00000370895.1	+	18	1945	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	TNNI3K_ENST00000326637.3_Missense_Mutation_p.A536V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A637V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A637V|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A637V			Q59H18	TNI3K_HUMAN		536	Protein kinase.		T -> M (in dbSNP:rs2274260).			cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AGCCAGTTTGCCATTGTCACT	0.468000													27	62					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31077225	31077225	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31077225C>T	ENST00000206595.6	+	12	1604	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	G2E3_ENST00000553504.1_Missense_Mutation_p.P514S|G2E3_ENST00000438909.2_Missense_Mutation_p.P438S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	484	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATACCCAGCCAATTTTAGA	0.363000													4	64					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34270072	34270072	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34270072C>T	ENST00000346562.2	+	11	2537	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000357798.5_Silent_p.F840F|NPAS3_ENST00000356141.4_Silent_p.F853F|NPAS3_ENST00000548645.1_Silent_p.F823F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGTTAACTTCGTGGACGTTA	0.647000													11	9					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151374	105151374	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105151374G>T	ENST00000303694.5	+	3	1291	c.852G>T	c.(850-852)gaG>gaT	p.E284D	CHST11_ENST00000549260.1_Missense_Mutation_p.E279D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	284					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACTGGAAGAGGATTCTAATT	0.517000													21	28					1.00905e-13	1.29777e-13	1	1	0
NIN	51199	broad.mit.edu	37	14	51210967	51210967	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51210967G>A	ENST00000245441.5	-	23	5371	c.5181C>T	c.(5179-5181)gtC>gtT	p.V1727V	NIN_ENST00000389868.3_Silent_p.V1014V|NIN_ENST00000324330.9_Silent_p.V1727V|NIN_ENST00000530997.2_Silent_p.V1727V|NIN_ENST00000382043.4_Silent_p.V1014V|NIN_ENST00000453196.1_Silent_p.V1727V|NIN_ENST00000382041.3_Silent_p.V1727V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1727					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTACCTTATCGACACAGCTAT	0.408000			T	PDGFRB	MPD								25	55					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255384	50255384	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50255384C>T	ENST00000420502.1	+	0	1044							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTTCGCCTTCGTCTGCCACC	0.617000													12	37					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184724	72184724	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72184724A>C	ENST00000537465.1	-	5	577	c.419T>G	c.(418-420)aTt>aGt	p.I140S	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.I140S			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	140										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCATAGAGAATCACCTGTAG	0.498000													30	38					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704898	101704898	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101704898C>T	ENST00000305352.6	+	2	733	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	120					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGGTTTCTGCGGGAAGGGAG	0.552000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	53					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995860	8995860	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8995860G>A	ENST00000299698.7	+	12	1559	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	304						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGCTAAACGGCCCCTTGAAA	0.552000													38	71					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031002	56031002	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031002C>T	ENST00000309675.2	+	1	359	c.327C>T	c.(325-327)ggC>ggT	p.G109G		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGTCCTGGGCATCTCGGAGT	0.617000													19	40					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153581372	153581372	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153581372C>T	ENST00000422373.1	-	37	6447	c.6199G>A	c.(6199-6201)Gca>Aca	p.A2067T	FLNA_ENST00000360319.4_Missense_Mutation_p.A2067T|FLNA_ENST00000369850.3_Missense_Mutation_p.A2075T|FLNA_ENST00000344736.4_Missense_Mutation_p.A2035T|FLNA_ENST00000369856.3_Missense_Mutation_p.A208T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2075					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCTACCTGCATCGCGGGTA	0.602000													7	51					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584447	1584447	+	Silent	SNP	G	G	A	rs144046178	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1584447G>A	ENST00000381297.4	-	2	1215	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	335						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCGGCCTCGGAGCGCACGG	0.701000			T	CRLF2	"""B-ALL, Downs associated ALL"""								25	66					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177030254	177030254	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:177030254G>A	ENST00000367654.2	-	2	444	c.431C>T	c.(430-432)tCg>tTg	p.S144L	ASTN1_ENST00000361833.2_Missense_Mutation_p.S144L|ASTN1_ENST00000367657.3_Missense_Mutation_p.S144L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S144L			O14525	ASTN1_HUMAN	astrotactin 1	144					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTTCTGCCGACTCATGTTG	0.507000													47	88					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33092154	33092154	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33092154A>C	ENST00000374864.4	+	24	2648	c.2435A>C	c.(2434-2436)aAa>aCa	p.K812T	ITCH_ENST00000535650.1_Missense_Mutation_p.K702T|ITCH_ENST00000262650.6_Missense_Mutation_p.K853T	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	853	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGACCACAGAAATTCTGCATT	0.378000													10	25					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50923743	50923743	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50923743C>A	ENST00000442544.2	+	18	3370	c.2754C>A	c.(2752-2754)ttC>ttA	p.F918L	DCC_ENST00000581580.1_Missense_Mutation_p.F553L|DCC_ENST00000412726.1_Missense_Mutation_p.F746L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	918	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.F918L(1)		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)		TGTATGAATTCTCGGTCATGG	0.403000													15	35					7.93312e-07	8.98086e-07	1	1	0
ERG	2078	broad.mit.edu	37	21	39775498	39775498	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:39775498G>A	ENST00000442448.1	-	6	814	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ERG_ENST00000417133.2_Silent_p.D181D|ERG_ENST00000398897.1_Silent_p.D82D|ERG_ENST00000398919.2_Silent_p.D181D|ERG_ENST00000453032.2_Silent_p.D82D|ERG_ENST00000288319.7_Silent_p.D174D|ERG_ENST00000398905.1_Silent_p.D174D|ERG_ENST00000429727.2_Intron|ERG_ENST00000398907.1_Silent_p.D174D|ERG_ENST00000398910.1_Silent_p.D181D|ERG_ENST00000398911.1_Silent_p.D181D	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	181	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TCTGGAAGTCGTCCTTGGTCA	0.522000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								31	52					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174488	92174488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92174488G>A	ENST00000256343.3	-	6	619	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	155					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R155*(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTTACCTCGAATAACATCC	0.353000													4	37					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64751318	64751318	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64751318C>T	ENST00000374811.3	-	4	473	c.432_splice	c.e4-1	p.V145_splice	LAS1L_ENST00000374807.5_Splice_Site_p.V145_splice|LAS1L_ENST00000374804.5_Splice_Site_p.V103_splice|LAS1L_ENST00000312391.8_Splice_Site_p.V145_splice	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	145						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGAATATTTACCTGATTACAG	0.443000													9	96					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84403608	84403608	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84403608C>T	ENST00000260505.8	-	8	1192	c.815G>A	c.(814-816)cGt>cAt	p.R272H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	272	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTGATGGAACGTTTGCTGCC	0.368000													8	86					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37581896	37581896	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37581896G>T	ENST00000337995.3	+	4	224		c.e4-1		ZNF420_ENST00000304239.7_Splice_Site	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTGTTTCAGAAATTAGTGA	0.353000													20	34					2.39187e-15	3.14903e-15	1	1	0
TAOK2	9344	broad.mit.edu	37	16	30002147	30002147	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30002147C>T	ENST00000279394.3	+	18	2891	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	709	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCAGGCCCTTCGGCAGCAGCT	0.602000													50	79					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31194488	31194488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31194488C>T	ENST00000373765.4	-	2	240	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	69	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCGACTCGATGACCTGG	0.602000													47	102					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAACTTTCGCTTGTAAAGA	0.398000													39	59					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379463	19379463	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19379463C>T	ENST00000338883.4	-	28	3850	c.3851G>A	c.(3850-3852)cGa>cAa	p.R1284Q	PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1116Q|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R719Q|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1284							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTACCGTAGTCGAAGGTATCT	0.393000													10	22					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128605632	128605632	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128605632C>A	ENST00000335251.5	+	7	1353	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	417										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATGTATGGTTCTTTAGATAGG	0.303000													8	10					5.4927e-09	6.54492e-09	1	1	0
SCEL	8796	broad.mit.edu	37	13	78130826	78130826	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78130826A>C	ENST00000535157.1	+	3	309	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	SCEL_ENST00000377246.3_Missense_Mutation_p.K47Q|SCEL_ENST00000349847.3_Missense_Mutation_p.K47Q	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	47					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAGTTGGATAAAGAAACGCCC	0.468000													16	126					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813109	24813109	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:24813109C>T	ENST00000221169.5	-	0	1515							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GACGACGGCTCTCGGACACCT	0.622000													21	34					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27041840	27041840	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27041840G>A	ENST00000395245.3	-	9	1309	c.683C>T	c.(682-684)tCg>tTg	p.S228L	RAB34_ENST00000301043.6_Missense_Mutation_p.S228L|RAB34_ENST00000395242.2_Missense_Mutation_p.S229L|RAB34_ENST00000450529.1_Missense_Mutation_p.S220L|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000436730.3_Missense_Mutation_p.S228L|RAB34_ENST00000395243.3_Missense_Mutation_p.S220L|RAB34_ENST00000447716.1_Missense_Mutation_p.S285L|RAB34_ENST00000415040.2_Missense_Mutation_p.S206L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	228					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCGAGCCCCCGATTTCTCCAG	0.547000													25	58					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16108405	16108405	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:16108405A>G	ENST00000399408.2	+	4	584	c.409A>G	c.(409-411)Atc>Gtc	p.I137V	ABCC1_ENST00000346370.5_Missense_Mutation_p.I137V|ABCC1_ENST00000399410.3_Missense_Mutation_p.I137V|ABCC1_ENST00000351154.5_Missense_Mutation_p.I137V|ABCC1_ENST00000349029.5_Missense_Mutation_p.I137V|ABCC1_ENST00000345148.5_Missense_Mutation_p.I137V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	137					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTTCAGGGATCATGCTCAC	0.473000													15	35					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								54	88					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112693688	112693688	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112693688C>A	ENST00000471858.1	-	1	249	c.17G>T	c.(16-18)aGa>aTa	p.R6I	CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I|CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	6					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.R6I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTAGCAGTTCTCCAAGGGCA	0.468000													16	25					1.33834e-09	1.61283e-09	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36133883	36133883	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36133883G>A	ENST00000258840.6	-	27	4306	c.3916C>T	c.(3916-3918)Cct>Tct	p.P1306S	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1259S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1272S|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1259S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1259					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAACATCAGGAATGTTGGGA	0.348000													10	23					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182848417	182848417	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182848417G>A	ENST00000367549.3	+	21	2494	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	795	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGATGTTCCGAACACCATTG	0.398000													22	65					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100366245	100366245	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100366245A>G	ENST00000542585.1	+	0	5202				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_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)			AACTACAACAACAACAGCTTG	0.592000													8	14					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85677427	85677427	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85677427C>T	ENST00000316824.3	+	2	459	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	102					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGTAACAGTCTCCGAATGTC	0.468000													30	59					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160307	38160307	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38160307T>G	ENST00000379747.4	-	7	981	c.864A>C	c.(862-864)gaA>gaC	p.E288D	POSTN_ENST00000541481.1_Missense_Mutation_p.E288D|POSTN_ENST00000541179.1_Missense_Mutation_p.E288D|POSTN_ENST00000379743.4_Missense_Mutation_p.E288D|POSTN_ENST00000379749.4_Missense_Mutation_p.E288D|POSTN_ENST00000379742.4_Missense_Mutation_p.E288D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	288	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCATGATCCTTTCTAGGACAC	0.468000													30	31					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86544588	86544588	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:86544588G>A	ENST00000262426.4	+	1	456	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	138					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCTCCTTTCGGCGGCGGCCG	0.647000													63	117					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601497	138601497	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138601497T>G	ENST00000440172.1	-	2	2923	c.2875A>C	c.(2875-2877)Act>Cct	p.T959P	KIAA1549_ENST00000242365.4_Missense_Mutation_p.T909P|KIAA1549_ENST00000422774.1_Missense_Mutation_p.T959P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	959						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCTTACCAGTTGTGATCAGA	0.537000			O	BRAF	pilocytic astrocytoma								8	26					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54327368	54327368	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54327368C>T	ENST00000324134.6	-	1	229	c.61G>A	c.(61-63)Gag>Aag	p.E21K	NLRP12_ENST00000354278.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E21K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E21K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E21K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E21K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	21	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCACAGCCTCGAGTTCTTCC	0.612000													31	40					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8667888	8667888	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8667888T>G	ENST00000299665.2	+	2	278	c.85T>G	c.(85-87)Tta>Gta	p.L29V		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	29					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGTTTTCATCTTACTTCTCAG	0.373000													4	58					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170438	58170438	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170438A>C	ENST00000309403.2	-	1	444	c.445T>G	c.(445-447)Tgt>Ggt	p.C149G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	149					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)				AGGAAACCACAGAGGTAGGAG	0.478000													41	72					0	0	1	0	0
SDAD1P1	0	broad.mit.edu	37	8	26238477	26238477	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26238477T>G	ENST00000519902.1	-	0	1471																											ACATGAAATTTTACAATACTA	0.338000													15	21					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13482541	13482541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13482541G>A	ENST00000360228.5	-	4	591	c.592C>T	c.(592-594)Cga>Tga	p.R198*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R198*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	198					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCAGCACTCGAACTGCCCTC	0.582000													4	11					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85774639	85774639	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:85774639C>T	ENST00000521268.1	+	6	1627	c.522C>T	c.(520-522)tcC>tcT	p.S174S	RALYL_ENST00000522455.1_Silent_p.S174S|RALYL_ENST00000523850.1_Silent_p.S101S|RALYL_ENST00000518566.1_Silent_p.S163S|RALYL_ENST00000517638.1_Silent_p.S187S|RALYL_ENST00000521376.1_Silent_p.S85S|RALYL_ENST00000521695.1_Silent_p.S174S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	174							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGTCTTTTCCATGAAAGGTG	0.483000													13	21					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986322	51986322	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51986322T>C	ENST00000396477.4	+	4	746	c.725T>C	c.(724-726)aTt>aCt	p.I242T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I303T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	303						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCAACGGCATTGTGACAGCT	0.537000													24	175					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1778571	1778571	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1778571G>T	ENST00000236671.2	-	5	819	c.687C>A	c.(685-687)ttC>ttA	p.F229L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S100Y	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	229			F -> I (in CLN10).		cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTAGAAGGAGAAGATGTTCT	0.637000													13	29					4.3838e-07	4.998e-07	1	1	0
KDR	3791	broad.mit.edu	37	4	55968605	55968605	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55968605G>T	ENST00000263923.4	-	14	2353	c.2058C>A	c.(2056-2058)gtC>gtA	p.V686V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	686	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGCATGAGACTTCGATGC	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			28	64					9.22233e-05	9.98021e-05	1	1	0
LRP6	4040	broad.mit.edu	37	12	12317334	12317334	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12317334A>C	ENST00000261349.4	-	9	2001	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	LRP6_ENST00000543091.1_Missense_Mutation_p.I642S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	642	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCGTCTGATATCTGCTCT	0.443000													21	45					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62995813	62995813	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:62995813T>C	ENST00000281156.4	-	1	319	c.41A>G	c.(40-42)aAa>aGa	p.K14R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAGGCTATCTTTCTCTGCCAT	0.587000													12	28					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849234	72849234	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72849234C>T	ENST00000344575.3	+	1	1126	c.897C>T	c.(895-897)ggC>ggT	p.G299G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	299					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGAGGCGGGCGCGCTCTACG	0.637000													50	83					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139620199	139620199	+	Missense_Mutation	SNP	G	G	A	rs149644599		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139620199G>A	ENST00000303045.6	-	57	4458	c.4012C>T	c.(4012-4014)Cct>Tct	p.P1338S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1318S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1338	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAAGGGCCAGGCTCTCCTGGA	0.527000										HNSCC(7;0.00092)			10	34					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34182689	34182689	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34182689G>A	ENST00000311880.2	-	14	1492	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	C17orf66_ENST00000592980.1_Silent_p.N408N	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	448							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CAGCCTGGTGGTTTTCTGCAT	0.527000													30	67					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129698	3129698	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3129698A>G	ENST00000380266.3	-	2	340	c.19T>C	c.(19-21)Tca>Cca	p.S7P	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	7					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGTTTTAATGACTTGAGAGTA	0.453000													16	24					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944166	41944166	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41944166A>G	ENST00000221943.9	-	2	177	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	ATP5SL_ENST00000592922.2_Missense_Mutation_p.Y58H|ATP5SL_ENST00000590641.2_Missense_Mutation_p.Y64H|ATP5SL_ENST00000589970.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000438807.3_Missense_Mutation_p.Y58H|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Y64H|ATP5SL_ENST00000597457.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000301183.11_Missense_Mutation_p.Y64H	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	58										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TGGAGCAAGTAATCCCTCAGA	0.537000													4	122					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593429	11593429	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11593429G>T	ENST00000262442.3	+	20	4358	c.4290G>T	c.(4288-4290)gaG>gaT	p.E1430D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1430D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1430	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)		CTGCAAAAGAGATGGGTATGG	0.562000													19	38					7.07596e-05	7.68259e-05	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861062	55861062	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55861062C>A	ENST00000302124.2	+	1	310	c.279C>A	c.(277-279)tcC>tcA	p.S93S	OR8I2_ENST00000560768.1_Silent_p.S93S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATCCATCTCCTTTGTTGGCT	0.388000													53	67					9.86064e-34	1.41589e-33	1	1	0
CPA3	1359	broad.mit.edu	37	3	148583119	148583119	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148583119T>G	ENST00000296046.3	+	1	77	c.25T>G	c.(25-27)Ttg>Gtg	p.L9V	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	9					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCTGTGGGTTTGATTGCTAC	0.468000													15	54					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31828138	31828138	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31828138A>C	ENST00000543095.2	-	15	2381	c.2197T>G	c.(2197-2199)Ttc>Gtc	p.F733V	HEATR5A_ENST00000439348.1_Missense_Mutation_p.F727V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.F440V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.F727V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.F733V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	727							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTTGTAGGAAAGGACTTAGT	0.393000													15	33					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53904164	53904164	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53904164C>T	ENST00000335754.3	-	12	1676	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	ACTR8_ENST00000482349.1_Missense_Mutation_p.D415N|ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000231909.7_Missense_Mutation_p.D231N	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	526					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTTTTGGTGTCGTCAGATGCT	0.428000													20	47					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802555	67802555	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802555A>C	ENST00000544246.1	-	2	709	c.18T>G	c.(16-18)ttT>ttG	p.F6L	PCDH9_ENST00000377861.3_Missense_Mutation_p.F6L|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6L|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6L|PCDH9_ENST00000377865.2_Missense_Mutation_p.F6L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	6					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCAACAGGTAAAAATCCCTCA	0.398000													5	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168114449	168114449	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168114449G>T	ENST00000409728.1	+	11	1581	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.D498Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.D243Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D465Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D465Y|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						AGGAAATTATGATGAAGGTTT	0.328000													26	30					3.28513e-13	4.19729e-13	1	1	0
ZNF256	10172	broad.mit.edu	37	19	58452990	58452990	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58452990T>C	ENST00000282308.3	-	3	1382	c.1186A>G	c.(1186-1188)Aaa>Gaa	p.K396E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	396					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTCCGGTGTTTAATGAGGTGA	0.428000													30	41					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23743807	23743807	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23743807A>T	ENST00000450454.2	-	4	421	c.315T>A	c.(313-315)tgT>tgA	p.C105*	TCEA3_ENST00000461794.1_Nonsense_Mutation_p.C68*|TCEA3_ENST00000374601.3_Nonsense_Mutation_p.C105*	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	105					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCAGTCTGAACACTCAAGcc	0.473000													8	70					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059822	248059822	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059822G>A	ENST00000537741.1	+	3	1191	c.934G>A	c.(934-936)Gga>Aga	p.G312R	OR2W3_ENST00000360358.3_Missense_Mutation_p.G312R			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAGAGCTAGGAAAGGAGTA	0.542000													9	25					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197008508	197008508	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197008508C>A	ENST00000367412.1	-	12	2029	c.1986G>T	c.(1984-1986)taG>taT	p.*662Y		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	0					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						CCATTCATTTCTATGTTCTTA	0.313000													10	123					2.80697e-09	3.36108e-09	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112461939	112461939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112461939G>A	ENST00000297145.4	-	5	1243	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	360										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						atatctGATCGAACATAGCAG	0.398000													9	32					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494128	134494128	+	Silent	SNP	C	C	T	rs144200813		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494128C>T	ENST00000339249.4	+	5	824	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	228					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTGAGATCGGGATAGAAA	0.363000													22	36					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179564769	179564769	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179564769T>A	ENST00000444136.1	+	4	897	c.647T>A	c.(646-648)aTt>aAt	p.I216N	TDRD5_ENST00000367614.1_Missense_Mutation_p.I216N|TDRD5_ENST00000294848.8_Missense_Mutation_p.I216N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	216	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGGTAAAATTTTTACCCAG	0.408000													8	34					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7192940	7192940	+	Missense_Mutation	SNP	C	C	T	rs142210139		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7192940C>T	ENST00000007699.5	-	7	1016	c.953G>A	c.(952-954)cGc>cAc	p.R318H		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	318	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GTTTCGTGGGCGCTGGGGCTC	0.721000													15	32					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36488328	36488328	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36488328G>A	ENST00000405275.2	+	15	1582	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D287N|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D222N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D474N			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	474					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATCATCGACAATGACAC	0.517000													14	21					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982521	57982521	+	Missense_Mutation	SNP	G	G	A	rs148202922		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982521G>A	ENST00000309433.6	+	1	305	c.305G>A	c.(304-306)aGt>aAt	p.S102N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAAACCAAGAGTCAATCCATC	0.428000													65	105					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74127971	74127971	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74127971G>A	ENST00000398761.4	-	14	1551	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	MICU1_ENST00000401998.3_Silent_p.F471F|MICU1_ENST00000398763.4_Silent_p.F273F|MICU1_ENST00000361114.5_Silent_p.F471F|MICU1_ENST00000418483.2_Silent_p.F273F			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	471					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TGGGTAAAGCGAAGTCCCAGG	0.587000													12	21					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875278	247875278	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875278G>A	ENST00000302084.2	-	1	827	c.780C>T	c.(778-780)gtC>gtT	p.V260V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGAGGTGCGGACGTGAAGGA	0.527000													6	92					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097646	11097646	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11097646C>A	ENST00000470054.1	-	0	223									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)		gccagaaaaacctacaatagG	0.577000													5	68					0.00116845	0.00122532	1	1	0
ZNF614	80110	broad.mit.edu	37	19	52519497	52519497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52519497C>A	ENST00000270649.6	-	5	1898	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGGTTTTTCTCCTGTATGA	0.403000													43	75					2.19962e-31	3.1472e-31	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219900213	219900213	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219900213C>A	ENST00000341552.5	-	5	614	c.531G>T	c.(529-531)aaG>aaT	p.K177N	CCDC108_ENST00000295729.2_Missense_Mutation_p.K112N|CCDC108_ENST00000324264.6_Missense_Mutation_p.K112N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K166N|CCDC108_ENST00000441968.1_Missense_Mutation_p.K177N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K112N|CCDC108_ENST00000453220.1_Missense_Mutation_p.K177N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	177						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTACTTCATCTTCTGGAGTT	0.468000													27	52					4.7796e-09	5.70246e-09	1	1	0
FAT4	79633	broad.mit.edu	37	4	126239028	126239028	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126239028G>A	ENST00000394329.3	+	1	1475	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	488	Cadherin 5.				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						GAGCGAGGAGGCGCCTCCGGG	0.512000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	29					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100922293	100922293	+	Missense_Mutation	SNP	C	C	T	rs149186732	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:100922293C>T	ENST00000325455.5	-	5	3672	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	PGR_ENST00000534013.1_Missense_Mutation_p.R146Q|PGR_ENST00000263463.5_Missense_Mutation_p.R638Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R740Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ATGTAAGTTTCGAAAACCTAC	0.328000													17	28					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55561832	55561832	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55561832G>A	ENST00000288135.5	+	2	319	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	74	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.T74T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGATGAAACGAATGAGAATA	0.458000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				26	35					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526222	70526222	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:70526222A>G	ENST00000327305.6	-	4	965	c.308T>C	c.(307-309)gTt>gCt	p.V103A	NETO1_ENST00000299430.2_Missense_Mutation_p.V102A|NETO1_ENST00000583169.1_Missense_Mutation_p.V103A|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.V102A	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	103	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCATCTCGAACTTCAATATG	0.378000													16	20					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170374884	170374884	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170374884A>G	ENST00000284669.1	+	4	1638	c.1562_splice	c.e4+1	p.K521_splice	RP11-724O16.1_ENST00000513963.1_Splice_Site_p.K459_splice|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Splice_Site_p.K459_splice	NM_006063.2	NP_006054.2			kelch-like family member 41																		TACAACAAATAAGTGAGTTGC	0.363000													4	24					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035789	141035789	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141035789T>C	ENST00000239440.4	-	28	3909	c.3844A>G	c.(3844-3846)Atc>Gtc	p.I1282V	ARAP3_ENST00000513878.1_Missense_Mutation_p.I944V|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.I1113V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1282	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCTTGCGGATTCCCAGGTAG	0.557000													52	80					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947053	40947053	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40947053T>C	ENST00000246914.5	+	14	2635	c.2614T>C	c.(2614-2616)Ttt>Ctt	p.F872L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	872					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CACACCCGAGTTTCCGGTCCC	0.567000													55	82					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318227	40318227	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40318227C>T	ENST00000593685.1	-	7	1345	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	DYRK1B_ENST00000430012.2_Missense_Mutation_p.A293T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A293T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A293T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A293T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	293	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATGTCAATGGCCAGGTCGTAG	0.592000													20	62					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123087284	123087284	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123087284C>A	ENST00000333479.7	+	46	4999	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.L33I|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1608					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGGAAAATTCTCTGTATGTG	0.358000													11	28					3.86212e-05	4.21111e-05	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681139	55681139	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55681139T>G	ENST00000344514.1	-	1	919	c.920A>C	c.(919-921)aAa>aCa	p.K307T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						aaataaaattttatttttCAG	0.303000													8	19					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71640268	71640268	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71640268G>A	ENST00000356340.3	+	5	981	c.445G>A	c.(445-447)Gga>Aga	p.G149R	COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398973.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G137R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G149R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398978.3_Missense_Mutation_p.G149R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G149R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398964.3_Intron			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	149	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.G149R(2)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGGGTCCCCCGGAGACGCTGG	0.622000													11	29					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42392102	42392102	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42392102G>T	ENST00000426726.3	+	5	732		c.e5-1		AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Splice_Site|RUNDC3A_ENST00000590941.1_Splice_Site	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A						small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTCCCCACAGACGGTTCTAT	0.632000													16	21					1.99824e-07	2.29918e-07	1	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44021614	44021614	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44021614C>T	ENST00000260605.8	+	6	439	c.339C>T	c.(337-339)ctC>ctT	p.L113L	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000406852.3_Silent_p.L113L|DYNC2LI1_ENST00000605786.1_Silent_p.L113L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	113						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCTTGTTCTCGTTCTGGATC	0.333000													8	23					0	0	1	0	0
NXF2B	728343	broad.mit.edu	37	X	101623766	101623766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101623766G>T	ENST00000457521.2	-	19	2467	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	NXF2B_ENST00000372749.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372750.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372752.1_Missense_Mutation_p.S111Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.S199Y					nuclear RNA export factor 2B											breast(1)|kidney(1)|lung(4)|ovary(1)	7						GGGCGCAGTAGAATGATTGAC	0.488000													12	62					1.06801e-11	1.33247e-11	1	1	0
KANK4	163782	broad.mit.edu	37	1	62703978	62703978	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62703978C>A	ENST00000371153.4	-	10	3337	c.2959G>T	c.(2959-2961)Gcg>Tcg	p.A987S	KANK4_ENST00000317477.4_Missense_Mutation_p.A125S|KANK4_ENST00000371150.1_Missense_Mutation_p.A343S|KANK4_ENST00000354381.3_Missense_Mutation_p.A359S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).							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						CCCTGCTCCGCGTGGGCTCTC	0.577000													21	31					7.41877e-09	8.8016e-09	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62306143	62306143	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62306143T>G	ENST00000261517.5	-	10	806	c.733A>C	c.(733-735)Att>Ctt	p.I245L	VPS13C_ENST00000395896.4_Missense_Mutation_p.I245L|VPS13C_ENST00000395898.3_Missense_Mutation_p.I202L|VPS13C_ENST00000249837.3_Missense_Mutation_p.I202L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	245					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTATATAATTTTGTCTGCT	0.318000													13	25					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87035618	87035618	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87035618C>T	ENST00000265723.4	-	26	3604	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E1111K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1111K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1158K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1158K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1165	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGTAACGTCTCGATGAAAGGA	0.423000													7	66					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44673090	44673090	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44673090T>G	ENST00000299957.6	+	8	1287	c.988T>G	c.(988-990)Ttg>Gtg	p.L330V	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.L330V	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	330						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AGGCTCAAACTTGGACAGTGA	0.393000													14	35					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49432215	49432215	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49432215C>T	ENST00000301067.7	-	34	8923	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGATTGGGGCGGCCAAGCTC	0.582000													13	90					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78398005	78398005	+	Missense_Mutation	SNP	G	G	A	rs141847250	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:78398005G>A	ENST00000238561.5	+	10	1450	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A383T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	458	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCGCGCCAGCGCCAGCTCCTT	0.647000													14	32					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862683	43862683	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43862683T>G	ENST00000319294.6	+	12	1639	c.1608T>G	c.(1606-1608)aaT>aaG	p.N536K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.N498K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N498K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	536	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AAGAGGCAAATTTCAACATTG	0.413000													32	52					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33346944	33346944	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33346944T>C	ENST00000270112.2	+	7	1448	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	363					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						AGCGACGTGATCAACACTGTG	0.542000													16	92					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700186	77700186	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77700186C>A	ENST00000296043.6	+	11	6800	c.5847C>A	c.(5845-5847)gtC>gtA	p.V1949V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1949	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGGAGCAGGTCAAGTGTCTGC	0.582000													44	93					2.01872e-29	2.87446e-29	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20043155	20043155	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20043155C>T	ENST00000379651.3	-	9	1221	c.1203G>A	c.(1201-1203)gcG>gcA	p.A401A	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Silent_p.A286A|MAP7D2_ENST00000452324.3_Silent_p.A349A|MAP7D2_ENST00000443379.3_Silent_p.A356A|MAP7D2_ENST00000379643.5_Silent_p.A442A	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	401										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCAAGATCTTCGCAGCCTCTC	0.522000													52	93					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101084433	101084433	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101084433T>G	ENST00000360863.6	-	5	559	c.365A>C	c.(364-366)aAg>aCg	p.K122T	RGS22_ENST00000523437.1_Missense_Mutation_p.K122T|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	122					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTGATCCACTTAATACCTTC	0.318000													7	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604701	179604701	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179604701C>A	ENST00000589042.1	-	48	13483	c.13259G>T	c.(13258-13260)aGa>aTa	p.R4420I	TTN_ENST00000342175.6_Missense_Mutation_p.R4249I|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4103I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4103	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4249I(1)|p.R4182I(1)|p.R4057I(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)			TTCAATATTTCTTAGCCACTC	0.473000													34	47					9.17885e-22	1.27125e-21	1	1	0
SUSD2	56241	broad.mit.edu	37	22	24579121	24579121	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24579121T>G	ENST00000358321.3	+	2	434	c.173T>G	c.(172-174)tTc>tGc	p.F58C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	58	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGCTTGGATTTCCGGGACTTC	0.617000													21	112					0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65295412	65295412	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65295412T>C	ENST00000220058.4	-	9	1171	c.1158A>G	c.(1156-1158)caA>caG	p.Q386Q		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	386						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ACTCAATGCATTGTTGCATAG	0.323000													6	27					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941517	98941517	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:98941517A>C	ENST00000556029.1	+	9	1602	c.1246A>C	c.(1246-1248)Aaa>Caa	p.K416Q	TMPO_ENST00000393053.2_Missense_Mutation_p.K307Q|TMPO_ENST00000343315.5_Missense_Mutation_p.K376Q|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	416						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTATGGATAAAAATTTTGCT	0.368000													29	47					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165867	151165867	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151165867C>A	ENST00000282466.3	-	4	1901	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	634	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGGGGTGACCTGTAATATTC	0.408000													18	51					6.94344e-10	8.4399e-10	1	1	0
FERMT1	55612	broad.mit.edu	37	20	6057898	6057898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6057898G>T	ENST00000217289.4	-	15	2744	c.1956C>A	c.(1954-1956)ttC>ttA	p.F652L	FERMT1_ENST00000536936.1_Missense_Mutation_p.F395L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	652	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGGTGGACAAGAAAATGTAGC	0.507000											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	47					1.2644e-06	1.4261e-06	1	1	0
LRP2	4036	broad.mit.edu	37	2	170094769	170094769	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170094769A>C	ENST00000263816.3	-	27	4623	c.4338T>G	c.(4336-4338)atT>atG	p.I1446M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1446					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)	TGTCGGCAATAATTTTGTTCT	0.383000													11	26					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171830294	171830294	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:171830294G>A	ENST00000336824.4	+	2	124	c.25G>A	c.(25-27)Gac>Aac	p.D9N	FNDC3B_ENST00000392699.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D9N|FNDC3B_ENST00000421757.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000423424.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D9N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	9						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGATGACCGACCAAATCCC	0.493000													17	36					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70546342	70546342	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70546342C>T	ENST00000265872.6	+	21	2892	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	CCAR1_ENST00000543719.1_Silent_p.L910L|CCAR1_ENST00000535016.1_Silent_p.L910L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	925					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAACAGAGATCTGTTAATGGC	0.299000													9	17					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31585633	31585633	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31585633G>A	ENST00000399332.1	-	30	5915	c.5427C>T	c.(5425-5427)gtC>gtT	p.V1809V	HECTD1_ENST00000553700.1_Silent_p.V1809V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1809					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAGTACATTCGACTTCTTCCA	0.418000													22	31					0	0	1	0	0
ZFAND5	0	broad.mit.edu	37	9	74975687	74975687	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74975687T>G	ENST00000237937.3	-	2	565	c.8A>C	c.(7-9)cAg>cCg	p.Q3P	ZFAND5_ENST00000376960.4_Missense_Mutation_p.Q3P|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.Q3P|ZFAND5_ENST00000343431.2_Missense_Mutation_p.Q3P	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	3							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTTAGTCTCCTGAGCCATATT	0.388000													5	99					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147869473	147869473	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:147869473A>C	ENST00000361727.3	+	18	3429	c.2913A>C	c.(2911-2913)ggA>ggC	p.G971G	CNTNAP2_ENST00000538075.1_Silent_p.G30G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	971	EGF-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGCTATGGAACAAACTGTG	0.473000										HNSCC(39;0.1)			25	57					0	0	1	0	0
PTPN13	0	broad.mit.edu	37	4	87684331	87684331	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87684331A>C	ENST00000436978.1	+	24	4485	c.4005A>C	c.(4003-4005)caA>caC	p.Q1335H	PTPN13_ENST00000411767.2_Missense_Mutation_p.Q1335H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1316H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1335H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1144H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1335						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGATCATCAAACACCAAAAC	0.358000													26	81					0	0	1	0	0
LYSMD3	116068	broad.mit.edu	37	5	89814938	89814938	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89814938C>A	ENST00000315948.6	-	3	763	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	207					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TAATAGGGGTCTTTACGTTGA	0.393000													10	97					6.40141e-05	6.95424e-05	1	1	0
ZNF181	339318	broad.mit.edu	37	19	35232056	35232056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35232056G>T	ENST00000392232.3	+	6	1070	c.902G>T	c.(901-903)aGa>aTa	p.R301I	ZNF181_ENST00000459757.1_Missense_Mutation_p.R256I|ZNF181_ENST00000492450.1_Missense_Mutation_p.R257I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CGCCACTGGAGAATTCATACA	0.448000													63	78					1.48873e-21	2.05779e-21	1	1	0
VPS52	6293	broad.mit.edu	37	6	33235673	33235673	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33235673C>T	ENST00000445902.2	-	9	1120	c.902G>A	c.(901-903)cGc>cAc	p.R301H	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R176H|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	301					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGGTAAGAGCGGTAGTAAGA	0.527000													74	30					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101832242	101832242	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101832242A>G	ENST00000254193.6	-	3	306	c.234T>C	c.(232-234)cgT>cgC	p.R78R	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	78						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCACCTATACGGCTAAAAT	0.388000													56	91					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28979455	28979455	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28979455G>A	ENST00000359747.4	+	9	1255	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G409D|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	409	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGTGCTTGGCACATATACA	0.398000													34	57					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3628443	3628443	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3628443A>G	ENST00000304921.5	+	7	720	c.556A>G	c.(556-558)Aat>Gat	p.N186D	RPS7_ENST00000406376.1_Missense_Mutation_p.N186D|RPS7_ENST00000403564.1_Missense_Mutation_p.N186D	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	186					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CAAGGATGTTAATTTTGAATT	0.303000													8	22					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCAGCATCAGGAAACTTGAG	0.493000								DNA polymerases (catalytic subunits)					13	29					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31830330	31830330	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31830330C>A	ENST00000354297.4	+	8	839	c.768C>A	c.(766-768)gtC>gtA	p.V256V	BPIFA1_ENST00000375413.4_Silent_p.V256V|BPIFA1_ENST00000375422.2_Silent_p.V256V	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	256					innate immune response	extracellular region	lipid binding										TCATCAAGGTCTAAGCCTTCC	0.507000													13	31					4.3838e-07	4.998e-07	1	1	0
LINS	55180	broad.mit.edu	37	15	101109703	101109703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101109703C>A	ENST00000314742.8	-	7	2236	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	672										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGGCTAAATTCTTTTTTATCC	0.438000													22	48					1.55795e-14	2.03067e-14	1	1	0
DCAF5	8816	broad.mit.edu	37	14	69588977	69588977	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69588977A>C	ENST00000341516.5	-	2	462	c.315T>G	c.(313-315)ttT>ttG	p.F105L	DCAF5_ENST00000554215.1_Missense_Mutation_p.F23L|DCAF5_ENST00000556847.1_Missense_Mutation_p.F23L|DCAF5_ENST00000557386.1_Missense_Mutation_p.F105L|DCAF5_ENST00000389997.6_Missense_Mutation_p.F105L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	105						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCCAGGCAAAAAATGTTGG	0.488000													33	57					0	0	1	0	0
ARL11	115761	broad.mit.edu	37	13	50204716	50204716	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:50204716G>T	ENST00000282026.1	+	2	468	c.133G>T	c.(133-135)Ggt>Tgt	p.G45C	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	45					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCCCACTGTTGGTTTCAACGT	0.622000													28	56					4.22769e-11	5.2466e-11	1	1	0
GPR98	84059	broad.mit.edu	37	5	89948330	89948330	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89948330A>C	ENST00000405460.2	+	19	3680	c.3584A>C	c.(3583-3585)aAa>aCa	p.K1195T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1195	Calx-beta 9.				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)		TTTCCAGATAAAATTCCTGAA	0.338000													16	19					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801373	39801373	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39801373C>A	ENST00000564288.1	+	37	9890	c.9113C>A	c.(9112-9114)aCt>aAt	p.T3038N	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.T3043N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1478N|MACF1_ENST00000567887.1_Missense_Mutation_p.T3075N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3043					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTCTATTACTTTTAAAATT	0.373000													18	36					1.02788e-11	1.28326e-11	1	1	0
DCTN5	84516	broad.mit.edu	37	16	23672543	23672543	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23672543T>G	ENST00000300087.2	+	4	440	c.289T>G	c.(289-291)Tgt>Ggt	p.C97G	DCTN5_ENST00000563998.1_Missense_Mutation_p.C97G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C97G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	97						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGAAGATTGTGTGGTCAA	0.413000													11	35					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362288	101362288	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101362288T>G	ENST00000344327.3	-	3	1551	c.1128_splice	c.e3+1	p.K376_splice	TRPC6_ENST00000532133.1_Splice_Site_p.K376_splice|TRPC6_ENST00000360497.4_Splice_Site_p.K376_splice|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	376					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGACCTTACTTTTTTTACTTC	0.403000													50	80					0	0	1	0	0
AC003958.2	0	broad.mit.edu	37	17	39567588	39567588	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39567588G>A	ENST00000432258.1	+	0	2046				AC003958.2_ENST00000430006.1_RNA																							CTGGTGCACCGCAAACCTCAC	0.532000													9	19					0	0	1	0	0
RP4-777D9.2	0	broad.mit.edu	37	20	21142658	21142658	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:21142658G>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AGCCCACAAAGAACTTTTCAA	0.453000													17	28					1.15088e-07	1.32965e-07	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100568745	100568745	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568745G>T	ENST00000358544.2	+	31	4999	c.4888G>T	c.(4888-4890)Gat>Tat	p.D1630Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1605Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1630					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)			ATACCAAATAGATCTGCAGTC	0.408000													14	22					1.3612e-06	1.53357e-06	1	1	0
MBD5	0	broad.mit.edu	37	2	149220204	149220204	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149220204C>T	ENST00000407073.1	+	7	1164	c.167C>T	c.(166-168)aCt>aTt	p.T56I	MBD5_ENST00000404807.1_Missense_Mutation_p.T56I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	56	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACCTGCTTACTGATGGAACA	0.353000													12	41					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30859254	30859254	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30859254C>T	ENST00000324771.8	+	8	1211	c.663C>T	c.(661-663)ggC>ggT	p.G221G	DDR1_ENST00000446312.1_Intron|DDR1_ENST00000452441.1_Silent_p.G221G|DDR1_ENST00000376568.3_Silent_p.G221G|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.G221G|DDR1_ENST00000513240.1_Silent_p.G221G|DDR1_ENST00000376567.2_Silent_p.G221G|DDR1_ENST00000454612.2_Silent_p.G221G|DDR1_ENST00000508312.1_Silent_p.G239G|DDR1_ENST00000376575.3_Silent_p.G221G|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376569.3_Silent_p.G221G|DDR1_ENST00000418800.2_Silent_p.G221G			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	221					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ATACCGTGGGCGGGTAAGAAA	0.557000													25	7					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705455	14705455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14705455G>T	ENST00000547437.1	+	6	399	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CLEC17A_ENST00000417570.1_Nonsense_Mutation_p.E108*|CLEC17A_ENST00000397439.2_Nonsense_Mutation_p.E91*	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	108						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AAAGGAAACAGAGAAACCCCC	0.572000													23	59					7.87624e-14	1.01695e-13	1	1	0
RASEF	158158	broad.mit.edu	37	9	85611950	85611950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:85611950G>A	ENST00000376447.3	-	14	2157	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	633					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCCATTCTCGTATGTTAAGA	0.373000													11	26					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132179159	132179159	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132179159G>T	ENST00000260818.6	+	14	1763	c.1515G>T	c.(1513-1515)aaG>aaT	p.K505N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	505							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTCGTCAAAGAAGTTTCTGG	0.308000													14	18					1.49906e-05	1.64923e-05	1	1	0
PIGS	94005	broad.mit.edu	37	17	26890915	26890915	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26890915T>G	ENST00000308360.7	-	4	672	c.297A>C	c.(295-297)aaA>aaC	p.K99N	PIGS_ENST00000543734.1_Missense_Mutation_p.K38N|PIGS_ENST00000395346.2_Missense_Mutation_p.K91N	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	99					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCATTTGATTTTCATTTTGT	0.522000													4	124					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48586455	48586455	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:48586455C>A	ENST00000297423.4	+	11	2021	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S21Y|SPIDR_ENST00000541342.1_Missense_Mutation_p.S476Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.S486Y	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GAAGGGAAGTCTTGCAGCCTG	0.473000													19	44					1.01871e-10	1.25646e-10	1	1	0
CD101	9398	broad.mit.edu	37	1	117554504	117554504	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117554504G>A	ENST00000256652.4	+	3	815	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CD101_ENST00000369470.1_Missense_Mutation_p.E253K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	253	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAGGCAACGGAATGGATTCA	0.493000													11	25					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116187312	116187312	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187312G>A	ENST00000288462.4	+	9	1267	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R274Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	274										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CCAGCACTGCGATATCCTGAA	0.408000													15	18					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	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)			GAGCTGTCTCGTGCCTGCTCG	0.597000									Ichthyosis				7	488					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551180	165551180	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551180T>C	ENST00000375458.2	-	11	2943	c.2722A>G	c.(2722-2724)Atg>Gtg	p.M908V	COBLL1_ENST00000409184.3_Missense_Mutation_p.M946V|COBLL1_ENST00000342193.4_Missense_Mutation_p.M946V|COBLL1_ENST00000194871.6_Missense_Mutation_p.M1013V|COBLL1_ENST00000392717.2_Missense_Mutation_p.M984V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	984										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAAGGCAGCATATCCCTTTCT	0.468000													13	29					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099780	168099780	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168099780C>T	ENST00000409195.1	+	9	1967	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I626I|XIRP2_ENST00000409273.1_Silent_p.I404I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	451					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						CCCAACCCATCGACACACTTG	0.448000													8	47					0	0	1	0	0
IGLV3-19	0	broad.mit.edu	37	22	23063591	23063591	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:23063591G>T	ENST00000390309.2	+	0	338																											TCAGGCGGAAGATGAGGCTGA	0.522000													17	40					1.5739e-10	1.93697e-10	1	1	0
EXOC6B	23233	broad.mit.edu	37	2	72945368	72945368	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72945368C>T	ENST00000272427.6	-	6	663	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R178Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	178					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						CTTGCAGAATCGATAGTGGCT	0.433000													21	38					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310052	24310052	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24310052G>A	ENST00000357002.4	+	4	1365	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF254_ENST00000342944.6_Missense_Mutation_p.R332Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	417					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTTTTAATCGATCTTCAAAT	0.358000													16	19					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572627	90572627	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90572627C>A	ENST00000551025.1	+	0	2636							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATAACATTTTCTCATAATTCA	0.348000													8	61					0.00307968	0.00320271	1	1	0
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438000													13	20					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74458402	74458402	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74458402G>T	ENST00000423644.1	-	24	3026	c.2629C>A	c.(2629-2631)Cct>Act	p.P877T	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.I936I|SLC4A5_ENST00000377632.1_Silent_p.I936I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I936I|SLC4A5_ENST00000358683.4_Silent_p.I834I|SLC4A5_ENST00000357822.5_Silent_p.I936I|SLC4A5_ENST00000346834.4_Silent_p.I936I|SLC4A5_ENST00000359484.4_Silent_p.I834I			Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	23						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCCCGTCAGGATGAAGACGA	0.557000													21	50					5.26018e-13	6.70247e-13	1	1	0
GSN	2934	broad.mit.edu	37	9	124062336	124062336	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:124062336C>A	ENST00000436847.1	+	0	214				GSN_ENST00000373808.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373818.4_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron	NM_001127666.1	NP_001121138.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ATTGTAAGTTCTTGCAGATAC	0.607000													23	50					7.87624e-14	1.01695e-13	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603511	111603511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111603511C>T	ENST00000431670.2	+	2	998	c.587C>T	c.(586-588)tCg>tTg	p.S196L	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S223L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S196L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S196L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	196						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						ATCAGCAGATCGGGAGCCGCA	0.562000													27	52					0	0	1	0	0
CTD-2374C24.1	0	broad.mit.edu	37	5	104435385	104435385	+	RNA	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:104435385A>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GTGATTCTGAAGCCTGAGGAT	0.403000													26	46					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48502155	48502155	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48502155T>G	ENST00000412052.1	+	8	1885	c.1423T>G	c.(1423-1425)Ttg>Gtg	p.L475V	ATRIP_ENST00000357105.6_Missense_Mutation_p.L441V|ATRIP_ENST00000346691.4_Missense_Mutation_p.L568V|ATRIP_ENST00000320211.3_Missense_Mutation_p.L568V	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	568					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTAAGGTTTTGGTGAAATT	0.473000								Other conserved DNA damage response genes					22	52					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483533	26483533	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597000													32	73					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671631	10671631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:10671631G>A	ENST00000302079.6	-	51	7962	c.7963C>T	c.(7963-7965)Cga>Tga	p.R2655*	PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R675*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.R2718*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R510*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2743*			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2718						integral to membrane	ion channel activity	p.R2718R(1)|p.R510R(1)									CCTGTCTCTCGAACTAAAAAA	0.383000													12	22					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52604309	52604309	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52604309G>A	ENST00000521776.2	+	2	2102	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	457					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		p.E457K(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGTGCTGTCCGAATTGAGGGC	0.483000													50	101					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45097553	45097553	+	Missense_Mutation	SNP	C	C	T	rs114802162	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45097553C>T	ENST00000429094.2	-	12	1778	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NELL2_ENST00000549027.1_Missense_Mutation_p.R424Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R424Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R425Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R448Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R475Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R424Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	425	EGF-like 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R475Q(1)|p.R425Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAAACCATCTCGACAGCTACA	0.393000													23	41					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976683	47976683	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47976683G>T	ENST00000543600.1	-	2	582	c.543C>A	c.(541-543)ttC>ttA	p.F181L	PTCHD4_ENST00000339488.4_Missense_Mutation_p.F198L			Q6ZW05	CF138_HUMAN	patched domain containing 4	198						integral to membrane	hedgehog receptor activity										TAAGCTTACAGAACTCATTCT	0.502000													14	25					4.3838e-07	4.998e-07	1	1	0
PLEKHA5	54477	broad.mit.edu	37	12	19512414	19512414	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:19512414A>C	ENST00000538714.1	+	24	3097	c.3093A>C	c.(3091-3093)gaA>gaC	p.E1031D	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E731D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1036D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1139D|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E973D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E962D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E917D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E955D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	973							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAGACCATGAAACTCCTGCAA	0.388000													7	50					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096694	36096694	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36096694G>A	ENST00000258840.6	-	34	5472	c.5082C>T	c.(5080-5082)tgC>tgT	p.C1694C	RALGAPA1_ENST00000307138.6_Silent_p.C1647C|RALGAPA1_ENST00000382366.3_Silent_p.C1660C|RALGAPA1_ENST00000389698.3_Silent_p.C1647C			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1647	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATCTTCTAAGCATTCATTAG	0.403000													24	43					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967813	87967813	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87967813T>G	ENST00000369577.3	+	8	4509	c.4466T>G	c.(4465-4467)aTt>aGt	p.I1489S	ZNF292_ENST00000339907.4_Missense_Mutation_p.I1484S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1489					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)		GGTAGTGAAATTATTAAACAG	0.413000													10	22					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53848860	53848860	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53848860G>T	ENST00000458035.1	+	3	234	c.117G>T	c.(115-117)gaG>gaT	p.E39D	ZNF845_ENST00000595091.1_Missense_Mutation_p.E39D	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGATGCTGGAGAATTATAGGA	0.463000													54	113					7.34454e-26	1.03635e-25	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621305	8621305	+	Silent	SNP	G	G	A	rs139174553	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:8621305G>A	ENST00000429646.2	+	9	3537	c.744G>A	c.(742-744)tcG>tcA	p.S248S	CPZ_ENST00000382480.2_Silent_p.S503S|CPZ_ENST00000360986.4_Silent_p.S640S|CPZ_ENST00000315782.6_Silent_p.S629S			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	640					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTTCACATCGCTGAGCACCC	0.706000													18	31					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17365098	17365098	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17365098G>A	ENST00000377602.4	-	7	768	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	232					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						ATAGTCACAAGATTTGTTTTA	0.343000													21	46					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90497470	90497470	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90497470C>T	ENST00000404190.1	+	6	748	c.748C>T	c.(748-750)Cta>Tta	p.L250L		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	250					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CAATCGAAAGCTATTCCGTCG	0.383000													30	72					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6906479	6906479	+	Missense_Mutation	SNP	G	G	A	rs151096072		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6906479G>A	ENST00000312053.4	+	9	1022	c.985G>A	c.(985-987)Gat>Aat	p.D329N	EMR1_ENST00000450315.3_Missense_Mutation_p.D152N|EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000381407.5_Missense_Mutation_p.D188N|EMR1_ENST00000250572.8_Missense_Mutation_p.D329N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	329	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.D329Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGATACCCGATAATAAGCA	0.393000													29	43					0	0	1	0	0
PTPN12	0	broad.mit.edu	37	7	77166889	77166889	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77166889A>C	ENST00000248594.6	+	1	298	c.26A>C	c.(25-27)aAa>aCa	p.K9T		NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	9						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCCTGAGGAAATTCATCCAG	0.667000													8	14					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972481	35972481	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35972481T>G	ENST00000325722.3	-	3	632	c.398A>C	c.(397-399)aAa>aCa	p.K133T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	133						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTTGGAATTTTTTTAAAAA	0.512000													34	54					0	0	1	0	0
PSMD10	5716	broad.mit.edu	37	X	107331316	107331316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107331316G>T	ENST00000217958.3	-	3	324	c.227C>A	c.(226-228)cCt>cAt	p.P76H	PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000361815.5_Missense_Mutation_p.P76H|PSMD10_ENST00000340200.5_Missense_Mutation_p.P43H|PSMD10_ENST00000372296.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	76	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AATATGAAGAGGAGACCAACC	0.453000													7	104					8.12818e-05	8.79784e-05	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28270421	28270421	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28270421T>C	ENST00000305242.5	-	7	1002	c.910A>G	c.(910-912)Aaa>Gaa	p.K304E	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K161E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	304							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						TCTGAAAATTTTGGTGATTTT	0.294000													14	32					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71654320	71654320	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71654320T>G	ENST00000409544.1	+	24	5951	c.5321T>G	c.(5320-5322)tTt>tGt	p.F1774C	ZNF638_ENST00000409407.1_Missense_Mutation_p.F714C|ZNF638_ENST00000264447.4_Missense_Mutation_p.F1774C|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1774					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAGCTTAATTTTGTTACTGTT	0.373000													35	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179568878G>A	ENST00000589042.1	-	106	30443	c.30219C>T	c.(30217-30219)atC>atT	p.I10073I	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9756	Glu-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)			ACGCACCTTCGATTCTGAGTT	0.468000													6	117					0	0	1	0	0
WDR89	112840	broad.mit.edu	37	14	64066622	64066622	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066622A>G	ENST00000394942.2	-	2	127	c.39T>C	c.(37-39)atT>atC	p.I13I	WDR89_ENST00000267522.3_Silent_p.I13I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	13										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		AACATTTAACAATGTGCAGAT	0.343000													6	64					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290790	62290790	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290790A>C	ENST00000378024.4	-	5	11373	c.11099T>G	c.(11098-11100)cTa>cGa	p.L3700R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3700					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGGCCTTTTAGATCACCTTC	0.483000													97	174					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1345579	1345579	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1345579A>C	ENST00000389851.4	+	4	953	c.506A>C	c.(505-507)aAa>aCa	p.K169T	UVSSA_ENST00000511216.1_Missense_Mutation_p.K169T|UVSSA_ENST00000507531.1_Missense_Mutation_p.K169T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	169																	CACTTGGATAAAATTTATCAA	0.517000											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	53					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18057674	18057674	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18057674G>A	ENST00000250018.2	-	2	695	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	TPH1_ENST00000341556.2_Silent_p.L45L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	45	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATATGTAACAGATTCACATGC	0.338000													7	10					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939204	47939204	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47939204T>G	ENST00000402813.3	-	10	1656	c.1514A>C	c.(1513-1515)aAa>aCa	p.K505T	CNGA1_ENST00000514170.1_Missense_Mutation_p.K436T|CNGA1_ENST00000544810.1_Missense_Mutation_p.K436T|CNGA1_ENST00000420489.2_Missense_Mutation_p.K436T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K436T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	436					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTCAAACCATTTAATAACCCT	0.348000													9	82					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74293523	74293523	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74293523A>C	ENST00000398761.4	-	5	650	c.518T>G	c.(517-519)aTa>aGa	p.I173R	MICU1_ENST00000401998.3_Missense_Mutation_p.I173R|MICU1_ENST00000361114.5_Missense_Mutation_p.I173R			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	173					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										AAAGCGTTTTATTATATATTG	0.294000													5	7					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107863490	107863490	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107863490T>C	ENST00000328300.6	+	31	2755	c.2509_splice	c.e31-1	p.G837_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G837_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	837	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTAACTAGGTTTACATGGAA	0.423000									Alport syndrome with Diffuse Leiomyomatosis				23	50					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91845729	91845729	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91845729A>G	ENST00000370425.3	-	8	1036	c.938T>C	c.(937-939)tTt>tCt	p.F313S	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	313	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCTAGTTCAAACACTACAGT	0.284000													20	34					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937052	33937052	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33937052C>T	ENST00000330120.3	+	1	562	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	69						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGGCAGCGGCGGGGCAGAGA	0.697000													30	44					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55733485	55733485	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:55733485C>T	ENST00000379906.2	+	11	1764	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	SLC6A2_ENST00000566163.1_Silent_p.N458N|SLC6A2_ENST00000567238.1_Silent_p.N398N|SLC6A2_ENST00000414754.3_Silent_p.N503N|SLC6A2_ENST00000561820.1_Silent_p.N503N|SLC6A2_ENST00000219833.8_Silent_p.N503N|SLC6A2_ENST00000568943.1_Silent_p.N503N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	503					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTTCAGCAACGACATCCAGC	0.597000													22	45					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307386	46307386	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46307386C>T	ENST00000357422.2	+	4	1280	c.737C>T	c.(736-738)gCg>gTg	p.A246V	CCR3_ENST00000395940.2_Missense_Mutation_p.A246V|CCR3_ENST00000395942.2_Missense_Mutation_p.A246V|CCR3_ENST00000545097.1_Missense_Mutation_p.A267V|CCR3_ENST00000541018.1_Missense_Mutation_p.A246V			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	246					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCATCATGGCGGTGTTTTTC	0.453000													18	31					0	0	1	0	0
NUDT4	11163	broad.mit.edu	37	12	93792607	93792607	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93792607G>A	ENST00000337179.5	+	4	759	c.319G>A	c.(319-321)Gat>Aat	p.D107N	NUDT4_ENST00000547014.1_Missense_Mutation_p.D55N|NUDT4_ENST00000415493.2_Missense_Mutation_p.D106N|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54N|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54N	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	106	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AATATTAGAAGATTGGGAAGA	0.323000													8	21					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54858519	54858519	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:54858519A>G	ENST00000333896.5	+	15	3681	c.3296A>G	c.(3295-3297)gAc>gGc	p.D1099G	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1112G	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1112					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACGAGATCGACAACTACGAG	0.587000													46	95					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85664054	85664054	+	Silent	SNP	C	C	T	rs149557632		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:85664054C>T	ENST00000310298.4	+	19	2013	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	PDE8A_ENST00000339708.5_Silent_p.V541V|PDE8A_ENST00000394553.1_Silent_p.V587V|PDE8A_ENST00000557957.1_Silent_p.V515V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	587	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.V587V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTGATGAGGTCGCTGCACTCA	0.448000													24	48					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14947660	14947660	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:14947660G>A	ENST00000261167.2	-	7	765	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	WBP11_ENST00000537574.1_Missense_Mutation_p.R178W	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	178	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GAAACTGCCCGAGTTGGAGGT	0.428000													34	46					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080743	54080743	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54080743G>A	ENST00000253144.9	+	7	2262	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ZNF331_ENST00000411977.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000513999.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.R310Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	310					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)		GCCTTTACTCGAGTCAATTAC	0.473000			T	?	follicular thyroid adenoma								22	42					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438067	204438067	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204438067G>T	ENST00000367187.3	-	3	1420	c.864C>A	c.(862-864)acC>acA	p.T288T	PIK3C2B_ENST00000424712.2_Silent_p.T288T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	288	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGAGGCATAGGTGCGGGGGG	0.617000													47	96					3.77016e-25	5.30521e-25	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24388592	24388592	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24388592G>A	ENST00000330966.7	-	33	3949	c.3787C>T	c.(3787-3789)Cgt>Tgt	p.R1263C	MYOM3_ENST00000374434.3_Missense_Mutation_p.R1260C|MYOM3_ENST00000338909.5_Missense_Mutation_p.R153C|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1260										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTCTCCAGACGTTTGTCTCTG	0.512000													35	81					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52660432	52660432	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52660432C>A	ENST00000322146.8	-	5	1025	c.504G>T	c.(502-504)gaG>gaT	p.E168D	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E168D	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAACTGTCTTCTCAGATTGGT	0.343000													3	9					0.004672	0.00483628	1	1	0
TTC21A	199223	broad.mit.edu	37	3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39159652C>A	ENST00000301819.6	+	7	986	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000431162.2_Missense_Mutation_p.S270Y|TTC21A_ENST00000440121.1_Intron	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270							binding	p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458000													32	57					3.11337e-16	4.1367e-16	1	1	0
DACH2	117154	broad.mit.edu	37	X	85631856	85631856	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85631856C>A	ENST00000373125.4	+	2	518	c.518C>A	c.(517-519)gCt>gAt	p.A173D	DACH2_ENST00000373131.1_Intron|DACH2_ENST00000508860.1_Missense_Mutation_p.A6D|DACH2_ENST00000510272.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						agaaaacaagctgttaacagg	0.338000													3	3					0.00909568	0.00935351	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36873394	36873394	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36873394C>T	ENST00000429976.2	-	21	7795	c.7548G>A	c.(7546-7548)gaG>gaA	p.E2516E	TRANK1_ENST00000428977.2_Silent_p.E1966E|TRANK1_ENST00000301807.6_Silent_p.E1966E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2516					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						CCAGTGTCCGCTCAGCCTCAC	0.527000													42	98					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592872	104592872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104592872C>A	ENST00000369887.3	-	5	1018	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	283					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	AGCTCTGAGTCTTGATCTGGG	0.512000													27	55					1.33986e-20	1.83757e-20	1	1	0
INSR	0	broad.mit.edu	37	19	7125368	7125368	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7125368A>G	ENST00000341500.5	-	16	3187	c.3148T>C	c.(3148-3150)Tca>Cca	p.S1050P	INSR_ENST00000302850.5_Missense_Mutation_p.S1062P	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1062	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGACTGGCTGACTCGTTGACC	0.612000													29	67					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58388316	58388316	+	Missense_Mutation	SNP	G	G	A	rs145957248	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58388316G>A	ENST00000435989.2	-	2	365	c.131C>T	c.(130-132)aCg>aTg	p.T44M	ZNF814_ENST00000600634.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597342.1_Missense_Mutation_p.T73M|ZNF814_ENST00000595295.1_Intron|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597832.1_Missense_Mutation_p.T44M|ZNF814_ENST00000596604.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597807.1_Missense_Mutation_p.T44M	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	44	KRAB.				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						GTTCTCCAGCGTCACATCACG	0.498000													32	65					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24834300	24834300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24834300G>T	ENST00000395799.3	+	24	5608	c.5479G>T	c.(5479-5481)Gaa>Taa	p.E1827*	TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.E305*|TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.E1778*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1827	RRM.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTCAAAAGAAGAGGTAGT	0.542000													52	112					2.81731e-22	3.91347e-22	1	1	0
FAM122B	159090	broad.mit.edu	37	X	133922766	133922766	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133922766G>A	ENST00000370790.1	-	5	1300	c.372C>T	c.(370-372)ttC>ttT	p.F124F	FAM122B_ENST00000298090.6_Silent_p.F143F|FAM122B_ENST00000486347.1_Silent_p.F124F|FAM122B_ENST00000343004.5_Silent_p.F143F|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	124										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTACCTTTCCGAATCCCCTGG	0.398000													9	35					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918955	52918955	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52918955C>A	ENST00000360465.3	+	7	1276	c.850C>A	c.(850-852)Ctt>Att	p.L284I	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CAGTTCAAAGCTTGCACAACA	0.378000													26	57					1.1804e-14	1.54286e-14	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45130994	45130994	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45130994C>A	ENST00000457685.2	-	6	2193	c.870G>T	c.(868-870)aaG>aaT	p.K290N	ZNF334_ENST00000347606.4_Missense_Mutation_p.K328N|ZNF334_ENST00000593880.1_Missense_Mutation_p.K351N			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAAAAAAGGTCTTTCCACATT	0.438000													4	107					0.184627	0.185817	1	1	0
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4869969G>T	ENST00000322101.2	-	1	545	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCGAAAAGAAATGGCCAG	0.552000													55	93					1.07234e-20	1.47176e-20	1	1	0
CCNT1	904	broad.mit.edu	37	12	49088048	49088048	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49088048C>T	ENST00000261900.3	-	9	1171	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	317					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GATGACTCTTCGGAGACTGGC	0.498000													38	47					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77579062	77579062	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77579062C>T	ENST00000416283.2	+	15	2051	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000248550.7_Missense_Mutation_p.S676L|PHTF2_ENST00000422959.2_Missense_Mutation_p.S642L|PHTF2_ENST00000307305.8_Missense_Mutation_p.S638L	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGGTGCATCTCGTTAACACTT	0.353000													5	7					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105825262	105825262	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:105825262G>A	ENST00000369110.3	-	3	445	c.254_splice	c.e3+1	p.R85_splice		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	85					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAGTCTCACCGTTTTCCTTTC	0.328000													27	66					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37268371	37268371	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37268371G>A	ENST00000233099.5	-	19	2856	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	921							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAACATAACGATGCAAACAA	0.433000													32	43					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360083	149360083	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149360083T>G	ENST00000286298.4	+	3	1195	c.927T>G	c.(925-927)ctT>ctG	p.L309L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	309						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCACCAGCCTTTTGTGCCTTT	0.428000													11	43					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143570434	143570434	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143570434C>T	ENST00000517894.1	+	15	3385	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F	BAI1_ENST00000323289.5_Missense_Mutation_p.L831F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	831					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCACCGTGCTCTACAGGAA	0.672000													5	15					0	0	1	0	0
TAF8	129685	broad.mit.edu	37	6	42023720	42023720	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:42023720C>A	ENST00000372977.3	+	4	350	c.332C>A	c.(331-333)gCa>gAa	p.A111E	TAF8_ENST00000456846.2_Missense_Mutation_p.A111E|TAF8_ENST00000472818.1_Missense_Mutation_p.A111E|TAF8_ENST00000494547.1_Missense_Mutation_p.A111E|TAF8_ENST00000465926.1_Missense_Mutation_p.A48E|TAF8_ENST00000372982.4_Missense_Mutation_p.A111E|TAF8_ENST00000372978.3_Missense_Mutation_p.A111E|TAF8_ENST00000482432.1_Missense_Mutation_p.A48E|TAF8_ENST00000482926.1_3'UTR	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	111					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTGCTTATGCAAAACGGTCT	0.388000													34	19					6.05902e-23	8.45196e-23	1	1	0
OR1J1	347168	broad.mit.edu	37	9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125239745G>A	ENST00000259357.2	-	1	490	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542000													18	28					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71205013G>A	ENST00000554752.2	-	8	1792	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M|MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	598					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCCCCCACGTCCGTCCCTT	0.557000													29	57					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152476036	152476036	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152476036C>A	ENST00000367255.5	-	133	24721	c.24120G>T	c.(24118-24120)aaG>aaT	p.K8040N	SYNE1_ENST00000423061.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000539504.1_Missense_Mutation_p.K195N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K8040N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7652N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K2564N|SYNE1_ENST00000354674.4_Missense_Mutation_p.K195N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8040					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCAAATTTCTTTAGTTCTT	0.383000										HNSCC(10;0.0054)			47	70					1.48734e-19	2.02648e-19	1	1	0
ATR	545	broad.mit.edu	37	3	142281164	142281164	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281164C>T	ENST00000350721.4	-	4	1201	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	ATR_ENST00000383101.3_Silent_p.G360G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	360					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGATTCATACCCAGCTGGCA	0.398000								Other conserved DNA damage response genes					22	44					0	0	1	0	0
PCDHGA6	0	broad.mit.edu	37	5	140754335	140754335	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140754335C>A	ENST00000517434.1	+	1	685	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCAAATTCTGGTAACAGT	0.542000													14	21					6.31663e-08	7.35827e-08	1	1	0
MGAM	8972	broad.mit.edu	37	7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141727464C>T	ENST00000475668.2	+	10	1204	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000549489.2_Missense_Mutation_p.R384C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453000													12	17					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18539887	18539887	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18539887A>C	ENST00000345096.4	-	9	1220	c.521T>G	c.(520-522)cTc>cGc	p.L174R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.L174R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ATAGGCCACGAGGATGTCACA	0.463000													16	138					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23895323	23895323	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:23895323C>A	ENST00000269142.5	+	10	2961	c.1963C>A	c.(1963-1965)Ctt>Att	p.L655I	TAF4B_ENST00000578121.1_Missense_Mutation_p.L660I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	655	Histone-fold.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TGAACCATTTCTTTTTATTGG	0.358000													12	27					7.03913e-09	8.36985e-09	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22383340C>T	ENST00000328795.4	+	1	959	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATACCCTTCGCAACCAGGA	0.413000													15	123					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43205521	43205521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43205521C>T	ENST00000539749.1	-	1	404	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CLDN19_ENST00000372539.3_Missense_Mutation_p.A72T|CLDN19_ENST00000296387.1_Missense_Mutation_p.A72T	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	72					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGTCCAGGGCGAGCAGCGAG	0.637000													8	16					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91827259	91827259	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:91827259G>A	ENST00000394232.1	+	11	1986	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	SV2B_ENST00000330276.4_Missense_Mutation_p.E506K|SV2B_ENST00000545111.2_Missense_Mutation_p.E355K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	506					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGACCTCTACGAGCACAAGTT	0.512000													73	147					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571456	179571456	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179571456C>T	ENST00000589042.1	-	102	29369	c.29145G>A	c.(29143-29145)gcG>gcA	p.A9715A	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A8471A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.A9398A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9398	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGAAGGTCGCAGTGGTTT	0.353000													23	34					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	435658	435658	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:435658T>C	ENST00000338977.5	-	2	2610	c.2562A>G	c.(2560-2562)acA>acG	p.T854T	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.T866T|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTCTCCACATGTGTAGGGTT	0.423000													20	28					0	0	1	0	0
PCDHA13	0	broad.mit.edu	37	5	140262568	140262568	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140262568G>A	ENST00000289272.2	+	1	715	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A239T|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCCCCGGAATT	0.458000													25	50					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554640	123554640	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123554640C>A	ENST00000422452.2	-	25	4566	c.4503G>T	c.(4501-4503)atG>atT	p.M1501I	TENM1_ENST00000371130.3_Missense_Mutation_p.M1494I|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGGGGCTTTCATCTTTGCAT	0.463000													48	60					4.18559e-23	5.84444e-23	1	1	0
ABCB8	11194	broad.mit.edu	37	7	150739111	150739111	+	Missense_Mutation	SNP	G	G	A	rs144722322	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150739111G>A	ENST00000358849.4	+	14	1774	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	ABCB8_ENST00000542328.1_Missense_Mutation_p.D473N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D561N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.D578N	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	578	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D561N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGCTTCCGATGAAGAGGT	0.577000													30	52					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476392	32476392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32476392G>A	ENST00000404025.2	-	5	1029	c.541C>T	c.(541-543)Cga>Tga	p.R181*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R181*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R181*|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	181	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGGCAATTCGCTGCAGCAGA	0.572000													25	51					0	0	1	0	0
SOCS2	8835	broad.mit.edu	37	12	93968612	93968612	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93968612C>A	ENST00000340600.2	+	3	852	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	SOCS2_ENST00000536696.2_Missense_Mutation_p.S85Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	85	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	p.S85C(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTAACAATATCTGTTAAAACA	0.363000													20	30					8.34094e-07	9.42356e-07	1	1	0
RYR2	6262	broad.mit.edu	37	1	237895444	237895444	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237895444G>T	ENST00000366574.2	+	78	11351	c.11034G>T	c.(11032-11034)gaG>gaT	p.E3678D	RYR2_ENST00000360064.6_Missense_Mutation_p.E3676D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTAACAGAGAAATGGTATG	0.443000													8	43					0.000274275	0.000292037	1	1	0
ZMYND8	23613	broad.mit.edu	37	20	45853141	45853141	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45853141T>C	ENST00000311275.7	-	19	3278	c.3025A>G	c.(3025-3027)Aag>Gag	p.K1009E	ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K983E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K957E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K958E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1036E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K900E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K877E|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K931E|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K963E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K983E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1029E|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1009E			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1009							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCAGCTGCTTCTTCACCTCG	0.592000													60	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592343	179592343	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179592343G>A	ENST00000589042.1	-	68	20186	c.19962C>T	c.(19960-19962)agC>agT	p.S6654S	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5410S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S6337S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6337	Ig-like 48.						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)			TACAAGAGTCGCTACCAACAT	0.413000													52	156					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75830449	75830449	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75830449G>A	ENST00000211998.4	+	3	355	c.261G>A	c.(259-261)aaG>aaA	p.K87K	VCL_ENST00000417648.2_Silent_p.K87K|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.K87K	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	87	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTTGCACCAAGCTTGTCCAGG	0.468000													31	65					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450260	55450260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55450260C>A	ENST00000446217.1	-	6	2413	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E643*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E643*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	643							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTTACCTTTCAAATTCAATG	0.483000													30	77					5.60225e-13	7.13348e-13	1	1	0
RUNX1	861	broad.mit.edu	37	21	36259341	36259341	+	Silent	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:36259341G>C	ENST00000344691.4	-	1	1646	c.69C>G	c.(67-69)ggC>ggG	p.G23G	RUNX1_ENST00000399240.1_Silent_p.G23G|RUNX1_ENST00000358356.5_Silent_p.G23G|RUNX1_ENST00000437180.1_Silent_p.G50G|RUNX1_ENST00000325074.5_Silent_p.G38G|RUNX1_ENST00000486278.2_Silent_p.G26G|RUNX1_ENST00000300305.3_Silent_p.G50G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	23					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F40fs*14(1)|p.R38fs*16(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGCTCATCTTGCCTGGGCTCA	0.692000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								13	25					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390389	22390389	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:22390389C>T	ENST00000334304.5	-	19	3174	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	969					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.E969K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGATTTATTTCGCCATTTTCA	0.438000													29	43					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184787866	184787866	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:184787866G>A	ENST00000367511.3	-	9	1272	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	360					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		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						ACTGAATCCCGAGCTCACTGG	0.542000													22	157					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37893260	37893260	+	Splice_Site	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37893260A>T	ENST00000357972.5	+	2	664	c.119_splice	c.e2+1	p.R40_splice	SYTL5_ENST00000456733.2_Splice_Site_p.R40_splice|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Splice_Site_p.R40_splice			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	40	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAGAGAATAAGGTAGTATTC	0.368000													6	19					0	0	1	0	0
BDKRB1	0	broad.mit.edu	37	14	96730613	96730613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96730613G>A	ENST00000216629.6	+	3	1200	c.594G>A	c.(592-594)tgG>tgA	p.W198*	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W198*	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	198					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATGAGGCCTGGCACTTTGCAA	0.567000													30	43					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:19144267C>T	ENST00000269214.5	-	7	2655	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	573					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.R573Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGAATGATTTCGTGGTGTCTC	0.294000													5	13					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251633	98251633	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98251633C>A	ENST00000284311.3	+	1	891	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	252						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCTTTCTTGTCTCCTGGCTGC	0.453000													26	53					4.26978e-12	5.35675e-12	1	1	0
SLC13A3	64849	broad.mit.edu	37	20	45194982	45194982	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45194982C>A	ENST00000279027.4	-	11	1398	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC13A3_ENST00000472148.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E45D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E413D|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E413D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E410D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E378D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	460						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGCACATTCTCCAGGGGGT	0.617000													43	95					1.41504e-22	1.969e-22	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1246126	1246126	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1246126C>T	ENST00000324642.3	+	12	1943	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	607					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCCCAGACACGGACATGCGC	0.736000													3	12					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542671	48542671	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542671G>T	ENST00000376701.4	+	2	207		c.e2-1		WAS_ENST00000483750.1_Splice_Site	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome						blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TCCTCTCCCAGACGCTGGCCA	0.602000			"""Mis, N, F, S"""			lymphoma							26	43					2.12542e-12	2.68024e-12	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58137400	58137400	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137400G>T	ENST00000184956.6	-	10	1490	c.1474C>A	c.(1474-1476)Ctt>Att	p.L492I	HEATR6_ENST00000585976.1_Missense_Mutation_p.L492I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	492							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCAACAGAAAGAAACTGCTTT	0.433000													21	128					1.87028e-06	2.10206e-06	1	1	0
FAM120B	84498	broad.mit.edu	37	6	170627407	170627407	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:170627407A>G	ENST00000476287.1	+	2	1037	c.929A>G	c.(928-930)aAa>aGa	p.K310R	FAM120B_ENST00000540480.1_Missense_Mutation_p.K322R|FAM120B_ENST00000537664.1_Missense_Mutation_p.K333R|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	310					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCAGGACAAAAATCTCCATGG	0.373000													35	69					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100441926	100441926	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100441926G>T	ENST00000279907.7	-	18	3979	c.3767C>A	c.(3766-3768)tCt>tAt	p.S1256Y	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S906Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1256										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAATCTCAGAGAAATCTCAGG	0.358000													14	39					6.49762e-13	8.24929e-13	1	1	0
CA10	56934	broad.mit.edu	37	17	49731017	49731017	+	Silent	SNP	A	A	C	rs145659285		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:49731017A>C	ENST00000451037.2	-	5	1486	c.546T>G	c.(544-546)gtT>gtG	p.V182V	CA10_ENST00000285273.4_Silent_p.V182V|CA10_ENST00000442502.2_Silent_p.V182V|CA10_ENST00000340813.6_Silent_p.V188V|CA10_ENST00000570565.1_Silent_p.V107V|CA10_ENST00000571918.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	182					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAAATATAGAAACTACCACCA	0.403000													11	13					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565138	175565138	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:175565138C>A	ENST00000274093.3	-	10	1696	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M383I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	398					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CCTTTGGAGTCATGCCATCCT	0.473000													21	55					3.51602e-12	4.42195e-12	1	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91338638	91338638	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:91338638A>G	ENST00000261991.3	-	17	2362	c.2189T>C	c.(2188-2190)tTt>tCt	p.F730S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F651S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	730					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTGAAGGCAAAACCCCTCTCT	0.458000													17	22					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50410486	50410486	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50410486T>G	ENST00000434422.1	-	3	314	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	RACGAP1_ENST00000551016.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000547905.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000427314.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.M5L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M5L			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	5					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACATTCAGCATCATAGTATCC	0.463000													49	90					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21384820	21384820	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384820A>C	ENST00000380206.2	-	1	576	c.509T>G	c.(508-510)aTc>aGc	p.I170S		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	170					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGATCTCATGATTTCTGCTCT	0.383000													81	141					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521284	129521284	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:129521284T>C	ENST00000305031.4	+	3	2807	c.2449T>C	c.(2449-2451)Tct>Cct	p.S817P		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	817						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGTCATTCTATCTGGCTTAAG	0.408000													4	56					0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605688	77605688	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77605688A>G	ENST00000319374.4	-	2	596	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	132						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGGAGGTGTAGAGGCAGAAC	0.607000													8	5					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609891	117609891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117609891C>A	ENST00000368508.3	-	43	7006	c.6808G>T	c.(6808-6810)Gaa>Taa	p.E2270*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2264*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2270					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2270K(2)	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)		TTTAACCCTTCTCGGTTCTTC	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	27					1.33834e-09	1.61283e-09	1	1	0
NDFIP1	80762	broad.mit.edu	37	5	141524180	141524180	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141524180C>T	ENST00000253814.4	+	7	1077	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	203					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAAAGTTCGGAAGATGCC	0.323000													37	71					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373532	97373532	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97373532T>C	ENST00000264963.4	-	7	845	c.823A>G	c.(823-825)Aca>Gca	p.T275A	LMAN2L_ENST00000537039.1_Missense_Mutation_p.T137A|LMAN2L_ENST00000534882.1_Missense_Mutation_p.T130A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T141A|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T286A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	275					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTCTCCACTGTCAGTTCAAAC	0.453000													24	67					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19241726	19241726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19241726T>G	ENST00000263200.10	-	3	347	c.275A>C	c.(274-276)aAt>aCt	p.N92T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.N92T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.N92T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	92	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CATCTCAATATTAAAGATCTG	0.343000			T	?	ALCL								14	18					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627334	133627334	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133627334G>T	ENST00000519595.1	-	8	1022	c.924C>A	c.(922-924)ttC>ttA	p.F308L	LRRC6_ENST00000518642.1_Missense_Mutation_p.F308L|LRRC6_ENST00000250173.1_Missense_Mutation_p.F308L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	308	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTTCAAAGAGAAGTCAATTC	0.318000													5	44					0.000602214	0.000636035	1	1	0
LARP4B	23185	broad.mit.edu	37	10	876893	876893	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:876893C>A	ENST00000316157.3	-	8	815	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	259	RRM.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTAAATTATCTCCTTTAAAT	0.284000													18	33					2.35188e-11	2.92451e-11	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113540667	113540667	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113540667C>T	ENST00000505019.1	-	6	656	c.531G>A	c.(529-531)gaG>gaA	p.E177E	C4orf21_ENST00000445203.2_Silent_p.E146E|C4orf21_ENST00000309071.5_Silent_p.E177E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	177										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCACAATGTTCTCAGGGTCTG	0.408000													18	33					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339938	16339938	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16339938A>G	ENST00000400202.1	-	3	1288	c.576T>C	c.(574-576)agT>agC	p.S192S	NRIP1_ENST00000318948.4_Silent_p.S192S|NRIP1_ENST00000400199.1_Silent_p.S192S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	192	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTTTAACTTTACTTTTCTTCA	0.378000													22	38					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991830	52991830	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52991830G>A	ENST00000371544.3	-	2	385	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ZCCHC11_ENST00000257177.4_Silent_p.S41S|ZCCHC11_ENST00000355809.4_Silent_p.S41S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	41					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTCTTTTACGGATTTATCAT	0.274000													9	27					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135426790	135426790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135426790G>T	ENST00000394143.1	+	6	1216	c.925G>T	c.(925-927)Gag>Tag	p.E309*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.E246*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E309*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E104*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGATGAGACAGCTAC	0.368000													17	66					1.99824e-07	2.29918e-07	1	1	0
EPHA1	2041	broad.mit.edu	37	7	143098425	143098425	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143098425A>G	ENST00000275815.3	-	3	510	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	142						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCTTCTGGAACAAGGGCCGT	0.592000													42	78					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865185	118865185	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865185G>A	ENST00000295622.1	+	1	189	c.149G>A	c.(148-150)aGa>aAa	p.R50K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	50										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTGCTCACAGAATAGCTGAC	0.532000													20	48					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24567184	24567184	+	Silent	SNP	G	G	A	rs140732312	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24567184G>A	ENST00000319715.4	+	6	912	c.480G>A	c.(478-480)acG>acA	p.T160T	RBBP6_ENST00000348022.2_Silent_p.T160T|RBBP6_ENST00000381039.3_Silent_p.T160T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CATCTTACACGTGTTTCCGTT	0.358000													14	31					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798541	119798541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:119798541C>A	ENST00000355624.3	-	3	1646	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.E403*|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	403					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)		TTGGTTGACTCATAATCAAAA	0.368000													22	42					3.8784e-16	5.13982e-16	1	1	0
DMRT2	10655	broad.mit.edu	37	9	1056315	1056315	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:1056315A>C	ENST00000382251.3	+	5	1057	c.728A>C	c.(727-729)aAa>aCa	p.K243T	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.K243T|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.K243T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	243					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTTGCTGATAAAGAGTTGGAG	0.493000													38	73					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970902	151970902	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151970902C>A	ENST00000355193.2	-	7	1118	c.900G>T	c.(898-900)gaG>gaT	p.E300D	KMT2C_ENST00000262189.6_Missense_Mutation_p.E300D					lysine (K)-specific methyltransferase 2C																		GGGTACATTTCTCTTCACAGC	0.428000													14	93					3.27435e-08	3.83577e-08	1	1	0
UBN1	29855	broad.mit.edu	37	16	4908061	4908061	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4908061A>C	ENST00000396658.4	+	2	1023	c.320A>C	c.(319-321)aAa>aCa	p.K107T	UBN1_ENST00000590769.1_Missense_Mutation_p.K107T|UBN1_ENST00000262376.6_Missense_Mutation_p.K107T|UBN1_ENST00000545171.1_Missense_Mutation_p.K107T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	107	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CTTGCCCGAAAATTTGAAGAA	0.378000													22	53					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	rs62556589		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423000													5	24					0	0	1	0	0
AKR1C1	1645	broad.mit.edu	37	10	5006036	5006036	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5006036T>C	ENST00000380859.1	+	1	56	c.41T>C	c.(40-42)aTa>aCa	p.I14T	AKR1C1_ENST00000434459.2_Intron|AKR1C1_ENST00000380872.4_Intron|AKR1C1_ENST00000477661.1_Intron					aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GTCGAACAGATATTTACTTCT	0.413000													9	50					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51201024	51201024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51201024C>A	ENST00000261842.5	+	1	155	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	17					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGGACTCTTTCTGCAGAACCA	0.721000													9	10					0.000442599	0.00046913	1	1	0
KIAA1841	84542	broad.mit.edu	37	2	61331021	61331021	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61331021C>T	ENST00000402291.1	+	13	1640	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467C|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	467										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGTTACACTTCGTGATCAAGG	0.418000													14	20					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133547778	133547778	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133547778C>T	ENST00000409261.1	-	13	1283	c.909_splice	c.e13-1	p.E304_splice	NCKAP5_ENST00000317721.6_Splice_Site_p.E304_splice|NCKAP5_ENST00000409213.1_Splice_Site_p.E304_splice|NCKAP5_ENST00000405974.3_Splice_Site_p.E304_splice	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	304							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTTGGTGTTCCTGAAAAAGC	0.483000													4	16					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72499185	72499185	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72499185G>A	ENST00000319622.6	-	8	1480	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	PKM_ENST00000335181.5_Missense_Mutation_p.R342W|PKM_ENST00000565154.1_Missense_Mutation_p.R342W|PKM_ENST00000389093.3_Missense_Mutation_p.R342W|PKM_ENST00000565184.1_Missense_Mutation_p.R342W|PKM_ENST00000568883.1_Missense_Mutation_p.R177W|PKM_ENST00000449901.2_Missense_Mutation_p.R327W|PKM_ENST00000568459.1_Missense_Mutation_p.R342W	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CCTTCAGCCCGAGTGGGGCGG	0.547000													17	28					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302202	7302202	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7302202G>A	ENST00000537408.1	+	13	2732	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E720K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	720					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						CCTGGATCCCGAGCGGGAAAG	0.572000													15	41					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95483391	95483391	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95483391A>G	ENST00000343958.4	-	18	4155	c.3932T>C	c.(3931-3933)aTt>aCt	p.I1311T	FGD6_ENST00000546711.1_Missense_Mutation_p.I1311T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1311					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCCTGATGGAATGCTATGTAA	0.403000													28	50					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7910941	7910941	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:7910941T>G	ENST00000377516.2	-	3	465	c.145A>C	c.(145-147)Aga>Cga	p.R49R	UTS2_ENST00000361696.5_Silent_p.R49R|UTS2_ENST00000054668.5_Silent_p.R64R			O95399	UTS2_HUMAN	urotensin 2	49					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGAAGCTCTTTCTAGCTCC	0.438000													26	53					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735728	55735728	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735728C>A	ENST00000312345.2	-	1	262	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CATGAGCATTCTTGGGATAAT	0.368000													27	57					1.66031e-10	2.0393e-10	1	1	0
CCDC151	115948	broad.mit.edu	37	19	11545832	11545832	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11545832T>C	ENST00000356392.4	-	1	93	c.6A>G	c.(4-6)acA>acG	p.T2T	CCDC151_ENST00000591179.1_Silent_p.T2T|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000586836.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	2										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						ACAGAGGAGATGTCATGATGG	0.642000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	73					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275214	29275214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29275214C>A	ENST00000377160.2	+	1	812	c.748C>A	c.(748-750)Ctt>Att	p.L250I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CACCTTCTTTCTTTCAGCTGC	0.488000													58	107					8.72158e-25	1.22634e-24	1	1	0
KLHL10	317719	broad.mit.edu	37	17	40001831	40001831	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40001831A>G	ENST00000293303.4	+	3	1291	c.1138A>G	c.(1138-1140)Agt>Ggt	p.S380G		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	380						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTGCTATGTCAGTGTGACAGT	0.453000													6	81					0	0	1	0	0
STARD3	0	broad.mit.edu	37	17	37814703	37814703	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37814703T>G	ENST00000336308.5	+	6	693	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V	STARD3_ENST00000580611.1_Missense_Mutation_p.F133V|STARD3_ENST00000544210.2_Silent_p.L154L|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.F141V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	159	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATCGTCTCTTTTGTCCTCGC	0.602000													21	34					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56598957	56598957	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56598957G>T	ENST00000457347.2	-	9	1155	c.1011C>A	c.(1009-1011)gaC>gaA	p.D337E	SEPT4_ENST00000583114.1_Missense_Mutation_p.D175E|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000579371.1_Missense_Mutation_p.D223E|SEPT4_ENST00000580844.1_Missense_Mutation_p.D223E|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.D314E|SEPT4_ENST00000393086.1_Missense_Mutation_p.D303E|SEPT4_ENST00000317256.6_Missense_Mutation_p.D303E|SEPT4_ENST00000317268.3_Missense_Mutation_p.D322E	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	322					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)					CAGAGTCACAGTCTGGGAATT	0.493000													21	48					5.26018e-13	6.70247e-13	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139153578	139153578	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139153578G>T	ENST00000395297.1	-	17	3823	c.3653C>A	c.(3652-3654)tCt>tAt	p.S1218Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1218										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)			GTTGCCAAGAGAATGGCCAAT	0.552000										HNSCC(54;0.14)			36	63					6.84511e-11	8.46308e-11	1	1	0
ZNF841	284371	broad.mit.edu	37	19	52569565	52569565	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52569565A>C	ENST00000389534.4	-	7	2029	c.1570T>G	c.(1570-1572)Tgg>Ggg	p.W524G	ZNF841_ENST00000426391.2_Missense_Mutation_p.W408G|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.W524G	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AATGAGCCCCAATTAAAGGCT	0.403000													11	23					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480675	25480675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25480675C>A	ENST00000381884.4	-	7	1686	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.E501*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	501					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)		GTTACATTTTCTTTATTATTA	0.423000													27	54					7.41945e-09	8.8016e-09	1	1	0
LRP2	4036	broad.mit.edu	37	2	170063458	170063458	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170063458T>G	ENST00000263816.3	-	39	7057	c.6772A>C	c.(6772-6774)Att>Ctt	p.I2258L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2258					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)	ATCCTTGCAATTATATCTAAA	0.433000													45	86					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133485143	133485143	+	Missense_Mutation	SNP	T	T	C	rs142116896		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133485143T>C	ENST00000402696.3	+	12	1837	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	TF_ENST00000264998.3_Missense_Mutation_p.V324A	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	451	Transferrin-like 2.				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)	ATAGCAGTGGTGAAGAAATCA	0.493000													72	100					0	0	1	0	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159818743	159818743	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159818743G>A	ENST00000497452.1	-	0	517																											CGAAGTCACCGAACTCTCCAT	0.493000													50	90					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120816463	120816463	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120816463C>T	ENST00000369144.3	-	13	2194	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Silent_p.K655K	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	689	Glu-rich.|Interaction with EIF3B.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTCTTGATTCTTTAGGCGTT	0.348000													11	22					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65016055	65016055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:65016055G>T	ENST00000394156.3	-	8	1602	c.1149C>A	c.(1147-1149)ttC>ttA	p.F383L	CDH11_ENST00000566827.1_Missense_Mutation_p.F257L|CDH11_ENST00000268603.4_Missense_Mutation_p.F383L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	383	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGGGCCAAGAACATAGGGG	0.532000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			41	53					6.2361e-21	8.5756e-21	1	1	0
TEX14	56155	broad.mit.edu	37	17	56682459	56682459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56682459G>A	ENST00000389934.3	-	11	1333	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	TEX14_ENST00000240361.8_Nonsense_Mutation_p.R412*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.R406*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	412	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGCACTCGAGTCAGGTCC	0.478000													21	38					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38913287	38913287	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38913287C>T	ENST00000359357.3	+	78	11655	c.11401C>T	c.(11401-11403)Cgc>Tgc	p.R3801C	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4018C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3765C					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						CAAACCCTATCGCTGGATCCT	0.483000													60	23					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277008	135277008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135277008G>A	ENST00000334270.2	-	2	1240	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	401			R -> Q (in dbSNP:rs3739916).		negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCAGACACTCGTGCCCTTTTG	0.453000													29	72					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111493955	111493955	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111493955T>C	ENST00000369763.4	-	2	1941	c.1551A>G	c.(1549-1551)acA>acG	p.T517T	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGTAACAGTTGTTGCATCAA	0.388000													29	79					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390754	197390754	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197390754T>C	ENST00000367400.3	+	6	1931	c.1796T>C	c.(1795-1797)cTt>cCt	p.L599P	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.L487P|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.L530P|CRB1_ENST00000538660.1_Missense_Mutation_p.L599P|CRB1_ENST00000544212.1_Missense_Mutation_p.L80P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	599	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTACTCCACTTGAAAGTGAT	0.438000													27	72					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57015659	57015659	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57015659A>C	ENST00000370706.4	+	11	2995	c.2752_splice	c.e11+1	p.Q917_splice	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.Q917_splice|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGCTTTCAAGGTACGGTTA	0.353000													5	83					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532534	92532534	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92532534G>T	ENST00000298047.6	+	9	6372	c.6355G>T	c.(6355-6357)Gtg>Ttg	p.V2119L	FAT3_ENST00000525166.1_Missense_Mutation_p.V1969L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2119L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2119	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGAGAAGTGACCTATGT	0.443000										TCGA Ovarian(4;0.039)			6	14					0.00116845	0.00122532	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111494605	111494606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111494605_111494606insA	ENST00000369763.4	-	2	1290_1291	c.900_901insT	c.(898-903)ttcgccfs	p.A301fs	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AGAGATGGCGTAAAAGGCTGTA	0.337													15	55	---	---	---	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2892)aaafs	p.K964fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AAAATGGATAGAAAAAAAAAAC	0.356													20	51	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217270	143217271	+	RNA	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:143217270_143217271insT	ENST00000438000.1	+	0	59																											TAAAGCAAAAAAAAAACTAATA	0.287													6	10	---	---	---	---					
ATAD2B	54454	broad.mit.edu	37	2	23980888	23980889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980888_23980889insT	ENST00000238789.5	-	25	3820_3821	c.3477_3478insA	c.(3475-3480)aaatgafs	p.*1160fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1160							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCATCTTTTTTTAAAT	0.386													11	37	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168101562	168101563	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168101562_168101563insA	ENST00000409195.1	+	9	3749_3750	c.3660_3661insA	c.(3658-3663)ttaaaafs	p.LK1220fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.LK998fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.LK1220fs|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1045					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						AGGAAGTTTTGAAAAAGATCAA	0.312													7	30	---	---	---	---					
OLA1	29789	broad.mit.edu	37	2	174987962	174987963	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:174987962_174987963insT	ENST00000284719.3	-	7	919_920	c.673_674insA	c.(673-675)ggtfs	p.G225fs	OLA1_ENST00000344357.5_Frame_Shift_Ins_p.G67fs|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Frame_Shift_Ins_p.G225fs|OLA1_ENST00000409546.1_Frame_Shift_Ins_p.G245fs	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	225					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CAAGTAGACCATTGGTTTTGAA	0.317													8	10	---	---	---	---					
HSPD1	3329	broad.mit.edu	37	2	198359410	198359411	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198359410_198359411insT	ENST00000388968.3	-	5	843_844	c.576_577insA	c.(574-579)aattggfs	p.NW192fs	HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.NW192fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	192					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTTCTTCCAACTTTTTTCATTG	0.327													15	38	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19889187	19889187	+	RNA	DEL	A	A	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:19889187delA	ENST00000511431.1	+	0	408																											aTAtggtgccaaaacccagga	0.557													2	4	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1878497	1878499	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1878497_1878499delGGC	ENST00000505790.1	-	6	1600_1602	c.1144_1146delGCC	c.(1144-1146)del	p.A382del	IRX4_ENST00000231357.2_In_Frame_Del_p.A382del|IRX4_ENST00000513692.1_In_Frame_Del_p.A382del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	382	Poly-Ala.				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)		TCAGGGAggtggcggcggcggcg	0.739													2	4	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984088	123984089	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:123984088_123984089insT	ENST00000306315.5	-	4	2423_2424	c.1988_1989insA	c.(1987-1989)aaafs	p.K663fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.K236fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	663						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAGGCCCTTCTTTTTGCCAGA	0.510													33	83	---	---	---	---					
KIF4B	285643	broad.mit.edu	37	5	154396021	154396021	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154396021delA	ENST00000435029.4	+	1	2762	c.2602delA	c.(2602-2604)aafs	p.K868fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	868	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTGCCCTGAAATATTTGAT	0.473													25	49	---	---	---	---					
TRBV5-3	0	broad.mit.edu	37	7	142242313	142242314	+	RNA	INS	-	-	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142242313_142242314insC	ENST00000390362.1	-	0	309_310																											CAGGGCCGAGTCCCCCAGCTCC	0.525													17	27	---	---	---	---					
EPHA1-AS1	0	broad.mit.edu	37	7	143208738	143208738	+	RNA	DEL	C	C	-	rs34333193		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143208738delC	ENST00000429289.1	+	0	263					NR_033897.1																						CCTGCGGTGGCCCCGGCGTGC	0.667													5	6	---	---	---	---					
MYOZ1	58529	broad.mit.edu	37	10	75393727	75393728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75393727_75393728insT	ENST00000359322.4	-	5	962_963	c.598_599insA	c.(598-600)ggafs	p.G200fs		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	200					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCCAAGTTCCATTTTTTGCTGG	0.515													25	69	---	---	---	---					
CTSF	8722	broad.mit.edu	37	11	66335859	66335859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66335859delC	ENST00000310325.5	-	1	208	c.99delG	c.(97-99)ggfs	p.G33fs		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	33					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGACGGCGGCCCCCAGGCCT	0.781													2	4	---	---	---	---					
RP11-273B20.3	0	broad.mit.edu	37	12	7338794	7338794	+	RNA	DEL	G	G	-	rs34548221		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7338794delG	ENST00000545794.1	-	0	279				RP11-273B20.3_ENST00000543061.1_RNA																							cctgttgagaggggggactga	0.502													3	4	---	---	---	---					
TSPAN8	7103	broad.mit.edu	37	12	71523156	71523157	+	Frame_Shift_Ins	INS	-	-	T	rs139952436	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71523156_71523157insT	ENST00000393330.2	-	11	1166_1167	c.614_615insA	c.(613-615)attfs	p.I205fs	TSPAN8_ENST00000552128.1_Frame_Shift_Ins_p.I122fs|TSPAN8_ENST00000546561.1_Frame_Shift_Ins_p.I205fs|TSPAN8_ENST00000247829.3_Frame_Shift_Ins_p.I205fs			P19075	TSN8_HUMAN	tetraspanin 8	205					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCAA	0.267													8	22	---	---	---	---					
SPERT	220082	broad.mit.edu	37	13	46276932	46276933	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46276932_46276933insA	ENST00000310521.1	+	2	178_179	c.98_99insA	c.(97-99)aaafs	p.K33fs		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	33						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)		AATTATACAAGAAAAAGAGATA	0.426													9	22	---	---	---	---					
MYO16	23026	broad.mit.edu	37	13	109707398	109707399	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:109707398_109707399insA	ENST00000356711.2	+	26	3113_3114	c.2987_2988insA	c.(2986-2988)taafs	p.*996fs	MYO16_ENST00000357550.2_Frame_Shift_Ins_p.*996fs|MYO16_ENST00000457511.2_Frame_Shift_Ins_p.*508fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	996	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTACAGTTATTAAAAAAGAAAG	0.396													8	19	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													7	13	---	---	---	---					
RP11-798K3.2	0	broad.mit.edu	37	15	67293441	67293442	+	RNA	INS	-	-	G	rs58545302	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:67293441_67293442insG	ENST00000558071.1	-	0	114																											GCGGCAACGGCGGGGGGACATA	0.584													4	4	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
ITGAL	0	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													10	226	---	---	---	---					
MAP2K4	6416	broad.mit.edu	37	17	11998922	11998923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11998922_11998923insA	ENST00000415385.3	+	5	510_511	c.457_458insA	c.(457-459)aaafs	p.K153fs	MAP2K4_ENST00000353533.5_Frame_Shift_Ins_p.K142fs			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	142	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.Q142L(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGAAAAAGAACAAAAACAACTT	0.337			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								19	52	---	---	---	---					
GINS1	9837	broad.mit.edu	37	20	25405867	25405868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25405867_25405868insA	ENST00000262460.4	+	5	445_446	c.351_352insA	c.(349-354)taaaagfs	p.*K117fs	GINS1_ENST00000429262.2_Frame_Shift_Ins_p.K158fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	117					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTAATAATTATAAAAGATCTCT	0.347													17	26	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56093849	56093850	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56093849_56093850insT	ENST00000426658.2	-	4	1684_1685	c.1023_1024insA	c.(1021-1026)ccttaafs	p.*342fs	CTCFL_ENST00000539382.1_Frame_Shift_Ins_p.*137fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000429804.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000433949.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000502686.2_Frame_Shift_Ins_p.*80fs|CTCFL_ENST00000422109.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000423479.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000481655.1_5'UTR			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	342					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GAACATTTAAAGGGTTTCTCAT	0.470													39	98	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36090024	36090025	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:36090024_36090025insA	ENST00000378660.1	+	3	314_315	c.126_127insA	c.(124-129)ataaaafs	p.IK42fs	CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IK42fs					calponin homology domain containing 2																		CTGCTTCAATTAAAAAGACATA	0.366													18	29	---	---	---	---					
NXF4	0	broad.mit.edu	37	X	101820639	101820640	+	RNA	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101820639_101820640insT	ENST00000360035.2	+	0	1258					NR_002216.1															endometrium(2)|lung(8)	10						ACTTCATTCTATTTTTTGTTAT	0.480													18	30	---	---	---	---